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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Journal of human genetics, 2019-10, Vol.64 (10), p.967-978

2019

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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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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Genetics and molecular biology, 2018-01, Vol.41 (1), p.85-91

2018

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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100572-100572, Article 100572

2020

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2479-2483

2011

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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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The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion

European journal of medical genetics, 2024-10, Vol.71, p.104966, Article 104966

2024

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The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1545-1549

2022

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Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.896-911

2020

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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Cytogenetic and genome research, 2019-01, Vol.157 (3), p.153-157

2019

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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Molecular syndromology, 2016-04, Vol.7 (1), p.12-18

2016

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Nephrogenic Diabetes Insipidus (NDI): Clinical, Laboratory and Genetic Characterization of Five Brazilian Patients

Clinics (São Paulo, Brazil), 2009-05, Vol.64 (5), p.409-414

2009

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Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

Cytogenetic and genome research, 2016-01, Vol.149 (4), p.241-246

2016

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The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome

The Journal of urology, 2012-07, Vol.188 (1), p.253-257

2012

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Ring chromosome 10: report on two patients and review of the literature

Journal of applied genetics, 2013-02, Vol.54 (1), p.35-41

2013

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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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Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Molecular cytogenetics, 2015-06, Vol.8 (1), p.43-43, Article 43

2015

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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

Genomics (San Diego, Calif.), 2022-09, Vol.114 (5), p.110468-110468, Article 110468

2022

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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Human mutation, 2021-01, Vol.42 (1), p.50-65

2021

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Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities

Clinical dysmorphology, 2009-07, Vol.18 (3), p.142

2009

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Spondylocostal dysostosis associated with methylmalonic aciduria

Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.181

2009

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Microduplication of the ICR2 Domain at Chromosome 11p15 and Familiar Silver―Russell Syndrome

American journal of medical genetics. Part A, 2011, Vol.155 (10), p.2479-2483

2011

Volltextzugriff (PDF)

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

American journal of medical genetics. Part A, 2022, Vol.188 (5), p.1545-1549

2022

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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

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

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

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

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Nephrogenic Diabetes Insipidus (NDI): Clinical, Laboratory and Genetic Characterization of Five Brazilian Patients

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome

Ring chromosome 10: report on two patients and review of the literature

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities

Spondylocostal dysostosis associated with methylmalonic aciduria

Microduplication of the ICR2 Domain at Chromosome 11p15 and Familiar Silver―Russell Syndrome

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

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