Celia Priszkulnik Koiffmann

Dados pessoais

Publicações

Total: 208

Área temática ASJC

Percentual das publicações classificadas

  • HS Ciências da Saúde
  • LS Ciências da Vida
  • MU Multidisciplinar
  • PS Ciências Físicas
  • SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Termos frequentes nas publicações

Nuvem de termos dos títulos das publicações
Nome Vínculo Links Grande área de atuação Área de atuação
Chong Ae KIM Ciências da Saúde Medicina
Erasmo Barbante CASELLA Ciências da Saúde Medicina
Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 8

Mapa de calor das categorias ASJC por ano
Categoria ASJC19741977197819811982198419851986198719881989199019911992199319941995199619971998199920002001200220032004200520062007200820092010201120122013201420152017201820202021202220232024
1311 · Genetics11101021301030612316546527785564024110001000
2716 · Genetics (clinical)00000121122210312302652210242013120101100001
2735 · Pediatrics; Perinatology and Child Health00000000000021000000110000000100000000100000
2701 · Medicine (miscellaneous)00000010021000000000000000001000000000000100
2808 · Neurology00000000000010000010001010010010000000000000
1103 · Animal Science and Zoology00010000000000000000000000200010000000000000
1309 · Developmental Biology00000000000000000000000001000002000000000010
2806 · Developmental Neuroscience00000000010000000102000000000000000000000000
2712 · Endocrinology; Diabetes and Metabolism00000000000000000000000000000100010000001000
1105 · Ecology; Evolution; Behavior and Systematics00000000000000000000000000000000100000010000
2801 · Neuroscience (miscellaneous)00000000000000000000000101000000000000000000
1312 · Molecular Biology00000000000000000000000000000100000000000000
2710 · Embryology00000000010000000000000000000000000000000000
2728 · Neurology (clinical)00000000000000000000000000100000000000000000
2734 · Pathology and Forensic Medicine00000000000000000000010000000000000000000000
2736 · Pharmacology (medical)00000000000000000010000000000000000000000000
2805 · Cognitive Neuroscience00000000000000000000000010000000000000000000
208 publicação(ões)
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Ano Tipo Registro Área temática e categoria ASJC
2024 Artigo em periódico
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature Giovanna Cantini TOLEZANO; Giovanna Civitate BASTOS; Sílvia Souza Da COSTA; Bruna Lucheze FREIRE; Thais Takaoka HOMMA et al JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS DOI 10.1007/s10803-022-05853-z ISSN 0162-3257
HS Genetics (clinical)
2023 Artigo em periódico
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome Carvalho Laura Machado LARA; Branco Elisa VARELLA; Sarafian Raquel DELGADO; Kobayashi Gerson SHIGERU; De Araújo Fabiano TÓFOLI et al GENE DOI 10.1016/j.gene.2023.147424 ISSN 0378-1119
LS Developmental Biology
2022 Artigo em periódico
Genetic investigation of syndromic forms of obesity Carvalho Laura Machado LARA; D Angelo Carla SUSTEK; Villela DARINE; Da Costa Silvia SOUZA; De Lima Jorge Alexander AUGUSTO et al International Journal of Obesity DOI 10.1038/s41366-022-01149-5 ISSN 1476-5497
HS Medicine (miscellaneous)
2021 Artigo em periódico
A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review Carvalho Laura M L; D Angelo Carla S; Mustacchi ZAN; Da Silva Israel T; Krepischi Ana Cristina V et al Obesity Research & Clinical Practice DOI 10.1016/j.orcp.2021.01.001 ISSN 1871-403X
HS Endocrinology; Diabetes and Metabolism
2021 Artigo em periódico
Two novel pathogenic variants in MED13L</i> : one familial and one isolated case Carvalho L M L; Costa S S; Campagnari F; Kaufman A; Debora Romeo BERTOLA et al JOURNAL OF INTELLECTUAL DISABILITY RESEARCH DOI 10.1111/jir.12891 ISSN 0964-2633
LS Genetics
2020 Artigo em periódico
Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta) Doyle Esmeralda D; Prates IVAN; Sampaio IRACILDA; Celia Priszkulnik KOIFFMANN; Silva Wilson ARAUJO et al PRIMATES DOI 10.1007/s10329-020-00854-x ISSN 0032-8332
LS Ecology; Evolution; Behavior and Systematics
2018 Artigo em periódico
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity D Angelo Carla SUSTEK; Monica Castro VARELA; De Castro Claudia Irene EMÍLIO; Paulo Alberto OTTO; Perez Ana Beatriz ALVAREZ et al Molecular Cytogenetics DOI 10.1186/s13039-018-0363-7 ISSN 1755-8166
HS Genetics (clinical)
2018 Artigo em periódico
SÍNDROME DE PRADER WILLI: O QUE O PEDIATRA GERAL DEVE FAZER - UMA REVISÃO Passone Caroline Buff GOUVEIA; Pasqualucci Paula LAGE; Franco Ruth ROCHA; Ito Simone SAKURA; Mattar Larissa Baldini FARJALLA et al REVISTA PAULISTA DE PEDIATRIA (IMPRESSO) DOI 10.1590/1984-0462/-2018-36-3-00003 ISSN 0103-0582
HS Pediatrics; Perinatology and Child Health
