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Salmo Raskin

Dados pessoais

  • HS Health Sciences
  • LS Life Sciences
  • MU Multidisciplinary
  • PS Physical Sciences
  • SH Social Sciences & Humanities
Nome Links Grande Área Área
Acary Souza Bulle OLIVEIRA Ciências da Saúde Medicina
Ana Cristina Garcia DIAS Ciências Humanas Psicologia
Ana Tereza Bittencourt GUIMARÃES Ciências Exatas e da Terra Probabilidade e Estatística
Bianca Simone ZEIGELBOIM Ciências da Saúde Fonoaudiologia
Carlos Antonio RIEDI Ciências da Saúde Medicina
Chong Ae KIM Ciências da Saúde Medicina
Damacio Ramón Kaimen MACIEL Ciências da Saúde Medicina
Débora Romeo BERTOLA Ciências da Saúde Medicina
Decio BRUNONI Ciências Biológicas Genética
Eliasz ENGELHARDT Ciências da Saúde Medicina
Francisco Baptista Assumpção JUNIOR Ciências da Saúde Medicina
Francisco Eduardo Costa CARDOSO Ciências da Saúde Medicina
Honorio Sampaio MENEZES Ciências da Saúde Medicina
Iscia Teresinha Lopes CENDES Ciências Biológicas Genética
Juan Clinton Llerena JUNIOR Ciências da Saúde Medicina
Kette Dualibi Ramos VALENTE Ciências Biológicas Fisiologia
Lineu Cesar WERNECK Ciências da Saúde Medicina
Mara Lúcia CORDEIRO Ciências da Saúde Medicina
Naiana Dapieve PATIAS Ciências Humanas Psicologia
Roberto GIUGLIANI CpE Ciências Biológicas Genética
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
Figura 1. ASJC mais frequente por ano.
Tabela 1. Frequência de ASJC (código, nome e grupo) por ano.
Código Nome Grupo Ano Frequência
2728 Neurology (clinical) Health Sciences 2023 5
2716 Genetics (clinical) Health Sciences 2023 3
2735 Pediatrics, Perinatology and Child Health Health Sciences 2023 2
1311 Genetics Life Sciences 2023 1
2739 Public Health, Environmental and Occupational Health Health Sciences 2023 1
1300 General Biochemistry, Genetics and Molecular Biology Life Sciences 2022 1
2728 Neurology (clinical) Health Sciences 2022 1
2716 Genetics (clinical) Health Sciences 2021 2
2728 Neurology (clinical) Health Sciences 2021 2
2728 Neurology (clinical) Health Sciences 2020 8
2716 Genetics (clinical) Health Sciences 2020 2
2728 Neurology (clinical) Health Sciences 2019 3
2716 Genetics (clinical) Health Sciences 2019 1
2728 Neurology (clinical) Health Sciences 2018 4
2700 General Medicine Health Sciences 2018 1
2800 General Neuroscience Life Sciences 2018 1
2801 Neuroscience (miscellaneous) Life Sciences 2018 1
2716 Genetics (clinical) Health Sciences 2017 3
2728 Neurology (clinical) Health Sciences 2017 3
3200 General Psychology Social Sciences & Humanities 2017 1
1311 Genetics Life Sciences 2017 1
2738 Psychiatry and Mental Health Health Sciences 2017 1
2748 Urology Health Sciences 2017 1
1311 Genetics Life Sciences 2016 1
2716 Genetics (clinical) Health Sciences 2016 1
2728 Neurology (clinical) Health Sciences 2016 1
2728 Neurology (clinical) Health Sciences 2015 4
2716 Genetics (clinical) Health Sciences 2015 2
2808 Neurology Life Sciences 2015 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 2015 1
2741 Radiology, Nuclear Medicine and Imaging Health Sciences 2015 1
2728 Neurology (clinical) Health Sciences 2014 4
1311 Genetics Life Sciences 2014 2
2716 Genetics (clinical) Health Sciences 2014 1
2701 Medicine (miscellaneous) Health Sciences 2014 1
2716 Genetics (clinical) Health Sciences 2013 8
2728 Neurology (clinical) Health Sciences 2013 5
1311 Genetics Life Sciences 2013 1
2729 Obstetrics and Gynecology Health Sciences 2013 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 2013 1
2716 Genetics (clinical) Health Sciences 2012 2
2728 Neurology (clinical) Health Sciences 2012 2
2808 Neurology Life Sciences 2012 1
2733 Otorhinolaryngology Health Sciences 2012 1
3201 Psychology (miscellaneous) Social Sciences & Humanities 2012 1
2716 Genetics (clinical) Health Sciences 2011 4
2808 Neurology Life Sciences 2011 2
2705 Cardiology and Cardiovascular Medicine Health Sciences 2011 1
2728 Neurology (clinical) Health Sciences 2011 1
1402 Accounting Social Sciences & Humanities 2010 1
2708 Dermatology Health Sciences 2010 1
2712 Endocrinology, Diabetes and Metabolism Health Sciences 2010 1
2716 Genetics (clinical) Health Sciences 2010 1
2808 Neurology Life Sciences 2010 1
2728 Neurology (clinical) Health Sciences 2010 1
2728 Neurology (clinical) Health Sciences 2009 3
2716 Genetics (clinical) Health Sciences 2009 2
2728 Neurology (clinical) Health Sciences 2008 3
2808 Neurology Life Sciences 2008 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 2008 1
2728 Neurology (clinical) Health Sciences 2007 4
2716 Genetics (clinical) Health Sciences 2007 2
1311 Genetics Life Sciences 2007 1
2716 Genetics (clinical) Health Sciences 2006 3
1311 Genetics Life Sciences 2006 1
2717 Geriatrics and Gerontology Health Sciences 2006 1
2728 Neurology (clinical) Health Sciences 2006 1
2728 Neurology (clinical) Health Sciences 2005 4
2716 Genetics (clinical) Health Sciences 2005 2
1402 Accounting Social Sciences & Humanities 2005 1
1311 Genetics Life Sciences 2005 1
2728 Neurology (clinical) Health Sciences 2004 3
2716 Genetics (clinical) Health Sciences 2004 2
2708 Dermatology Health Sciences 2004 1
1311 Genetics Life Sciences 2004 1
2808 Neurology Life Sciences 2004 1
2801 Neuroscience (miscellaneous) Life Sciences 2004 1
2406 Virology Life Sciences 2004 1
2716 Genetics (clinical) Health Sciences 2003 5
2728 Neurology (clinical) Health Sciences 2003 2
1308 Clinical Biochemistry Life Sciences 2003 1
2712 Endocrinology, Diabetes and Metabolism Health Sciences 2003 1
1311 Genetics Life Sciences 2003 1
2808 Neurology Life Sciences 2003 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 2003 1
2728 Neurology (clinical) Health Sciences 2002 2
2712 Endocrinology, Diabetes and Metabolism Health Sciences 2002 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 2002 1
2716 Genetics (clinical) Health Sciences 2001 4
2728 Neurology (clinical) Health Sciences 2001 2
2700 General Medicine Health Sciences 2001 1
2406 Virology Life Sciences 2001 1
2716 Genetics (clinical) Health Sciences 2000 3
1311 Genetics Life Sciences 1999 2
2716 Genetics (clinical) Health Sciences 1999 2
2701 Medicine (miscellaneous) Health Sciences 1999 2
2728 Neurology (clinical) Health Sciences 1999 2
1312 Molecular Biology Life Sciences 1999 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 1999 1
2716 Genetics (clinical) Health Sciences 1998 3
2728 Neurology (clinical) Health Sciences 1998 2
2712 Endocrinology, Diabetes and Metabolism Health Sciences 1998 1
2701 Medicine (miscellaneous) Health Sciences 1998 1
2726 Microbiology (medical) Health Sciences 1998 1
2732 Orthopedics and Sports Medicine Health Sciences 1998 1
2740 Pulmonary and Respiratory Medicine Health Sciences 1998 1
2716 Genetics (clinical) Health Sciences 1997 4
2712 Endocrinology, Diabetes and Metabolism Health Sciences 1997 1
2700 General Medicine Health Sciences 1997 1
1311 Genetics Life Sciences 1997 1
2729 Obstetrics and Gynecology Health Sciences 1997 1
2716 Genetics (clinical) Health Sciences 1996 4
2712 Endocrinology, Diabetes and Metabolism Health Sciences 1996 1
2700 General Medicine Health Sciences 1996 1
2800 General Neuroscience Life Sciences 1996 1
1311 Genetics Life Sciences 1996 1
2726 Microbiology (medical) Health Sciences 1996 1
2716 Genetics (clinical) Health Sciences 1995 3
2713 Epidemiology Health Sciences 1995 1
2700 General Medicine Health Sciences 1995 1
2720 Hematology Health Sciences 1995 1
1211 Philosophy Social Sciences & Humanities 1995 1
2716 Genetics (clinical) Health Sciences 1994 1
2716 Genetics (clinical) Health Sciences 1993 4
1311 Genetics Life Sciences 1993 3
2716 Genetics (clinical) Health Sciences 1992 9
1311 Genetics Life Sciences 1992 2
1301 Biochemistry, Genetics and Molecular Biology (miscellaneous) Life Sciences 1992 1
2712 Endocrinology, Diabetes and Metabolism Health Sciences 1992 1
1300 General Biochemistry, Genetics and Molecular Biology Life Sciences 1992 1
2735 Pediatrics, Perinatology and Child Health Health Sciences 1992 1
2739 Public Health, Environmental and Occupational Health Health Sciences 1992 1
2716 Genetics (clinical) Health Sciences 1991 16
2735 Pediatrics, Perinatology and Child Health Health Sciences 1991 3
2700 General Medicine Health Sciences 1991 2
2713 Epidemiology Health Sciences 1991 1
2705 Cardiology and Cardiovascular Medicine Health Sciences 1988 1
  1. Health Sciences Genetics (clinical)
    Jessica Braz DUARTE; Isabelle Caroline FASOLO; Normandia MOREIRA; Naiara Pegoraro BOZZA; Gabriela Esmanhoto RODRIGUES et al. 2021. Case report of autistic spectrum disorder with molecular analysis by a-cgh. In: Xxxii congresso brasileiro de genética médica. Brasil.
  2. Health Sciences Genetics (clinical)
    Alana WEINGARTNER; Gabriela Esmanhoto RODRIGUES; Naiara Bozza PEGORARO; Rie Tiba MAGLIONI; Aline Sauzem MILANO et al. 2021. Autism and duplication of 17q12q21q.2 by array-cgh: a case report. In: Xxxii congresso brasileiro de genética médica. Brasil.
  3. Health Sciences Neurology (clinical)
    Helio TEIVE; Lineu C WERNECK; Et AL. 2005. Doença de huntinghton-like 2: apresentação de 1 caso. In: V encontro da sociedade brasileira de investigação neurológica - sbin. Brasil.
