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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Scientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184

2022

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A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

Arthritis & rheumatology (Hoboken, N.J.), 2011-12, Vol.63 (12), p.4007-4017

2011

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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Bone (New York, N.Y.), 2019-04, Vol.121, p.163-171

2019

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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.115-123

2020

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Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Hormone research in paediatrics, 2018-01, Vol.89 (1), p.13-21

2018

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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261

2019

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Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

European journal of endocrinology, 2014-08, Vol.171 (2), p.253-262

2014

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Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

The journal of clinical endocrinology and metabolism, 2008-04, Vol.93 (4), p.1129-1134

2008

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IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.604-614

2018

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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Research in autism spectrum disorders, 2016-03, Vol.23, p.145-151

2016

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Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

Hormone research in paediatrics, 2022-05, Vol.95 (1), p.51-61

2022

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Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

BMC research notes, 2012-01, Vol.5 (1), p.13-13, Article 13

2012

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Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

Molecular neurobiology, 2023-07, Vol.60 (7), p.3758-3769

2023

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5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.725-731

2011

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Cockayne syndrome type A: novel mutations in eight typical patients

Journal of human genetics, 2006-08, Vol.51 (8), p.701-705

2006

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A new insight into CFTR allele frequency in Brazil through next generation sequencing

Pediatric pulmonology, 2017-10, Vol.52 (10), p.1300-1305

2017

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Targeted massively parallel sequencing for congenital generalized lipodystrophy

Archives of Endocrinology and Metabolism, 2020-09

2020

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Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Archives of Endocrinology and Metabolism, 2016-10, Vol.60 (5), p.500-504

2016

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Targeted massively parallel sequencing for congenital generalized lipodystrophy

Archives of Endocrinology and Metabolism, 2021-05, Vol.64 (5), p.559-566

2021

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Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

International journal of pediatric otorhinolaryngology, 2014-12, Vol.78 (12), p.2314-2315

2014

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An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1912-1918

2007

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OMODYSPLASIA: THE FIRST REPORTED BRAZILIAN CASE

Clinics (São Paulo, Brazil), 2007-08, Vol.62 (4), p.531-534

2007

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Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1

Molecular syndromology, 2019-02, Vol.10 (1-2), p.40-47

2019

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Back Cover, Volume 43, Issue 7

Human mutation, 2022-07, Vol.43 (7), p.ii-ii

2022

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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

Cockayne syndrome type A: novel mutations in eight typical patients

A new insight into CFTR allele frequency in Brazil through next generation sequencing

Targeted massively parallel sequencing for congenital generalized lipodystrophy

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Targeted massively parallel sequencing for congenital generalized lipodystrophy

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

OMODYSPLASIA: THE FIRST REPORTED BRAZILIAN CASE

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1

Back Cover, Volume 43, Issue 7

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