2017 Artigo em periódico
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins Jehee Fernanda S; De Oliveira Valdirene T; Gurgel Giannetti JULIANA; Pietra Rafaella X; Rubatino Fernando V M et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.38315 ISSN 1552-4825
HS Genetics (clinical)
2015 Artigo em periódico
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8-12) among Individuals with Syndromic Obesity D Angelo Carla S; Moller Dos Santos Mauren F; Alonso Luis G; Celia Priszkulnik KOIFFMANN Molecular Syndromology DOI 10.1159/000371600 ISSN 1661-8769
LS Genetics
2014 Artigo em periódico
Accurate; Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR Cunha Pricila Da SILVA; Pena Heloisa B; D Angelo Carla SUSTEK; Celia Priszkulnik KOIFFMANN; Rosenfeld Jill A et al Disease Markers (Print) DOI 10.1155/2014/836082 ISSN 0278-0240
LS Genetics
2014 Artigo em periódico
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes Carla Sustek D ANGELO; Monica C VARELA; Cláudia I E De CASTRO; Chong A KIM; Debora R BERTOLA et al Molecular Cytogenetics DOI 10.1186/s13039-014-0075-6 ISSN 1755-8166
HS Genetics (clinical)
2013 Trabalho em evento
Molecular Diagnosis of Deletions and Duplications Associated with Intellectual Disability and Obesity Carla Sustek D ANGELO; M F M SANTOS; C A E KIM; Charles Marques LOURENÇO; Celia Priszkulnik KOIFFMANN 63rd Annual Meeting of the American Society of Human Genetics
LS Genetics
2013 Artigo em periódico
Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint Kette D VALENTE; Monica Castro VARELA; Celia Priszkulnik KOIFFMANN; Fernando KOK; Maria J Marques DIAS Epilepsy Research DOI 10.1016/j.eplepsyres.2012.12.005 ISSN 0920-1211
LS Genetics
2013 Artigo em periódico
Obesity with associated developmental delay and/or learning disability in patients exibiting additional features: Report of novel pathogenic copy number variants. Carla S DÁNGELO; I KOHL; Monica C VARELA; Claudia De CASTRO; Chong Ae KIM et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.35761 ISSN 1552-4825
LS Genetics
2013 Artigo em periódico
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? Silva Amanda G; Ana Cristina Victorino KREPISCHI; Torrezan Giovana T; Capelli Leonardo P; Carraro Dirce M et al European Journal of Human Genetics DOI 10.1038/ejhg.2013.134 ISSN 1018-4813
LS Genetics
2012 Trabalho em evento
Array Genomic Hybridization in Syndromic Obesity Carla S D ANGELO; Ilana KOHL; M F M Dos SANTOS; Cláudia I E De CASTRO; C A KIM et al The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Conference
LS Genetics
2012 Trabalho em evento
Array-Based Copy Number Analysis in Patients Associating Obesity and Developmental Delay/Learning Disabilities and Additional Features Carla Sustek D ANGELO; Ilana KOHL; Cláudia I E De CASTRO; C A KIM; Debora R BERTOLA et al American Society of Human Genetic (ASHG) Meeting
HS Genetics (clinical)
2012 Artigo em periódico
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency Capelli Leonardo P; Krepischi Ana C V; Gurgel Giannetti JULIANA; Mendes Mirian Fabiola S; Rodrigues TATIANE et al European Journal of Medical Genetics DOI 10.1016/j.ejmg.2011.10.004 ISSN 1769-7212
HS Genetics (clinical)
2012 Artigo em periódico
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome Quaio CR; Almeida TF; Albano LM; Gomy I; Bertola DR et al Clinics (USP. Impresso) DOI 10.6061/clinics/2012(08)11 ISSN 1807-5932
HS Endocrinology; Diabetes and Metabolism
2012 Artigo em periódico
Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches Carla Sustek D ANGELO; Celia Priszkulnik KOIFFMANN Journal of Obesity (Print) DOI 10.1155/2012/845480 ISSN 2090-0708
LS Genetics
2011 Trabalho em evento
Comprehensive analysis of novel disease-causing copy number variants Carla Sustek D ANGELO; Celia Priszkulnik KOIFFMANN 12th International Congress of Human Genetics/61st ASHG Annual Meeting
HS Genetics (clinical)
2011 Artigo em periódico
Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species; A. guariba Celia Priszkulnik KOIFFMANN; Gifalli Iughetti CRISTIANI; Koiffman Celia PRISZKULNIK; Harris Eugene E Primates DOI 10.1007/s10329-010-0226-2 ISSN 0032-8332
LS Ecology; Evolution; Behavior and Systematics
2010 Capítulo de livro
Cromossomopatias Celia Priszkulnik KOIFFMANN; Aron DIAMENT Neurologia Infantil ISBN 9788538800989
HS Genetics (clinical)
2010 Trabalho em evento
Neuronal differentiation of human mesenchymal stem cells from exfoliated deciduous teeth obtained from Angelman syndrome patients Estela Mitie CRUVINEL; Secco M; Almeida C A N; Mayana ZATZ; Celia Priszkulnik KOIFFMANN International Society for Stem Cell Research - ISSCR 8th Annual Meeting
LS Developmental Biology
2024 Artigo em periódico
HS Genetics (clinical)