  4. Health Sciences Neurology (clinical)
    Helio Ghizoni TEIVE; Et AL. 2005. Paraparesia espástica hereditária (locus spg6) numa família brasileira: correlação genótipo-fenótipo. In: V encontro da sociedade brasileira de investigação neurológica - sbin. Brasil.
  5. Health Sciences Neurology (clinical)
    Helio Ghizoni TEIVE; Walter ARRUDA; Lineu C WERNECK; Et AL. 2005. Early-onset and reduced penetrance in a brazilian family with spinocerebellar ataxia type x: implications for pathogenesis; molecular diagnosis and genetic counseling for sca type 10 families. In: 58th annual meeting of the american academy of neurology. Brasil.
  6. Health Sciences Neurology (clinical)
    Helio TEIVE. 2004. Genotype-phenotype correlation in 100 families with spinocerebelar ataxias. In: 56th american academy of neurology - annual meeting. Estados Unidos.
  7. Health Sciences Genetics (clinical)
    Helio Ghizoni TEIVE; Alonso I; Jardin I; Et AL. 2004. Spinocerebelar ataxia type i 10 attct pentanucleotide repeat expansions in multiple brazilian families. In: American society of human genetics congress. Estados Unidos.
  8. Health Sciences Genetics (clinical)
    Aghata MARTARELLO; Lilian Pereira FERRARI. 2003. Sindrome de alport: estudo de três famílias apresentando diferentes padrões de herança. In: Congresso brasileiro de genética clínica. Brasil.
  9. Health Sciences Pediatrics, Perinatology and Child Health
    T BRANCO; V R ALMEIDA; A DALLASTA. 2002. Sindrome de smith-lemli-opitz; um erro inato do metabolismo do colesterol levando à malformação: relato de um caso. In: Vii encontro nacional da sociedade brasileira de neurologia infantil. Brasil.
  10. Health Sciences Genetics (clinical)
    D R Kaimen MACIEL; M C R MEDEIROS; L S TAZO; V M CLIMACO; R F GAMA et al. 2001. A study of one family with kennedy disease. In: A study of one family with kennedy disease. Estados Unidos.
  11. Life Sciences Virology
    Vahia Loureiro A M; C P FROTA; M G MOREIRA; O FERNANDES; M BRONSTEIN. 2001. Possibilidade de soronegativação de teste anti-hiv: relato de caso. In: Possibilidade de soronegativação de teste anti-hiv: relato de caso. Brasil.
  12. Health Sciences General Medicine
    2001. Melhor relato de caso - síndrome de louis bar - diagnóstico por teste de dna. In: Xv conclave científico de acadêmicos de medicina. Brasil.
  13. Health Sciences Genetics (clinical)
    F R FAUCZ; L PEREIRA; M J DUCK; I GOLDENSTEIN; X ESTIVILL et al. 2000. Análise molecular do gene da fibrose cística (cftr) no estado de santa catarina. In: Xii congresso brasileiro de genética clínica. Brasil.
  14. Health Sciences Medicine (miscellaneous)
    1999. Sindrome de goldenhar: relato de caso e revisão de literatura. In: Sindrome de goldenhar: relato de caso e revisão de literatura. Brasil.
  15. Life Sciences Genetics
    F R FAUCZ; L PEREIRA; X ESTIVILL; L CULPI. 1999. Fibrose cística em negróides brasileiros: identificação de seis novas mutações e caracterização de mais de 80% dos alelos. In: 45 congresso nacional de genética. Brasil.
  16. Health Sciences Medicine (miscellaneous)
    1999. A evolução das perícias médicas na investigação de paternidade: dos redemoinhos do cabelo ao dna. In: Congresso brasileiro de direito da família. Brasil.
  17. Health Sciences Medicine (miscellaneous)
    Damacio Ramón Kaimen MACIEL. 1998. Doença de charcot-marie-tooth com sinais piramidais - descrição de uma família. In: Xli congresso médico de londrina. Brasil.
  18. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C; Parker R A et al. 1998. Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. In: Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. Estados Unidos.
  19. Health Sciences Orthopedics and Sports Medicine
    V H ZETOLA; R H SCOLA; D M PREVEDELLO; Y Correa NETO; L C WERNECK. 1998. Rigid spine syndrome. case report. In: Rigid spine syndrome. case report. Estados Unidos.
  20. Health Sciences Genetics (clinical)
    Bertollo E M G; Conte A C F; Salomão J B; Pereira L. 1997. Análise molecular para 32 mutações em pacientes com fibrose cística. In: Ix congresso brasileiro de genética clínica; xii encontro de genética do nordeste. Brasil.
  21. Health Sciences Endocrinology, Diabetes and Metabolism
    Martineli A M R; De Lacerda L; Braga M; Graf H. 1997. Description of a brazilian patient bearing the r271w; pit-1 gene mutation. In: Vii congreso sociedad latinoamericana de tiroides. Chile.
  22. Health Sciences General Medicine
    Ribeiro E M; Fontenele F J; Arruda A P; Amorin L H. 1997. Multiple hamartoma syndrome. In: 9th international congress of human genetics. Brasil.
  23. Health Sciences Genetics (clinical)
    Ribeiro E M; Fontenele F J; Arruda A P; Amorim L H. 1996. Multiple hamartona syndrome. In: 9th international congress of human genetics. Estados Unidos.
  24. Health Sciences Genetics (clinical)
    Gasparini P; Fortina P; Estivil X; Totaro A; Stanziale P et al. 1996. International consortium for deafness study (brasil-italy-spain-usa). the contribution of dend1 lesus to neurosensory recessive deafness in the italian population. In: European society of human genetics. Estados Unidos.
  25. Health Sciences Microbiology (medical)
    Sotomaior V; Braga F; São Pedro S; Koneski J; Coelho Neto M et al. 1996. Diagnóstico rápido de infecção herpética pela técnica de pcr. In: Xxx congresso brasileiro de patologia clínica. Brasil.
  26. Health Sciences General Medicine
    Sotomaior V; Janzen M; Singer L; Ribeiro M; Levi J et al. 1996. Genotipagem para hepatite c como prognóstico de resposta ao interferon. In: Xxx congresso brasileiro de patologia clínica. Brasil.
  27. Health Sciences Genetics (clinical)
    Sotomaior V; Janzen M; Picchi C F A; Teive H; Cardoso F et al. 1996. Doença de huntington - teste de dna no brasil. In: Viii reunião anual da sbgc. Brasil.
  28. Health Sciences Endocrinology, Diabetes and Metabolism
    Carvalho G; Maciel B; Oliveira M; Miyashiro K; Di Ninno F Russo E et al. 1996. Ausência de mutações oncogênicas nas regiões hot spot do receptor de tsh em nódulos autônomos hiperfuncionantes estudados em são paulo. In: Ausência de mutações oncogênicas nas regiões hot spot do receptor de tsh em nódulos autônomos hiperfuncionantes estudados em são paulo. Brasil.
  29. Health Sciences Hematology
    Sotomaior V; Schulman L; Goldenstein I; Piazza A; Furman D et al. 1995. Uso da técnica de pcr no diagnóstico de talassemia. In: Xv congresso nacional do colégio brasileiro de hematologia. Brasil.
  30. Health Sciences Genetics (clinical)
    Maróstica P; Santos J; Souza W; Silva F. 1995. Estimativa da incidência de fibrose cística em porto alegre - análise a partir da frequência da mutação df508 em recém-nascidos normais. In: Estimativa da incidência de fibrose cística em porto alegre - análise a partir da frequência da mutação df508 em recém-nascidos normais. Brasil.
  31. Health Sciences Epidemiology
    1995. Epidemologia das mutações fibrose cistica. In: Iv congresso brasileiro de pneumologia pediátrica. Brasil.
  32. Health Sciences Genetics (clinical)
    Phillips J A III; Krisgnamani M R S; Vnencak Jones C; Parker R A; Dawson E et al. 1994. Regional distribution of cystic fibrosis linked dna haplotypes in brazil; a multicenter study. In: Regional distribution of cystic fibrosis linked dna haplotypes in brazil; a multicenter study. Estados Unidos.
  33. Health Sciences Genetics (clinical)
    Chakraborty R; Srinivasan M. 1993. Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. In: Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. Estados Unidos.
  34. Life Sciences Genetics
    Taylor B; Phillips J A III. 1993. Use of a pcr-rflp for mapping the pit-1 gene in recombinant inbred strains. In: Use of a pcr-rflp for mapping the pit-1 gene in recombinant inbred strains. Estados Unidos.
  35. Health Sciences Genetics (clinical)
    Phillips J A III; Summar M L; Sherrill C G; Garr J L; Moreno A. 1992. Chromosomal assignment of the human pituitary-specific transcription factor gene and its analysis in familial panhypopiytuitary dwarfism. In: 74th annual meeting of the endocrine society. Estados Unidos.
  36. Health Sciences Genetics (clinical)
    Phillips J A III; Summar M L; Sherrill C G; Garr J L; Moreno A et al. 1992. Chromosomal assignment of the human pituitary-specific transcripiton factor (pit-1) gene and its analysis in familial panhypopituitary dwarfism. In: Chromosomal assignment of the human pituitary-specific transcripiton factor (pit-1) gene and its analysis in familial panhypopituitary. Estados Unidos.
  37. Life Sciences Genetics
    Jurado L P; Argente J; Garcia F; Phillips J A III. 1992. Genetic analysis of familial isolated growth hormone (gh) deficiency type ii. In: Genetic analysis of familial isolated growth hormone (gh) deficiency type ii. Estados Unidos.
  38. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Dawson E; Rozov T et al. 1992. Dna analysis estimated a ten folf much higler-than-predicted incidense of cf in brazil. In: Dna analysis estimated a ten folf much higler-than-predicted incidense of cf in brazil. Estados Unidos.
  39. Health Sciences Public Health, Environmental and Occupational Health
    Silva A; Marostiça P. 1992. The social and medical conditions of cf patients in a developing country. In: The social and medical conditions of cf patients in a developing country. Estados Unidos.
  40. Health Sciences Genetics (clinical)
    Reis F J C; Phillips J A III. 1992. Cystic fibrosis carrier frequency by newborn screening and by df508 analysis of the general caucasian population of minas gerais; brazil. In: Cystic fibrosis carrier frequency by newborn screening and by df508 analysis of the general caucasian population of minas gerais; brazil. Estados Unidos.
  41. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Dawson E; Rozov T; Cardieri J et al. 1992. Molecular basis of cystic fibrosis in brazil. In: Proceedings of the eleventh international cystic fibrosis congress. Irlanda.
  42. Health Sciences Genetics (clinical)
    Phillips J A III; Parker R; Kaplan G; Mcclure M; Dawson E et al. 1992. Dna analysis of cystic in brazil. In: Congresso mundial de pediatria. Brasil.
