| 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
|