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

Giovanna Cantini TOLEZANO; Giovanna Civitate BASTOS; Sílvia Souza Da COSTA; Bruna Lucheze FREIRE; Thais Takaoka HOMMA et al

DOI ISSN 0162-3257
2023 Artigo em periódico
LS Developmental Biology

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome

GENE

Carvalho Laura Machado LARA; Branco Elisa VARELLA; Sarafian Raquel DELGADO; Kobayashi Gerson SHIGERU; De Araújo Fabiano TÓFOLI et al

DOI ISSN 0378-1119
2022 Artigo em periódico
HS Medicine (miscellaneous)

Genetic investigation of syndromic forms of obesity

International Journal of Obesity

Carvalho Laura Machado LARA; D Angelo Carla SUSTEK; Villela DARINE; Da Costa Silvia SOUZA; De Lima Jorge Alexander AUGUSTO et al

DOI ISSN 1476-5497
2021 Artigo em periódico
HS Endocrinology; Diabetes and Metabolism

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review

Obesity Research & Clinical Practice

Carvalho Laura M L; D Angelo Carla S; Mustacchi ZAN; Da Silva Israel T; Krepischi Ana Cristina V et al

DOI ISSN 1871-403X
2021 Artigo em periódico
LS Genetics

Two novel pathogenic variants in MED13L</i> : one familial and one isolated case

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

Carvalho L M L; Costa S S; Campagnari F; Kaufman A; Debora Romeo BERTOLA et al

DOI ISSN 0964-2633
2020 Artigo em periódico
LS Ecology; Evolution; Behavior and Systematics

Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta)

PRIMATES

Doyle Esmeralda D; Prates IVAN; Sampaio IRACILDA; Celia Priszkulnik KOIFFMANN; Silva Wilson ARAUJO et al

DOI ISSN 0032-8332
2018 Artigo em periódico
HS Genetics (clinical)

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Molecular Cytogenetics

D Angelo Carla SUSTEK; Monica Castro VARELA; De Castro Claudia Irene EMÍLIO; Paulo Alberto OTTO; Perez Ana Beatriz ALVAREZ et al

DOI ISSN 1755-8166
2018 Artigo em periódico
HS Pediatrics; Perinatology and Child Health

SÍNDROME DE PRADER WILLI: O QUE O PEDIATRA GERAL DEVE FAZER - UMA REVISÃO

REVISTA PAULISTA DE PEDIATRIA (IMPRESSO)

Passone Caroline Buff GOUVEIA; Pasqualucci Paula LAGE; Franco Ruth ROCHA; Ito Simone SAKURA; Mattar Larissa Baldini FARJALLA et al

DOI ISSN 0103-0582
2017 Artigo em periódico
HS Genetics (clinical)

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Jehee Fernanda S; De Oliveira Valdirene T; Gurgel Giannetti JULIANA; Pietra Rafaella X; Rubatino Fernando V M et al

DOI ISSN 1552-4825
2015 Artigo em periódico
LS Genetics

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8-12) among Individuals with Syndromic Obesity