  43. Health Sciences Pediatrics, Perinatology and Child Health
    Phillips J A III; Parker R; Kaplan G; Mcclure M; Dawson E et al. 1992. Cystic fibrosis diagnosis by dna analysis in brazilian meconium ileus patients. In: Congresso mundial de pediatria. Brasil.
  44. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Dawson E; Rozov T et al. 1992. Dna data suggests the incidense of cf in brazil may be ten fold more than observed. In: Dna data suggests the incidense of cf in brazil may be ten fold more than observed. Estados Unidos.
  45. Health Sciences Endocrinology, Diabetes and Metabolism
    Phillips J A III; Cogan J D; Parker R. 1992. Pedigree analysis of familial growth hormone (gh) deficiency. In: Pedigree analysis of familial growth hormone (gh) deficiency. Estados Unidos.
  46. Health Sciences Genetics (clinical)
    1991. Different frequencies of cystic fibrosis in brazil. In: Different frequencies of cystic fibrosis in brazil. Brasil.
  47. Health Sciences Genetics (clinical)
    Phillips J A III; Vnencak Jones C L; Rozov T; Rosario N; Silveira T et al. 1991. Genetic analysis of brazilian cystic fibrosis genes. In: Genetic analysis of brazilian cystic fibrosis genes. Brasil.
  48. Health Sciences Genetics (clinical)
    Phillips J A III; Krishnamani M R S; Rozov T; Rosario N; Giugliani R et al. 1991. Different frequencies of f508 cystic fibrosis mutation detected in brazilian states by patient screening. In: Different frequencies of f508 cystic fibrosis mutation detected in brazilian states by patient screening. Brasil.
  49. Health Sciences Genetics (clinical)
    Phillips J A III; Vnencak Jones C; Parker R A; Rozov T; Cardieri J M et al. 1991. Molecular heterogeneity and geographic differences in brazilian cystic fibrosis. In: Molecular heterogeneity and geographic differences in brazilian cystic fibrosis. Estados Unidos.
  50. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C. 1991. Cystic fibrosis (cf) genotyping by direct pcr of guthrie blood spots. In: Cystic fibrosis (cf) genotyping by direct pcr of guthrie blood spots. Estados Unidos.
  51. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C; Rozov T et al. 1991. The composition of brazilian cystic fibrosis mutations. In: The composition of brazilian cystic fibrosis mutations. Estados Unidos.
  52. Health Sciences Genetics (clinical)
    Phillips J A III; Dawson E; Kaplan G; Mcclure M. 1991. Use of internal markers to improve the accurary of cystic fibrosis (cf) genotyp analyses. In: Use of internal markers to improve the accurary of cystic fibrosis (cf) genotyp analyses. Estados Unidos.
  53. Health Sciences Genetics (clinical)
    Phillips J A III; Vnencak Jones C; Parker R A; Rozov T; Cardieri J M et al. 1991. Molecular heterogeneity and geografic differences in brazilian cystic fibrosis (cf) alleles. In: Molecular heterogeneity and geografic differences in brazilian cystic fibrosis (cf) alleles. Estados Unidos.
  54. Health Sciences Pediatrics, Perinatology and Child Health
    Menezes S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Mortalidade infantil em hospital universitário - estudo de 127 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  55. Health Sciences Pediatrics, Perinatology and Child Health
    Menezes H S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Perfil da neomortalidade em hospital universitário - estudo de 308 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  56. Health Sciences Pediatrics, Perinatology and Child Health
    Menezes H S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Natimortalidade em hospital universitário - estudo de 472 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  57. Health Sciences Epidemiology
    Rozov T; Carldieri J; Silva F; Fischer E; Marostiça P et al. 1991. Fibrose cística na brasil - análise epidemiológica. In: Xxvii congresso brasileiro de pediatria. Brasil.
  58. Health Sciences Genetics (clinical)
    Rozov T; Caldieri J; Abreu F; Fischer E; Marostiça P et al. 1991. Fibrose cística no brasil - analise genética. In: Xxvii congresso brasileiro de pediatria. Brasil.
  59. Health Sciences Genetics (clinical)
    Rozov T; Caldieri J; Abreu F; Fischer R; Silveira T et al. 1991. Estudo piloto da incidência de fibrose cística e da frequência de portadores no brasil - baseado em screening neonatal da mutação df508. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  60. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M. 1991. Análise genética molecular do gene da fibrose cística por amplificação direta de uma gota de sangue em papel filtro. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  61. Health Sciences Genetics (clinical)
    Phillips J A III; Dawson E; Kaplan G; Mcclure M. 1991. Uso de marcadores internos para comprovar a fidelidade da análise genotípica do gene da fibrose cística. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  62. Health Sciences General Medicine
    Rozov T; Caldieri J; Abreu F; Fischer E; Marostiça P et al. 1991. Fibrose cística no brasil - análise epidemiológica multicêntrica. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  63. Health Sciences Genetics (clinical)
    Rozov T; Caldieri J; Abreu F; Fischer E; Marostiça P et al. 1991. Frequência das mutações do gene da fibrose cística no brasil. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  64. Health Sciences Genetics (clinical)
    Rozov T; Caldieri J; Abreu F; Fischer E; Marostiça P et al. 1991. Distribuição heterogênea dos alelos do gene da fibrose cística no brasil detectada por estudos de haplótipos. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  65. Health Sciences Genetics (clinical)
    Marostiça P J C; Leite V L; Silva A. 1991. Incidência da mutação df508 numa população de portadores de fibrose cistica e sua relação com achados clínicos. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  66. Health Sciences General Medicine
    Luchese G L; Santos J A; Jones M H; Fischer G B; Marostiça P et al. 1991. Características da população de pacientes com fibrose cística atendida no hospital de clínicas de porto alegre. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  67. Health Sciences Genetics (clinical)
    Reis F; Phillips J A III. 1991. Análise molecular e correlação genótipo/fenótipo em fibrose cística - estudo de 25 pacientes de minas gerais/brasil. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  1. Health Sciences Genetics (clinical)
    Strong ALANNA; Rao SOUMYA; Von Hardenberg SANDRA; Li DONG; Cox Liza L et al. 2023. A mutational hotspot in defines a new syndrome of orofacial clefting; cardiac anomalies; and tall stature. American journal of medical genetics part a. 63130, 1-10.
  2. Health Sciences Pediatrics, Perinatology and Child Health
    Weingartner ALANA; Pegoraro Naiara BOZZA; Maglioni Rie TIBA; Moreira Isabelle Caroline Fasolo NORMANDIA; Rodrigues Gabriela ESMANHOTO et al. 2023. Autism and duplication of 17q12q21.2 by array-cgh: a case report. Revista paulista de pediatria (online). 41, 1-5.
  3. Health Sciences Pediatrics, Perinatology and Child Health
    Migliavacca Michele PATRICIA; Fock Rodrigo AMBROSIO; Almeida NADIA; Cavalcanti THEREZA; Villela DARINE et al. 2023. A brazilian case of ifap syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in mbtps2. Revista paulista de pediatria (online). 41, 1-5.
  4. Life Sciences Genetics
    Tenney Alan P; Di Gioia Silvio ALESSANDRO; Webb Bryn D; Chan Wai MAN; De Boer ELKE et al. 2023. Noncoding variants alter gata2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics. xx, 1-15.
  5. Health Sciences Neurology (clinical)
    Efthymiou STEPHANIE; Novis Luiz E; Koutsis GEORGIOS; Koniari CHRYSOULA; Maroofian REZA et al. 2023. Pure cerebellar ataxia due to bi-allelic prdx3 variants including recurring p.asp202asn. Annals of clinical and translational neurology. xx, 1-7.
  6. Health Sciences Genetics (clinical)
    Thomas Nohama LEE; Henrique El Laden RECHETELLO; João Batista De Arêa Lima JÚNIOR; João Pedro Fagoti Ferraz CORNELIO; Naiara Bozza PEGORARO et al. 2023. Multiple copy number variation in a patient with kleefstra syndrome. Revista paulista de pediatria (online). xx, 1-5.
  7. Health Sciences Neurology (clinical)
    Novis Luiz EDUARDO; Frezatti Rodrigo S; Pellerin DAVID; Tomaselli Pedro J; Alavi SHAHRYAR et al. 2023. Frequency of gaa- fgf14</i> ataxia in a large cohort of brazilian patients with unsolved adult-onset cerebellar ataxia. Neurology genetics. 9, e200094-.
  8. Health Sciences Genetics (clinical)
    Kaur MANINDER; Blair JUSTIN; Devkota BATSAL; Fortunato SIERRA; Clark DINAH et al. 2023. Genomic analyses in cornelia de lange syndrome and related diagnoses: novel candidate genes; correlations and common mechanisms. American journal of medical genetics part a. 198, 1-15.
  9. Health Sciences Neurology (clinical)
    Akula Shyam K; Chen Allen Y; Neil Jennifer E; Shao Diane D; Mo ALISA et al. 2023. Exome sequencing and the identification of new genes and shared mechanisms in polymicrogyria. Jama neurology. xx, 1-15.
  10. Health Sciences Neurology (clinical)
    Patrícia Áurea Andreucci Martins BONILHA; Thábata Emanuelle Martins NUNES; Beatriz CASSAROTTI; Leo COUTINHO; Emanuel CASSOU et al. 2023. A teenager with benign hereditary chorea and selective tooth agenesis type 3. Movement disorders clinical practice. 10, 35-37.
  11. Health Sciences Neurology (clinical)
    Emanuel CASSOU; Luciano De PAOLA; Salmo RASKIN; Salmo RASKIN; Paula MARQUES et al. 2023. Clinical; electroencephalographic and neuroimage findings of patients with cerebellar ataxia and epilepsy. Neurology (online). 100, 9-11.
  12. Health Sciences Neurology (clinical)
    Franklin GUSTAVOLEITE; Ferreira Camargo CARLOSHENRIQUE; Balaban DANIEL; Marcon JOÃOMATHEUS; Salmo RASKIN et al. 2022. Muscle cramps profile among spinocerebellar ataxias. Annals of indian academy of neurology. 21, 1-8.
  13. Life Sciences General Biochemistry, Genetics and Molecular Biology
    Stingl KATARINA; Baumann BRITTA; De Angeli PIETRO; Vincent AJOY; Héon ELISE et al. 2022. Novel opn1lw/opn1mw exon 3 haplotype-associated splicing defect in patients with x-linked cone dysfunction. International journal of molecular sciences. 23, 6868-.
  14. Health Sciences Neurology (clinical)
    Sanderson Leslie E; Lanko KRISTINA; Alsagob MAYSOON; Almass RAWAN; Al Ahmadi NADA et al. 2021. Bi-allelic variants in hops complex subunit vps41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 11, 1-12.
