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Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Molecular syndromology, 2015-10, Vol.6 (4), p.164-172

2015

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Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry

Journal of neurology, 2024-08, Vol.271 (8), p.5433-5446

2024

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A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e637-n/a

2019

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Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil

Jornal brasileiro de pneumologia, 2017-02, Vol.43 (1), p.54-59

2017

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RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

Application of clinical genetics, 2022-10, Vol.15, p.153-170

2022

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SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

Molecular syndromology, 2023-01, Vol.13 (6), p.485-495

2023

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miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

Frontiers in genetics, 2019-11, Vol.10, p.1144-1144

2019

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Molecular analysis of holoprosencephaly in South America

Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.250-262

2014

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Cholelithiasis and biliary sludge in Downs syndrome patients

São Paulo medical journal, 2007-11, Vol.125 (6), p.329-332

2007

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Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

Molecular syndromology, 2019-11, Vol.10 (5), p.255-263

2019

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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Genetics and molecular biology, 2010-01, Vol.33 (4), p.589-604

2010

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Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Molecular syndromology, 2018-02, Vol.9 (2), p.92-99

2018

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Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.62-68

2017

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Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1055-1059

2012

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Molecular Analysis of 23 Exons of the CFTR Gene in Brazilian Patients Leads to the Finding of Rare Cystic Fibrosis Mutations

Human biology, 2005-02, Vol.77 (1), p.125-135

2005

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Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations

American journal of medical genetics, 2004-04, Vol.126A (1), p.33-40

2004

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Microdeletion and Microduplication Syndromes

The journal of histochemistry and cytochemistry, 2012-05, Vol.60 (5), p.346-358

2012

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

Scientific reports, 2024-06, Vol.14 (1), p.13436-7

2024

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Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy‐Walker malformation

Journal of clinical ultrasound, 2009-10, Vol.37 (8), p.471-474

2009

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Human mutation, 2019-11, Vol.40 (11), p.2146-2164

2019

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Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S24-S24

2015

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Epilepsy and ring chromosome 20: case report

Arquivos de neuro-psiquiatria, 2002-09, Vol.60 (3-A), p.631-635

2002

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Journal of neurology, 2020-10, Vol.267 (10), p.3038-3053

2020

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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.4-4, Article 4

2022

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Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry

A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

Molecular analysis of holoprosencephaly in South America

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

Cholelithiasis and biliary sludge in Downs syndrome patients

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Molecular Analysis of 23 Exons of the CFTR Gene in Brazilian Patients Leads to the Finding of Rare Cystic Fibrosis Mutations

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations

Microdeletion and Microduplication Syndromes

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy‐Walker malformation

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Epilepsy and ring chromosome 20: case report

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

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