Molecular Syndromology

D Angelo Carla S; Moller Dos Santos Mauren F; Alonso Luis G; Celia Priszkulnik KOIFFMANN

DOI ISSN 1661-8769
2014 Artigo em periódico
LS Genetics

Accurate; Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

Disease Markers (Print)

Cunha Pricila Da SILVA; Pena Heloisa B; D Angelo Carla SUSTEK; Celia Priszkulnik KOIFFMANN; Rosenfeld Jill A et al

DOI ISSN 0278-0240
2014 Artigo em periódico
HS Genetics (clinical)

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

Molecular Cytogenetics

Carla Sustek D ANGELO; Monica C VARELA; Cláudia I E De CASTRO; Chong A KIM; Debora R BERTOLA et al

DOI ISSN 1755-8166
2013 Trabalho em evento
LS Genetics

Molecular Diagnosis of Deletions and Duplications Associated with Intellectual Disability and Obesity

63rd Annual Meeting of the American Society of Human Genetics

Carla Sustek D ANGELO; M F M SANTOS; C A E KIM; Charles Marques LOURENÇO; Celia Priszkulnik KOIFFMANN

2013 Artigo em periódico
LS Genetics

Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint

Epilepsy Research

Kette D VALENTE; Monica Castro VARELA; Celia Priszkulnik KOIFFMANN; Fernando KOK; Maria J Marques DIAS

DOI ISSN 0920-1211
2013 Artigo em periódico
LS Genetics

Obesity with associated developmental delay and/or learning disability in patients exibiting additional features: Report of novel pathogenic copy number variants.

American Journal of Medical Genetics. Part A

Carla S DÁNGELO; I KOHL; Monica C VARELA; Claudia De CASTRO; Chong Ae KIM et al

DOI ISSN 1552-4825
2013 Artigo em periódico
LS Genetics

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

European Journal of Human Genetics

Silva Amanda G; Ana Cristina Victorino KREPISCHI; Torrezan Giovana T; Capelli Leonardo P; Carraro Dirce M et al

DOI ISSN 1018-4813
2012 Trabalho em evento
LS Genetics

Array Genomic Hybridization in Syndromic Obesity

The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Conference

Carla S D ANGELO; Ilana KOHL; M F M Dos SANTOS; Cláudia I E De CASTRO; C A KIM et al

2012 Trabalho em evento
HS Genetics (clinical)

Array-Based Copy Number Analysis in Patients Associating Obesity and Developmental Delay/Learning Disabilities and Additional Features

American Society of Human Genetic (ASHG) Meeting

Carla Sustek D ANGELO; Ilana KOHL; Cláudia I E De CASTRO; C A KIM; Debora R BERTOLA et al

2012 Artigo em periódico
HS Genetics (clinical)

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

European Journal of Medical Genetics

Capelli Leonardo P; Krepischi Ana C V; Gurgel Giannetti JULIANA; Mendes Mirian Fabiola S; Rodrigues TATIANE et al

DOI ISSN 1769-7212
2012 Artigo em periódico
HS Endocrinology; Diabetes and Metabolism

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Clinics (USP. Impresso)

Quaio CR; Almeida TF; Albano LM; Gomy I; Bertola DR et al

DOI ISSN 1807-5932
2012 Artigo em periódico
LS Genetics

Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches

Journal of Obesity (Print)

Carla Sustek D ANGELO; Celia Priszkulnik KOIFFMANN

DOI ISSN 2090-0708
2011 Trabalho em evento
HS Genetics (clinical)

Comprehensive analysis of novel disease-causing copy number variants

12th International Congress of Human Genetics/61st ASHG Annual Meeting

Carla Sustek D ANGELO; Celia Priszkulnik KOIFFMANN

2011 Artigo em periódico
LS Ecology; Evolution; Behavior and Systematics

Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species; A. guariba

Primates

Celia Priszkulnik KOIFFMANN; Gifalli Iughetti CRISTIANI; Koiffman Celia PRISZKULNIK; Harris Eugene E

DOI ISSN 0032-8332
2010 Capítulo de livro
HS Genetics (clinical)

Cromossomopatias

Neurologia Infantil

Celia Priszkulnik KOIFFMANN; Aron DIAMENT

ISBN 9788538800989
2010 Trabalho em evento
LS Developmental Biology

Neuronal differentiation of human mesenchymal stem cells from exfoliated deciduous teeth obtained from Angelman syndrome patients

International Society for Stem Cell Research - ISSCR 8th Annual Meeting

Estela Mitie CRUVINEL; Secco M; Almeida C A N; Mayana ZATZ; Celia Priszkulnik KOIFFMANN