  15. Health Sciences Neurology (clinical)
    Camargo Carlos Henrique FERREIRA; Silva Aline K C PIVA; Munhoz Renato P; Salmo RASKIN; Salmo RASKIN et al. 2021. Spinocerebellar ataxia type 21 ( ) with tremor and dystonia. European journal of neurology. 28, ene.14944-.
  16. Health Sciences Neurology (clinical)
    Konno Katia M; Zonta Marise BUENO; Ana Tereza Bittencourt GUIMARÃES; Camargo Carlos Henrique F; Munhoz Renato PUPPI et al. 2020. Balance and physical functioning in spinocerebellar ataxias 3 and 10. Acta neurologica scandinavica. 143, 458-463.
  17. Health Sciences Neurology (clinical)
    Arruda Walter OLESCHKO; Meira Alex TIBURTINO; Ono Sergio EIJI; De Carvalho Neto ARNOLFO; Betting Luiz Eduardo Gomes GARCIA et al. 2020. Volumetric mri changes in spinocerebellar ataxia (sca3 and sca10) patients. Cerebellum. 1, 1-8.
  18. Health Sciences Neurology (clinical)
    Arruda Walter OLESCHKO; Meira Alex TIBURTINO; Ono Sergio EIJI; De Carvalho Neto ARNOLFO; Ferreira Matheus GOMES et al. 2020. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism & related disorders. 1, 1-2.
  19. Health Sciences Neurology (clinical)
    Meira Alex TIBURTINO; Arruda Walter OLESCHKO; Ono Sergio EIJI; Franklin Gustavo LEITE; De Carvalho Neto ARNOLFO et al. 2020. Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. Parkinsonism & related disorders. 78, 73-78.
  20. Health Sciences Neurology (clinical)
    Novis Luiz EDUARDO; Spitz MARIANA; Jardim MARCIA; Salmo RASKIN; Salmo RASKIN et al. 2020. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arquivos de neuro-psiquiatria (online). 1, S0004-282X20200-.
  21. Health Sciences Neurology (clinical)
    Pereira Eduardo R; Franklin Gustavo L; Salmo RASKIN; Salmo RASKIN; Teive Hélio A G. 2020. Comment on: diagnosis of <scp>aicardi-goutières</scp> syndrome in adults. Movement disorders clinical practice. 7, 583-584.
  22. Health Sciences Genetics (clinical)
    Linnenkamp Bianca Domit WERNER; Salmo RASKIN; Salmo RASKIN; Esposito Selene ELIFIO; Herai Roberto HIROCHI. 2020. A comprehensive analysis of ahrr gene as a candidate for cleft lip with or without cleft palate. Mutation research-reviews in mutation research. 785, 1-11.
  23. Health Sciences Genetics (clinical)
    Salmo RASKIN; Salmo RASKIN. 2020. Genetics of covid-19. Jornal de pediatria. 923, 1-9.
  24. Health Sciences Neurology (clinical)
    Franklin Gustavo L; Camargo Carlos Henrique F; Meira Alex T; Pavanelli Giovana M; Milano Sibele S et al. 2020. Is ataxia an underestimated symptom of huntington's disease?. Frontiers in neurology. 11, 1-6.
  25. Health Sciences Neurology (clinical)
    Walter ARRUDA; Alex MEIRA; Sergio Eiji ONO; Arnolfo De Carvalho NETO; Salmo RASKIN et al. 2020. Gray matter changes in spinocerebellar ataxias sca3 and sca10. Neurology (online). 94, 1-.
  26. Health Sciences Neurology (clinical)
    Teive Hélio A G; Camargo Carlos Henrique F; Salmo RASKIN; Salmo RASKIN; Munhoz Renato P et al. 2019. Hyposkillia and spanophilia in the movement disorders rounds. Movement disorders. , .-.
  27. Health Sciences Genetics (clinical)
    Domingues Bernardo Machado DIAS; Nascimento Fábio A; Meira Alex TIBURTINO; Moro ADRIANA; Salmo RASKIN et al. 2019. Clinical and genetic evaluation of spinocerebellar ataxia type 10 in 16 brazilian families. Cerebellum. , 1-.
  28. Health Sciences Neurology (clinical)
    Nascimento Fábio A; Rodrigues Vinícius O R; Pelloso Fernando C; Camargo Carlos Henrique FERREIRA; Moro ADRIANA et al. 2019. Spinocerebellar ataxias in southern brazil: genotypic and phenotypic evaluation of 213 families. Clinical neurology and neurosurgery. 184, 105427-.
  29. Health Sciences Neurology (clinical)
    Meira Alex TIBURTINO; Arruda Walter OLESCHKO; Sergio Eiji ONO; Arnolfo De Carvalho NETO; Salmo RASKIN et al. 2019. Neuroradiological findings in the spinocerebellar ataxias. Tremor and other hyperkinetic movements. 9, 1-8.
  30. Life Sciences General Neuroscience
    Choi Jung HWA; Jeong Yun MI; Kim SUJIN; Lee BOYOUNG; Ariyasiri KRISHAN et al. 2018. Targeted knockout of a chemokine-like gene increases anxiety and fear responses. Proceedings of the national academy of sciences of the united states of america. -, 201707663--.
  31. Health Sciences Neurology (clinical)
    London ESTER; Camargo Carlos H F; Zanatta ALESSANDRA; Crippa Ana C; Salmo RASKIN et al. 2018. Sleep disorders in spinocerebellar ataxia type 10. Journal of sleep research. e12688, e12688-.
  32. Health Sciences Neurology (clinical)
    Silva Giulia VILELA; Bonilha PATRICIA; Moro ADRIANA; Munhoz RENATO; Salmo RASKIN et al. 2018. Spinocerebellar ataxias type 3 and 10: onset and progression of ataxia during pregnancy and puerperium. Parkinsonism & related disorders. 18, S1353-8020-.
  33. Health Sciences Neurology (clinical)
    Catai Ligia Maria PERRUCCI; Camargo Carlos Henrique FERREIRA; Moro ADRIANA; Ribas GUSTAVO; Salmo RASKIN et al. 2018. Dystonia in patients with spinocerebellar ataxia 3 - machado-joseph disease: an underestimated diagnosis?. The open neurology journal. 12, 41-49.
  34. Life Sciences Neuroscience (miscellaneous)
    Moscovich MARIANA; Munhoz Renato PUPPI; Moro ADRIANA; Salmo RASKIN; Salmo RASKIN et al. 2018. Olfactory function in sca10. Cerebellum. , .-.
  35. Health Sciences Neurology (clinical)
    Zanatta ALESSANDRA; Camargo Carlos Henrique FERREIRA; Germiniani Francisco Manoel BRANCO; Salmo RASKIN; Salmo RASKIN et al. 2018. Abnormal findings in polysomnographic recordings of patients with spinocerebellar ataxia type 2 (sca2). The cerebellum. set, 1-7.
  36. Health Sciences General Medicine
    Abagge Kerstin TANIGUCHI; Haupenthal FELIPE; Felber Gabriella YAMASHITA; Salmo RASKIN; Salmo RASKIN. 2018. Pibids syndrome in two brazilian siblings. Bmj case reports. 11, e223744-.
  37. Health Sciences Genetics (clinical)
    Schossig ANNA; Bloch Zupan AGNÈS; Lussi ADRIAN; Wolf Nicole I; Salmo RASKIN et al. 2017. Slc13a5</i> is the second gene associated with kohlschütter-tönz syndrome. Journal of medical genetics (print). 54, jmedgenet-2016-62.
  38. Health Sciences Genetics (clinical)
    Ribas D I R; Escaliante C H; Bortoli C G; De Oliveira C R F; Mikami L R et al. 2017. P.phe508del</i> ; p.gly542x</i> ; p.arg1162x</i> ; p.asn1303lys</i> ; and p.lys683serfsx38</i> mutations in cf newborn screening of brazilian children. Clinical genetics. 1, 1-2.
  39. Life Sciences Genetics
    De Souza D A S; Faucz F R; De Alexandre R B; Santana M A; De Souza E L S et al. 2017. Cystic fibrosis in afro-brazilians: xk haplotypes analysis supports the european origin of p.f508del mutation. Genetica ('s-gravenhage). 1, 1-10.
  40. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato P; Moscovich MARIANA; Arruda Walter O; Salmo RASKIN et al. 2017. Nonmotor symptoms in patients with spinocerebellar ataxia type 10. Cerebellum. 00, 00-0.
  41. Health Sciences Genetics (clinical)
    Liberalesso Paulo Breno NORONHA; Cordeiro Mara L; Karuta Simone Carreiro VIEIRA; Koladicz Karyn Regina JORDÃO; Nitsche ANDERSON et al. 2017. Phenotypic and genotypic aspects of townes-brock syndrome: case report of patient in southern brazil with a new sall1 hotspot region nonsense mutation. Bmc medical genetics. 18, 125-.
  42. Health Sciences Psychiatry and Mental Health
    Grabowski Paulo André PERA; Bello Alexandre FERREIRA; Rodrigues Diogo LIMA; Forbeci Murilo JOSÉ; Motter VINICIUS et al. 2017. Deletion involving the 7q31-32 band at the cadps2 gene locus in a patient with autism spectrum disorder and recurrent psychotic syndrome triggered by stress. Case reports in psychiatry (print). 2017, 1-4.
  43. Health Sciences Urology
    De Souza D A S; Faucz F R; Pereira Ferrari L; Sotomaior V S; Salmo RASKIN et al. 2017. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology. -, ---.
  44. Health Sciences Neurology (clinical)
    Goemans NATHALIE; Mercuri EUGENIO; Belousova ELENA; Komaki HIROFUMI; Dubrovsky ALBERTO et al. 2017. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide; drisapersen; in duchenne muscular dystrophy. Neuromuscular disorders. -, ---.
  45. Health Sciences Neurology (clinical)
    Teive Hélio Afonso GHIZONI; Camargo Carlos Henrique F; Sato Mario TERUO; Shiokawa NAOYE; Boguszewski Cesar L et al. 2017. Different cerebellar ataxia phenotypes associated with mutations of the pnpla6 gene in brazilian patients with recessive ataxias. Cerebellum. -, ---.
  46. Health Sciences Genetics (clinical)
    Santoro EDUARDO; Pandolfo HENRIQUE; Rosenfeld JILL; Salmo RASKIN; Salmo RASKIN. 2016. A 10.43mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development. Meta gene. 1, 1-1.
  47. Health Sciences Neurology (clinical)
    Teive Hélio A G; Moro ADRIANA; Arruda Walter O; Salmo RASKIN; Salmo RASKIN et al. 2016. Itajaí; santa catarina ? azorean ancestry and spinocerebellar ataxia type 3. Arquivos de neuro-psiquiatria (online). 74, 858-860.
