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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

European journal of human genetics : EJHG, 2004-12, Vol.12 (12), p.987-992

2004

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

Journal of Obesity, 2012-01, Vol.2012 (2012), p.998-1012

2012

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

Epilepsy research, 2013-07, Vol.105 (1), p.234-239

2013

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

Molecular cytogenetics, 2018-02, Vol.11 (1), p.14-14, Article 14

2018

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An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1928-1932

2007

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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, 2024-03, Vol.54 (3), p.1181-1212

2024

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Genetic investigation of syndromic forms of obesity

International Journal of Obesity, 2022-09, Vol.46 (9), p.1582-1586

2022

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Infantile autism and 47,XYY karyotype

Arquivos de neuro-psiquiatria, 2009-09, Vol.67 (3A), p.717-718

2009

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

Revista Paulista de Pediatria, 2018-09, Vol.36 (3), p.345-352

2018

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

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.479-486

2013

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

Disease markers, 2014-01, Vol.2014 (2014), p.1-8

2014

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

Revista paulista de pediatria, 2018-09, Vol.36 (3), p.345-352

2018

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PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW

Revista paulista de pediatria, 2018-07, Vol.36 (3), p.345-352

2018

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Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

Genetics and molecular biology, 2002, Vol.25 (1), p.7-12

2002

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An inherited atypical 1 Mb 22qll.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

American journal of medical genetics. Part A, 2007, Vol.143 (16), p.1928-1932

2007

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Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY

Arquivos de neuro-psiquiatria, 2009-09, Vol.67 (3a), p.717-718

2009

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Infantile autism and 47,XYY karyotype

Arquivos de neuro-psiquiatria, 2009-09, Vol.67 (3a), p.717-718

2009

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Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth

DNA and cell biology, 1993-04, Vol.12 (3), p.227-231

1993

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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

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

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

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

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

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

Genetic investigation of syndromic forms of obesity

Infantile autism and 47,XYY karyotype

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

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

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

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

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

PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW

Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

An inherited atypical 1 Mb 22qll.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY

Infantile autism and 47,XYY karyotype

Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth

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