  48. Life Sciences Genetics
    Redin CLAIRE; Brand HARRISON; Collins Ryan L; Kammin TAMMY; Mitchell ELYSE et al. 2016. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature genetics. 49, 36-45.
  49. Health Sciences Neurology (clinical)
    Teive Hélio Afonso GHIZONI; Moro ADRIANA; Moscovich MARIANA; Arruda Walter OLESKHO; Munhoz Renato PUPPI et al. 2015. Spinocerebellar ataxia type 10 in the south of brazil: the amerindian-belgian connection. Arquivos de neuro-psiquiatria (online). 73, 725-727.
  50. Health Sciences Neurology (clinical)
    Teive Hélio A G; Moro ADRIANA; Moscovich MARIANA; Arruda Walter O; Munhoz Renato P et al. 2015. Ataxia-telangiectasia - a historical review and a proposal for a new designation: atm syndrome. Journal of the neurological sciences. 355, 3-6.
  51. Health Sciences Neurology (clinical)
    Pedroso José LUIZ; Abrahao AGESSANDRO; Ishikawa KINYA; Salmo RASKIN; Salmo RASKIN et al. 2015. When should we test patients with familial ataxias for sca31? a misdiagnosed condition outside japan?. Journal of the neurological sciences. n/a, n/a-n/a.
  52. Health Sciences Radiology, Nuclear Medicine and Imaging
    Vieira Karuta Simone CARREIRO; Salmo RASKIN; Salmo RASKIN; De Carvalho Neto ARNOLFO; Gasparetto Emerson LEANDRO et al. 2015. Diffusion tensor imaging and tract-based spatial statistics analysis in friedreich?s ataxia patients. Parkinsonism & related disorders. n/a, n/a-n/a.
  53. Health Sciences Genetics (clinical)
    Nevado JULIÁN; Rosenfeld Jill A; Mena ROCÍO; Palomares Bralo MARÍA; Vallespín ELENA et al. 2015. Pias4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. European journal of human genetics. n/a, n/a-n/a.
  54. Life Sciences Neurology
    Barsottini O G P; Martins P D M; Chien H F; Salmo RASKIN; Salmo RASKIN et al. 2015. Familial striatal degeneration: new mutation and neuroimaging clues. Neurology (cleveland; ohio). 85, 1816-1818.
  55. Health Sciences Pediatrics, Perinatology and Child Health
    Dos Santos Lúcia H COUTINHO; De Carvalho Neto ARNOLFO; Salmo RASKIN; Salmo RASKIN; Bruck ISAC. 2015. Juvenile huntington disease pediatric neurologist: look at the neuroimage. Pediatric neurology. 4, 231-234.
  56. Health Sciences Genetics (clinical)
    Rojnueangnit KITIWAN; Xie JING; Gomes ALICIA; Sharp ANGELA; Callens TOM et al. 2015. High incidence of noonan syndrome features including short stature and pulmonic stenosis in patients carrying nf1</i> missense mutations affecting p.arg1809: genotype-phenotype correlation. Human mutation. 36, n/a-n/a.
  57. Health Sciences Neurology (clinical)
    Bourassa Cynthia V; Salmo RASKIN; Salmo RASKIN; Serafini SÉRGIO; Teive Hélio A G et al. 2015. A new elovl4</i> mutation in a case of spinocerebellar ataxia with erythrokeratodermia. Cadastro do periódico jama neurology. 72, 942-943.
  58. Health Sciences Medicine (miscellaneous)
    Paulo José LORENZONI; Cardoso ELAINE; Crippa Ana C S; Lourenço Charles MARQUES; Souza Fernanda Timm SEABRA et al. 2014. Niemann-pick disease type c: a case series of brazilian patients. Arquivos de neuro-psiquiatria (impresso). 72, 214-218.
  59. Life Sciences Genetics
    Silva Isabela M W; Rosenfeld JILL; Antoniuk Sergio A; Salmo RASKIN; Salmo RASKIN et al. 2014. A 1.5mb terminal deletion of 12p associated with autism spectrum disorder. Gene (amsterdam). 1, 1-4.
  60. Health Sciences Neurology (clinical)
    Camargo Carlos Henrique F; Camargos Sarah TEIXEIRA; Becker NILSON; Munhoz Renato PUPPI; Salmo RASKIN et al. 2014. Cervical dystonia: about familial and sporadic cases in 88 patients. Arquivos de neuro-psiquiatria (impresso). 72, 107-113.
  61. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato P; Arruda Walter O; Salmo RASKIN; Salmo RASKIN et al. 2014. Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arquivos de neuro-psiquiatria (impresso). 72, 659-662.
  62. Health Sciences Genetics (clinical)
    Camargo Carlos Henrique F; Camargos Sarah TEIXEIRA; Salmo RASKIN; Salmo RASKIN; Cardoso Francisco Eduardo C et al. 2014. Genetic evaluation for tor1-a (dyt1) in brazilian patients with dystonia. Arquivos de neuro-psiquiatria (impresso). 72, 753-756.
  63. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato P; Moscovich MARIANA; Arruda Walter O; Salmo RASKIN et al. 2014. Movement disorders in spinocerebellar ataxias in a cohort of brazilian patients. European neurology. 72, 360-362.
  64. Life Sciences Genetics
    Carlos Henrique CAMARGOS; Sarah Teixeira CAMARGOS; Salmo RASKIN; Francisco Eduardo Costa CARDOSO; Teive Hélio A G. 2014. Dyt6 in brazil: genetic assessment and clinical characteristics of patients. Tremor and other hyperkinetic movements. 4, 226-.
  65. Health Sciences Neurology (clinical)
    Moro ADRIANA; Martinez Alberto R M; Karuta Simone C V; Munhoz Renato P; Moscovich MARIANA et al. 2014. -pseudo-dominant? inheritance in friedreich's ataxia: clinical and genetic study of a brazilian family. Movement disorders clinical practice. 1, 361-363.
  66. Life Sciences Genetics
    Favaro Francine P; Alvizi LUCAS; Zechi Ceide Roseli M; Débora Romeo BERTOLA; Felix Temis M et al. 2013. A noncoding expansion in eif4a3 causes richieri-costa-pereira syndrome; a craniofacial disorder associated with limb defects. American journal of human genetics. 1, 120-128.
  67. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato P; Salmo RASKIN; Salmo RASKIN; Bezerra Torben C et al. 2013. Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arquivos de neuro-psiquiatria (impresso). 71, 66-66.
  68. Health Sciences Genetics (clinical)
    Mcfarland Karen N; Salmo RASKIN; Liu JILIN; Landrian IVETTE; Gao RUI et al. 2013. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. European journal of human genetics. 1, 1-2.
  69. Health Sciences Pediatrics, Perinatology and Child Health
    Souza JOSIANE; Salmo RASKIN; Salmo RASKIN. 2013. Clinical and epidemiological study of orofacial clefts. Jornal de pediatria (impresso). 89, 137-144.
  70. Health Sciences Genetics (clinical)
    Tucci ARIANNA; Kara ELEANNA; Schossig ANNA; Wolf Nicole I; Plagnol VINCENT et al. 2013. Kohlschütter-tönz syndrome: mutations in rogdi</i> and evidence of genetic heterogeneity. Human mutation. 34, 296-300.
  71. Health Sciences Obstetrics and Gynecology
    Fonseca Eduardo Borges DA; Salmo RASKIN; Salmo RASKIN; Zugaib MARCELO. 2013. Folic acid for the prevention of neural tube defects. Revista brasileira de ginecologia e obstetrícia (impresso). 35, 287-289.
  72. Health Sciences Genetics (clinical)
    França MC; Dogini DB; D Abreu A; Teive HAG; Renato Puppi MUNHOZ et al. 2013. Spg4-related hereditary spastic paraplegia: frequency and mutation spectrum in brazil. Clinical genetics. 1, n/a-n/a.
  73. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato PUPPI; Arruda Walter OLESCHKO; Salmo RASKIN; Salmo RASKIN et al. 2013. Clinical relevance of 'bulging eyes' for the differential diagnosis of spinocerebellar ataxias. Arquivos de neuro-psiquiatria (impresso). 71, 428-430.
  74. Health Sciences Neurology (clinical)
    Ermel Erica LEITAO; Carneiro Lauriane CAROLINE; Souza Carolina Fischinger Moura DE; Crippa Ana Chrystina De SOUZA; Sanseverino Maria Teresa VIEIRA et al. 2013. Epileptic encephalopathy and atypical rett syndrome with mutations in cdkl5: clinical and molecular characterization of two brazilian patients. Arquivos de neuro-psiquiatria (impresso). 71, 414-415.
  75. Health Sciences Genetics (clinical)
    Honório Jonathan CELLI; Bruns Rafael FREDERICO; Gründtner Luciana FERNANDES; Salmo RASKIN; Salmo RASKIN et al. 2013. Diastrophic dysplasia: prenatal diagnosis and review of the literature. São paulo medical journal (impresso). 1, 12-13.
  76. Health Sciences Neurology (clinical)
    Mcfarland Karen N; Liu JILIN; Landrian IVETTE; Zeng DESMOND; Salmo RASKIN et al. 2013. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (oxford. print). 15, 59-64.
  77. Health Sciences Neurology (clinical)
    Luiz Pedroso JOSÉ; Salmo RASKIN; Salmo RASKIN; Graziani Povoas Barsottini ORLANDO; Oliveira Acary S B. 2013. Adult onset alexander disease presenting with progressive spastic paraplegia. Parkinsonism & related disorders. 20, 241-242.
  78. Health Sciences Genetics (clinical)
    Da Silva Luciana Rodrigues JACY; Colovati Mileny Esbravatti STEPHANO; Coprerski BRUNO; De Andrade Carlos Eugênio FERNANDEZ; Zanoteli EDMAR et al. 2013. Spinal muscular atrophy due to a -de novo- 1.3mb deletion: implication for genetic counseling. Neuromuscular disorders. 23, 388-390.
  79. Health Sciences Genetics (clinical)
    Salmo RASKIN; Salmo RASKIN; Souza MARCELA; Medeiros Mariana C; Manfron MAYRA et al. 2013. Richieri-costa and pereira syndrome: severe phenotype. American journal of medical genetics. part a. 161A, n/a-n/a.
  80. Health Sciences Genetics (clinical)
    Zechi Ceide Roseli MARIA; Moura Priscila PADILHA; Salmo RASKIN; Salmo RASKIN; Richieri Costa ANTONIO et al. 2013. A compound heterozygote slc26a2 mutation resulting in robin sequence; mild limbs shortness; accelerated carpal ossification; and multiple epiphysial dysplasia in two brazilian sisters. a new intermediate phenotype between diastrophic dysplasia and recessi. American journal of medical genetics. part a. 161, 2088-2094.
  81. Health Sciences Genetics (clinical)
    Bem Ricardo Schmitt DE; Salmo RASKIN; Salmo RASKIN; Muzzillo Dominique ARAUJO; Deguti Marta MITIKO et al. 2013. Wilson's disease in southern brazil: genotype-phenotype correlation and description of two novel mutations in atp7b gene. Arquivos de neuro-psiquiatria (impresso). 71, 503-507.
  82. Health Sciences Genetics (clinical)
    Hélio A G TEIVE; R P MUNOZ; Walter Olescho ARRUDA; Iscia Lopes CENDES; Salmo RASKIN et al. 2012. Spinocerebellar ataxias: genotype-phenotype correlations in 104 brazilian families. Clinics (usp. impresso). 67, 443-449.
  83. Social Sciences & Humanities Psychology (miscellaneous)
    Naiana Dapieve PATIAS; Ana Cristina Garcia DIAS; Fernanda Donato MAHL; Pascale CHECHI. 2012. Práticas educativas parentais e gestação na adolescência: comparando as experiências da gestante adolescente e da adolescente sem experiência de gestação. Adolescência & saúde (uerj). 9, 18-24.
  84. Health Sciences Neurology (clinical)
    Rezende Sheyla Ariêh De SOUZA; Fernandes MAURÍCIO; Munhoz Renato PUPPI; Salmo RASKIN; Salmo RASKIN et al. 2012. Cerebellar ataxia as the first manifestation of alexander's disease. Arquivos de neuro-psiquiatria (impresso). 70, 309-310.
  85. Health Sciences Neurology (clinical)
    Moscowich W; Salmo RASKIN; Munhoz R P; Teive Hélio A G; Salmo RASKIN. 2012. Olfactory impairment in familial ataxias. Journal of neurology; neurosurgery and psychiatry. 83, 970-974.
  86. Life Sciences Neurology
    Gardiner A R; Bhatia K P; Stamelou M; Dale R C; Kurian M A et al. 2012. Prrt2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology (online). 79, 2115-2121.
  87. Health Sciences Genetics (clinical)
    Girirajan SANTHOSH; Rosenfeld Jill A; Coe Bradley P; Parikh SUMIT; Friedman NEIL et al. 2012. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. New england journal of medicine (online). 367, 1321-1331.
  88. Health Sciences Neurology (clinical)
    Hélio A G TEIVE; Walter Olesko ARRUDA; Renato Puppi MUNHOZ; J A ZAVALA; Lineu Cesar WERNECK et al. 2011. Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium. Journal of clinical neuroscience. 18, 437-438.
  89. Life Sciences Neurology
    F A DIAS; Renato Puppi MUNHOZ; Salmo RASKIN; Lineu Cesar WERNECK; Hélio A G TEIVE. 2011. Tremor in x-linked recessive spinal and bulbar muscular atrophy (kennedy's disease). Clinics (usp. impresso). 66, 955-957.
  90. Life Sciences Neurology
    Teive Hã Lio A G; Munhoz Renato P; Arruda Walter O; Raskin SALMO; Lineu Cesar WERNECK et al. 2011. Spinocerebellar ataxia type 10 â¿" a review. Parkinsonism & related disorders. 655-661.
  91. Health Sciences Genetics (clinical)
    Filho Aguinaldo BONALUMI; Souza JOSIANE; Faucz Fábio RUEDA; Sotomaior Vanessa SANTOS; Dupont BARBARA et al. 2011. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly; including eye abnormalities; documented through array-based comparative genomic hybridization. American journal of medical genetics. part a. n/a-n/a.
  92. Health Sciences Genetics (clinical)
    Rosenfeld Jill A; Drautz Joanne MILISA; Clericuzio Carol L; Cushing TOM; Salmo RASKIN et al. 2011. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. American journal of medical genetics. part a. 1, n/a-n/a.
  93. Health Sciences Genetics (clinical)
    Faucz Fabio RUEDA; Souza JOSIANE; Filho Aguinaldo BONALUMI; Sotomaior Vanessa SANTOS; Frantz EGON et al. 2011. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with asperger syndrome?. American journal of medical genetics. part a. 1, n/a-n/a.
  94. Health Sciences Cardiology and Cardiovascular Medicine
    Doetzer Andrea DUARTE; Sotomaior Vanessa SANTOS; Bubna Marcos HENRIQUE; Salmo RASKIN; Salmo RASKIN. 2011. What can be done when asymptomatic patients discover they have brugada syndrome? a case report of brugada syndrome. International journal of cardiology (print). 150, e96-e97.
  95. Health Sciences Genetics (clinical)
    Souza JOSIANE; Faucz FÁBIO; Sotomaior VANESSA; Bonalumi Filho AGUINALDO; Rosenfeld JILL et al. 2011. Chromosome 19p13.3 deletion in a child with peutz-jeghers syndrome; congenital heart defect; high myopia; learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome. Genetics and molecular biology (impresso). 34, 557-561.
  96. Life Sciences Neurology
    Lineu Cesar WERNECK; Munhoz Renato P; Raskin SALMO; Arruda Walter O; De Paola LUCIANO et al. 2010. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of brazilian patients. Movement disorders. 25, 2875-2878.
  97. Health Sciences Genetics (clinical)
    Allanson Judith E; Bohring AXEL; Dörr Helmuth GUENTHER; Dufke ANDREAS; Gillessen Kaesbach GABRIELLE et al. 2010. The face of noonan syndrome: does phenotype predict genotype. American journal of medical genetics. part a. n/a-n/a.
  98. Health Sciences Neurology (clinical)
    Silveira Moriyama LAURA; Munhoz Renato PUPI; De J Carvalho MARGARETE; Salmo RASKIN; Salmo RASKIN et al. 2010. Olfactory heterogeneity in lrrk2 related parkinsonism. Movement disorders. n/a-n/a.
  99. Health Sciences Dermatology
    Nascimento Gisele Moro DO; Nunes Caroline Sampaio ALVES; Menegotto Paula FATUCH; Salmo RASKIN; Salmo RASKIN et al. 2010. Cútis laxa: relato de caso. Anais brasileiros de dermatologia (impresso). 85, 684-686.
  100. Health Sciences Endocrinology, Diabetes and Metabolism
    Boguszewski Cesar LUIZ; Bianchet Leila CAROLINE; Salmo RASKIN; Salmo RASKIN; Nomura Luiz M et al. 2010. Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 705-710.
  101. Social Sciences & Humanities Accounting
    White Misti C; Gao RUI; Xu WEIDONG; Mandal Santi M; Lim Jung G et al. 2010. Inactivation of hnrnp k by expanded intronic auucu repeat induces apoptosis via translocation of pkcδ to mitochondria in spinocerebellar ataxia 10. Plos genetics (online). 6, e1000984-.
  102. Health Sciences Neurology (clinical)
    Munhoz Renato PUPPI; Kowacs Pedro ANDRÉ; Sória Marília GRANDO; Ducci Renata Dal PRÁ; Salmo RASKIN et al. 2009. Catamenial and oral contraceptive-induced exacerbation of chorea in chorea-acanthocytosis: case report. Movement disorders. NA-NA.
  103. Health Sciences Neurology (clinical)
    Munhoz R; Teive H; Salmo RASKIN; Salmo RASKIN; Werneck L. 2009. Cta/ctg expansions at the sca 8 locus in multiple system atrophy. Clinical neurology and neurosurgery (dutch-flemish ed.). 111, 208-210.
  104. Health Sciences Genetics (clinical)
    Faucz Fabio R; Souza Denise A S; Olandoski MARCIA; Salmo RASKIN; Salmo RASKIN. 2009. Cftr allelic heterogeneity in brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country. Journal of human genetics (print). 55, 71-76.
  105. Health Sciences Neurology (clinical)
    Munhoz Renato P; Teive Helio A; Francisco Alexandre N; Salmo RASKIN; Salmo RASKIN et al. 2009. Unilateral pallidotomy in a patient with parkinsonism and g2019s lrrk2</i> mutation. Movement disorders. 24, 791-792.
  106. Health Sciences Genetics (clinical)
    Zechi Ceide Roseli MARIA; Ribeiro Lucilene ARILHO; Salmo RASKIN; Salmo RASKIN; Bertolacini Claudia Danielli PEREIRA et al. 2009. Holoprosencephaly; ectrodactyly; and bilateral cleft of lip and palate: exclusion of shh</i> ; tgif</i> ; six3</i> ; gli2</i> ; tp73l</i> ; and dhcr7</i> as candidate genes. American journal of medical genetics. part a. 149A, 1277-1279.
  107. Life Sciences Neurology
    R P MUNHOZ; Y WAKUTNI; C MARRAS; Hélio A G TEIVE; Salmo RASKIN et al. 2008. The g2019s lrrk2 mutation in brazilian patients with parkinson's disease: phenotype in monozygotic twins. Movement disorders. 23, 290-294.
  108. Health Sciences Neurology (clinical)
    Rodrigues Guilherme G RICCIOPPO; Walker Ruth H; Brice ALEXIS; Cazeneuve CÉCILE; Russaouen ODILE et al. 2008. Huntington's disease-like 2 in brazil-report of 4 patients. Movement disorders. 23, 2244-2247.
  109. Health Sciences Neurology (clinical)
    Teive Hélio A G; Munhoz Renato P; Muzzio Juliano A; Scola Rosana H; Kay Cláudia K et al. 2008. Cerebellar ataxia; myoclonus; cervical lipomas; and merrf syndrome. case report. Movement disorders. 23, 1191-1192.
  110. Health Sciences Neurology (clinical)
    Teive Hélio A G; Munhoz Renato PUPPI; Werneck Lineu CÉSAR. 2008. Spinocerebellar ataxia type 6 in brazil. Arquivos de neuro-psiquiatria. 66, 691-.
  111. Health Sciences Pediatrics, Perinatology and Child Health
    Santos M L F; Salmo RASKIN; Salmo RASKIN; Telles D S; Löhr Junior A et al. 2008. Treatment of a child diagnosed with niemann-pick disease type c with miglustat: a case report in brazil. Journal of inherited metabolic disease. 31, 357-361.
  112. Health Sciences Neurology (clinical)
    S RASKIN; T SCHIZAWA; H A TEIVE; W O ARRUDA; P FANG et al. 2007. Reduced penetrance in a brazilian family with spinocerebellar ataxia type 10. Archives of neurology (chicago). Estados Unidos. 64, (4) 591-594.
  113. Health Sciences Neurology (clinical)
    Stachon ANDREA; Assumpção Jr Francisco BAPTISTA; Salmo RASKIN; Salmo RASKIN. 2007. Rett syndrome: clinical and molecular characterization of two brazilian patients. Arquivos de neuro-psiquiatria (impresso). 65, 36-40.
  114. Health Sciences Genetics (clinical)
    S RASKIN; L Pereira FERRARI; F R CALDEIRA; P MAROSTICA; T ROZOV et al. 2007. Incidence of cystic fibrosis in five different states of brazil as determined by screening of p.f508del; mutation at the cftr gene in newborns and patients. Journal of cystic fibrosis. 7, 15-22.
  115. Health Sciences Neurology (clinical)
    Becker NILSON; Munhoz Renato P; Salmo RASKIN; Salmo RASKIN; Werneck Lineu CÉSAR et al. 2007. Non-choreic movement disorders as initial manifestations of huntington's disease. Arquivos de neuro-psiquiatria (impresso). 65, 402-405.
  116. Health Sciences Genetics (clinical)
    Faucz FR; Gimenez J; Ramos MD; Lilian Pereira FERRARI; X ESTIVILL et al. 2007. Cystic fibrosis in a southern brazilian population: characteristics of 90% of the alleles. Clinical genetics. 72, 218-223.
  117. Health Sciences Neurology (clinical)
    Teive Hélio A G; Arruda Walter O; Salmo RASKIN; Salmo RASKIN; Ashizawa TETSUO et al. 2007. The history of spinocerebellar ataxia type 10 in brazil: travels of a gene. Arquivos de neuro-psiquiatria (impresso). 65, 965-968.
  118. Life Sciences Genetics
    Salmo RASKIN; Salmo RASKIN; Petzl Erler M L; Phillips J A; Pereira Ferrari L et al. 2007. Cystic fibrosis gene variability in two southern brazilian amerindian populations: analysis of the -f508 mutation and the km19 and xv2c haplotypes. Human biology. 79, 79-91.
  119. Life Sciences Genetics
    R MUNHOZ; T KAWARAI; E ROGAEVA; H A G TEIVE; S RASKIN et al. 2006. Clinical and genetic study of a brazilian family with spastic paraplegia (spg6 locus). Arquivos de neuro-psiquiatria. Brasil. 64, 139-139.
  120. Health Sciences Neurology (clinical)
    Munhoz RP; Teive H; Troiano A R. 2006. Atypical parkinsonism and sca8. Parkinsonism & related disorders. 12, 191-192.
  121. Health Sciences Geriatrics and Gerontology
    2006. O papel da genética no envelhecimento: implicações na qualidade de vida do idoso. Revista médica do paraná. 63, 5-9.
  122. Health Sciences Genetics (clinical)
    Martin ZENKER; Katarina LEHMANN; Schulz A L; Helmut BARTH; Dagmar HANSMANN et al. 2006. Expansion of the genotypic and phenotypic spectrum in patients with kras germline mutations. Journal of medical genetics (print). 44, 131-135.
  123. Health Sciences Genetics (clinical)
    Carrera RC; Yamasaki R; Bragança W. 2006. Etiologic investigations on male infertility before intracytoplasmatic sperm injection (icsi). Genetic counseling. 17, 385-389.
  124. Life Sciences Genetics
    Polityko A; Starke H; Rumyantseva N; Claussen U; Liehr T. 2005. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenetic and genome research. 111, (2) 171-174.
  125. Social Sciences & Humanities Accounting
    Mariane BONATO. 2005. O impacto psicológico do diagnóstico positivo do teste do pezinho na relação mãe-bebê. Estudos de biologia. 27, 33-37.
  126. Health Sciences Neurology (clinical)
    Trentin Ana P; Scola Rosana H; Teive Hélio A G; Salmo RASKIN; Salmo RASKIN et al. 2005. Kennedy's disease phenotype with positive genetic study for kugelberg-welander's disease: case report. Arquivos de neuro-psiquiatria (impresso). 63, 330-331.
  127. Health Sciences Genetics (clinical)
    Kurotaki NAOHIRO; Shen Joseph J; Touyama MAYUMI; Kondoh TATSURO; Visser REMCO et al. 2005. Phenotypic consequences of genetic variation at hemizygous alleles: sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (fxii) deficiency. Genetics in medicine. 7, 479-483.
  128. Life Sciences Neurology
    H A F TEIVE; A R TROIANO; S RASKIN; Lineu Cesar WERNECK. 2004. Leber's hereditary optic neuropathy - case report and literature review. São paulo medical journal. Brasil. 122, (6) 276-279.
  129. Life Sciences Neuroscience (miscellaneous)
    H A TEIVE; E R PEREIRA; J A ZAVALA; M C LANGE; L De PAOLA et al. 2004. Generalized dystonia and striatal calcifications with lipoid proteinosis. Neurology (cleveland; ohio). Estados Unidos. 63, 2168-2169.
  130. Life Sciences Genetics
    H A G TEIVE; B B ROA; S RASKIN; P FANG; W O ARRUDA et al. 2004. Clinical phenotype of brazilian families with spinocerebellar ataxia 10. Neurology (cleveland; ohio). 63, 1509-1512.
  131. Health Sciences Genetics (clinical)
    G COUTINHO; M MITUI; C CAMPBELL; B COSTACARVALHO; R GATTI et al. 2004. Five haplotypes account for fifty-five percent of atm mutations in brazilian patients with ataxia telangiectasia: seven new mutations. American journal of medical genetics (print) (cessou em 2002. foi desdobrado em três: issn 1552-4825; 1552-4841 e 1552-4868). 126A, 33-40.
  132. Health Sciences Neurology (clinical)
    Kowacks PA; Lineu C WERNECK; H FAMELI; Mc LANGE. 2004. Report of cluster headache in a pair of monozygous twins. The journal of headache and pain (testo stampato). 5, 140-143.
  133. Health Sciences Neurology (clinical)
    Lange MC; V H ZETOLA; Hélio A TEIVE; R H SCOLA; Trentin AP et al. 2004. Cerebrotendinous xanthomatosis: report of two brazilian brothers. Arquivos de neuro-psiquiatria (impresso). 62, (4) 1085-1089.
  134. Health Sciences Dermatology
    Isabelle Rego BARROS. 2004. Epidermólise bolhosa distrófica: relato de caso brasileiro. Estudos de biologia. 26, 25-30.
  135. Life Sciences Virology
    Henrique PRETI. 2004. Freqüência fenotípica do vírus da hepatite c e de seus subtipos em 58 casos constatados no paraná. Estudos de biologia. 26, 31-40.
  136. Life Sciences Clinical Biochemistry
    Hh LEE; S F SCHANG; Y LLEE. 2003. Deletion of the c4-cyp21 repeat module leading to the formation of a chieric cyp21p/cyp21 gene in a 9.3-kb fragment as a cause of steroid 21-hidroxylase deficiency. Clinical chemistry (baltimore; md.). 49, (2) 319-322.
  137. Health Sciences Neurology (clinical)
    E LOHMAN; M PERIQUET; V BONIFFATTI; Nw WOOD; Giuseppe De MICHELE et al. 2003. How much phenotypic variation can be attributed toparkin genotype?. Annals of neurology. 54, (2) 176-185.
  138. Life Sciences Neurology
    N RAWAL; M PERIQUET; E LOHMANN; Cb LUCKING; Helio TEIVE. 2003. New parkin mutations and atypical phenotypes in families with autossomal recessive parkinsonism. Neurology (cleveland; ohio). 60, (8) 1378-1381.
  139. Life Sciences Genetics
    E M Goloni BERTOLLO; A R ROSSIT; J B Salomão JUNIOR; A C Fett CONTE. 2003. Cftr molecular analysis reveals infrequent allele frequencies in são paulo state; brazil. Human biology. 75, (3) 393-398.
  140. Health Sciences Genetics (clinical)
    L PEREIRA; F REIS; N ROSARIO; N LUDWIG; L VALENTIN et al. 2003. High allelic heterogeneity between afro-brazilians and euro-brazilians impacts cystic fibrosis genetic testing. Genetic testing (cessou em 2008. cont. issn 1945-0265 genetic testing and molecular biomarkers). 7, (3) 213-218.
  141. Health Sciences Genetics (clinical)
    L CLAES; B CELEUMANS; D AUDENAERT; K SMETS; A LOFGREN et al. 2003. De novoscn1a mutations are a major cause of severe myoclonic epilepsy of infancy. Human mutation. 21, (6) 615-621.
  142. Health Sciences Genetics (clinical)
    Matsumoto N; L KAMIMURA; Y ENDO; J KAMIMURA; N KUROTAKI et al. 2003. Identification of eight novel nsd1 mutations in sotos syndrome. Journal of medical genetics. 40, (11) 126-127.
  143. Health Sciences Pediatrics, Perinatology and Child Health
    Luiz Vicente Ferreira Da Silva FILHO; Maria Helena De Carvalho Ferreira BUSSAMRA; Cleyde Miriam Aversa NAKAIE; Fabiola Villac ADDE; Joaquim Carlos RODRIGUES. 2003. Cystic fibrosis with normal sweat chloride concentration ? case report. Revista do hospital das clínicas (fmusp). 58, 260-262.
  144. Health Sciences Endocrinology, Diabetes and Metabolism
    Camacho S. 2003. Apresentação de caso clínico - síndrome de seckel. Endocrinologia & diabetes clínica e experimental. 4, 180-182.
  145. Health Sciences Genetics (clinical)
    Sun GUANGYUN; Mcgarvey Stephen T; Bayoumi RIAD; Mulligan Connie J; Barrantes RAMIRO et al. 2003. Global genetic variation at nine short tandem repeat loci and implications on forensic genetics. European journal of human genetics. 11, 39-49.
  146. Health Sciences Neurology (clinical)
    Magali PERIQUET; Morwena LATOUCHE; Ebba LOHMANN; Giuseppe De MICHELE; Sylvain RICARD et al. 2003. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 127, 1271-.
  147. Health Sciences Neurology (clinical)
    Nina RAWAL; M PERIQUET; Alexandra DURR; Giuseppe De MICHELE; V BONIFFATTI et al. 2002. Exclusion of the nurr1 gene in autosomal recessive parkinson's disease. Journal of neurology (print). 249, (8) 1127-1129.
  148. Health Sciences Endocrinology, Diabetes and Metabolism
    2002. O mapeamento genético de pit-1 em humanos: o gene dos genes. Endocrinologia & diabetes clínica e experimental. 2, 47-48.
  149. Health Sciences Neurology (clinical)
    R H SCOLA; L C WERNECK; F M IWAMOTO; L C RIBAS. 2001. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. Arquivos de neuro-psiquiatria (impresso). 59, (2-A) 259-262.
  150. Health Sciences Neurology (clinical)
    H A TEIVE; F M IWAMOTO; M H POLYMEROPOULOS; Et AL. 2001. The g209a mutation in the alpha-synuclein gene in brazilian families with parkinson's disease. Arquivos de neuro-psiquiatria (impresso). 59, 722-724.
  151. Health Sciences Genetics (clinical)
    Kwok JB; Morgan G Antoniuk Sa Bruk I Schofiel PR. 2001. Mutations in the glycine receptor alpha 1 subunit (glra1) gene in hereditary hyperklepxia pedigrees: evidence for non penetrance of mutation y279c. Journal of medical genetics. Estados Unidos. 38, (6) 17-17.
  152. Health Sciences Genetics (clinical)
    N ALLAN; H A TEIVE; F CARDOSOS; M S HADAD; G LEVI et al. 2000. Huntington disease: dna analysis in brazilian population. Arquivos de neuro-psiquiatria (impresso). 58, 977-985.
  153. Health Sciences Genetics (clinical)
    Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C; Parker R A et al. 1999. Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. Human biology. Estados Unidos. -.
  154. Health Sciences Neurology (clinical)
    G LEVY; M E NOBRE; V T CIMINI; E EGELHARDT. 1999. Juvenile huntington's disease confirmed by genetic examination in twins. Arquivos de neuro-psiquiatria (impresso). 57, 867-869.
  155. Health Sciences Genetics (clinical)
    O Nneil P; L TROMBLEY; M GUNDEL; Y HUNTER; J A NICKLAS et al. 1999. Identification of a new lesch-nyhan syndrome mutation (hprt brasil) and analysis of potentially heterozygous females. Arquivos de neuro-psiquiatria (impresso). 57, (4) 907-911.
  156. Health Sciences Neurology (clinical)
    Almeida Db Pedroso Aa Ramina R Arruda WO; Walter ARRUDA; Ricardo RAMINA; A PEDROZO. 1999. Migrânea com afasia: relato de uma família. Arquivos de neuro-psiquiatria (impresso). 57, (1) 111-113.
  157. Health Sciences Pediatrics, Perinatology and Child Health
    L NORONHA; G SAMPAIO; M R NETTO; J S Reis FILHO; L N FAORO et al. 1999. Neurocutaneous melanosis. Jornal de pediatria. 75, (4) 277-280.
  158. Life Sciences Genetics
    Lilian Pereira FERRARI; Lodércio CULPI. 1999. Cystic fibrosis mutations r1162x and 2183aa<font face='symbol'>&reg-</font>g in two southern brasilian states. Genetics and molecular biology (impresso). 22, 291-294.
  159. Health Sciences Microbiology (medical)
    Burger M; Brockelt S; Amthor B; Geiss H; Haas W. 1998. Dna fingerprinting of mycobacterium tuberculosis complex culture isolates collected in brazil and spotted onto filter paper. Journal of clinical microbiology. 36, (2) 573-576.
  160. Health Sciences Genetics (clinical)
    Marostica P; Abreu F. 1998. Analysis of the <font face='symbol'>d</font>f508 mutation in a brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients. Brazilian journal of medical and biological research. 31, (4) 529-532.
  161. Health Sciences Endocrinology, Diabetes and Metabolism
    Martineli A M R; Braga M; De Lacerda L; Graf H. 1998. Description of a brazilian patient bearing the r271w pit-1</i> gene mutation. Thyroid (new york; n.y.). 8, (4) 299-304.
  162. Health Sciences Neurology (clinical)
    Zetola VH; Scola R; Prevedello Dm Correa Neto Y; Werneck L. 1998. Rigid spine syndrome: case report. Arquivos de neuro-psiquiatria (impresso). 56, (4) 812-818.
  163. Health Sciences Neurology (clinical)
    D R Kaimen MACIEL; M C R MEDEIROS; V M CLIMACO; G L R KELIAN; L S T SILVA et al. 1998. Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo x (doença de kennedy): estudo de uma família. Arquivos de neuro-psiquiatria (impresso). 56, 639-645.
  164. Health Sciences Obstetrics and Gynecology
    1997. Avaliação do risco fetal por uma gota de sangue em papel filtro. Newslab. 18, 130-131.
  165. Health Sciences Genetics (clinical)
    Leal M F. 1997. Avaliação do risco fetal para doenças genética por marcadores bioquímicos: uma nova proposta. Revista de atualização em ginecologia e obstetrícia. VIII, (4) 210-.
  166. Life Sciences Genetics
    S RASKIN; J A PHILLIPS; M R S KRISHNAMANI; C VNENCAKJONES; R A PARKER et al. 1997. Cystic fibrosis in the brazilian population: df508 mutation and km-19/xv-2c haplotype distribution. Human biology. Estados Unidos. 69, (4) 499-508.
  167. Health Sciences Genetics (clinical)
    Phillips J A III; Krishnamani M R S; Vnencak Jones C; Parker R A; Dawson E et al. 1997. Regional distribution of cystic fibrosis - linked dna haplotypes in brazil: multicenter study. Human biology. 69, (1) 75-88.
  168. Health Sciences Genetics (clinical)
    Leal M F. 1997. Validade da técnica de pcr-str na determinação de paternidade em dna. Laes/haes. 34, 100-.
  169. Life Sciences Genetics
    Phillips J A III; Summar M L; Sherrill C G; Garr J L; Moreno A et al. 1996. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Human genetics. 98, 703-705.
  170. Life Sciences General Neuroscience
    1996. Teste de dna para a doença de alzheimer. O dendrito. Ano 3, (3) 321-3223.
  171. Health Sciences Genetics (clinical)
    Rogan P K; Seip J; Driscoll D; Papenhausen P; Johnson V et al. 1996. Distinct 15q genotypes in russell-silver and ring 15 syndromes. American journal of medical genetics. 62, 10-15.
  172. Health Sciences Genetics (clinical)
    Maróstica P; Santos J; Souza W; Silva F. 1995. Estimativa da incidência de fibrose cística em porto alegre: análise a partir da frequência da mutação df508 em recém-nascidos normais. Revista amrigs. 39, (3) 205-207.
  173. Health Sciences Genetics (clinical)
    Deka R; Miki T; Yin S J; Mcgarvey S T; Shiver M D et al. 1995. Normal cag repeat variation at the drpla locus in world populations. American journal of medical genetics. 57, 508-511.
  174. Social Sciences & Humanities Philosophy
    1995. Ética e genética. Educar em revista. 11, 27-32.
  175. Health Sciences General Medicine
    Almeida M. 1995. Da necessidade de uma nova união entre o direito e a medicina genética. Tribuna do judiciário. 3, 100-.
  176. Health Sciences Genetics (clinical)
    Hamosh A; B J ROSENSTEIN; E NASH; S M CURRISTIN; Garry CUTTING et al. 1993. Correlation between genotype and phenotype in patients with cystic fibrosis. New england journal of medicine (print). 329, (18) 1308-1313.
  177. Health Sciences Genetics (clinical)
    Phillips J A III; Krihnamani M R S; Vnencak Jones C; Parker R A; Rozov T et al. 1993. Dna analysis of cystic fibrosis in brazil by direct pcr amplification from guthrie cards. American journal of medical genetics (print) (cessou em 2002. foi desdobrado em três: issn 1552-4825; 1552-4841 e 1552-4868). 46, 665-669.
  178. Health Sciences Genetics (clinical)
    Chakraborty R; Srinivasan M R. 1993. Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. American journal of medical genetics. 52, 1129-1138.
  179. Life Sciences Genetics
    Taylor B A. 1993. Mapping of a pit-1 pcr-rflv in recombinant inbred strains. Mouse genome. 91, (1) 134-136.
  180. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    J A Iii PHILIPIS; C VNENCAKJONES. 1992. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. Biotechniques. 13, (3) 372-374.
  181. Life Sciences General Biochemistry, Genetics and Molecular Biology
    J A Iii PHILLIPIS; G KAPLAN; M MCCLURE; C VNENCAKJONES. 1992. Cystic fibrosis genotyping by direct pcr analysis of guthrie blood spots. Pcr methods and applications. 2, 154-156.
  182. Health Sciences Genetics (clinical)
    Phillips J A III. 1992. Genetic diagnosis of cystic fbrosis in the perinatal period. Tennessee perinatal association. Estados Unidos. 2, (1) 6-6.
  183. Health Sciences Genetics (clinical)
    Cabanero J C M; Jurado L A P; Vicario J L; Perez A B; Novo M D G. 1992. Simple method for cystic fibrosis carrier screening. Lancet (british edition). 340, (8825) 983-984.
  184. Life Sciences Genetics
    Osborne L; G SANTIS; Schwarz M; Klinger K. 1992. Incidence and expression of the n1303k mutation of the cystic fibrosis (cftr) gene. Human genetics. 89, 653-658.
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    A LUIZ; M VIEIRA. 1988. Síndrome de dressler - um diagnóstico esquecido?. Revista médica do paraná. 46, (1) 7-10.
  1. Social Sciences & Humanities General Psychology
    Salmo RASKIN; Salmo RASKIN. 2017. Apresentando o tea aos pais e familiares. In: Entendendo o autismo: guia prático para familiares e profissionais da área. Brasil.
  2. Health Sciences Otorhinolaryngology
    Salmo RASKIN; Salmo RASKIN. 2012. Doenças genéticas em otoneurologia. In: A multidisciplinaridade na otoneurologia. Brasil.
  3. Health Sciences Genetics (clinical)
    Salmo RASKIN; Fábio Rueda FAUCZ. 2006. Genética clínica - noções de biologia molecular. In: Tratado de pediatria. Brasil.
  4. Health Sciences Genetics (clinical)
    Aba Perez Ap Marques De FARIA. 2005. Genética médica: teste laboratorial para diagnóstico de doenças sintomáticas. In: Projeto diretrizes. Brasil.
  5. Health Sciences Neurology (clinical)
    Murilo Sousa De MENEZES; Hélio A TEIVE; Salo HARATZ. 2002. Genética da doença de parkinson. In: Doença de parkinson: aspéctos clínicos e cirúrgicos. Brasil.
  6. Health Sciences Genetics (clinical)
    Fábio Rueda FAUCZ. 2001. Conceitos básicos e principais técnicas de análise molecular. In: Doenças genéticas em pediatria. Brasil.
  7. Health Sciences Genetics (clinical)
    Fábio Rueda FAUCZ. 2001. Aspéctos genéticos da fibrose cística. In: Doenças genéticas em pediatria. Brasil.
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    2000. A análise de dna na determinação de paternidade: mitos e verdades no limiar do século xxi. In: Grandes temas da atualidade - dna como meio de prova da filiação. Brasil.
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    Silvia Regina Caminada De TOLEDO; Decio BRUNONI. 1998. Aspectos genéticos em doenças pulmonares. In: Pneumologia: atualização e reciclagem. Brasil.
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    1998. Genética da síndrome de gilles tourette. In: Síndrome de gilles de la tourette: tiques nervosos e transtornos de comportamento associados na infância e adolescência. Brasil.
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