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COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

BMC medical genetics, 2014-04, Vol.15 (1), p.45-45

2014

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A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica, 2007-04, Vol.96 (s455), p.63-70

2007

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Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome

BMC medical genetics, 2016-05, Vol.17 (1), p.38-38, Article 38

2016

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The phenotypic spectrum of congenital Zika syndrome

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.841-857

2017

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Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights

American journal of medical genetics. Part A, 2008-03, Vol.146A (5), p.649-657

2008

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Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

Journal of the neurological sciences, 2009-03, Vol.278 (1), p.132-134

2009

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A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies

American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1497-1501

2008

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Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

Arquivos de neuro-psiquiatria, 2006-06, Vol.64 (2A), p.303-305

2006

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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Human genetics, 2008-04, Vol.123 (3), p.237-245

2008

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Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review

American journal of medical genetics, 1997-10, Vol.72 (1), p.34-39

1997

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Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

American journal of medical genetics. Part A, 2006-07, Vol.140A (13), p.1458-1462

2006

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Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes

Arquivos de neuro-psiquiatria, 1997-06, Vol.55 (2), p.199-208, Article 199

1997

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Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae

Arquivos de neuro-psiquiatria, 1995-12, Vol.53 (4), p.799-801

1995

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Ablepharon-Macrostomia syndrome: First report of familial occurrence

American journal of medical genetics, 2000-10, Vol.94 (4), p.281-283

2000

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Raine dysplasia: a Brazilian case with a mild radiological involvement

Clinical dysmorphology, 2000-04, Vol.9 (2), p.99-101

2000

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Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies

American journal of medical genetics, 1998-04, Vol.77 (1), p.12-15

1998

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Retinal changes and tumorigenesis in Ramon syndrome: Follow-up of a Brazilian family

American journal of medical genetics, 1998-04, Vol.77 (1), p.43-46

1998

Volltextzugriff (PDF)

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

American journal of medical genetics, 1996-01, Vol.61 (2), p.131-133

1996

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Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis

American journal of medical genetics, 1986-11, Vol.25 (3), p.433-441

1986

Volltextzugriff (PDF)

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

MMWR. Morbidity and mortality weekly report, 2016-01, Vol.65 (3), p.59-62

2016

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Effect of paternal age on human sperm chromosomes

Fertility and sterility, 2001-12, Vol.76 (6), p.1119-1123

2001

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Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation

American journal of medical genetics, 2003-07, Vol.120A (2), p.247-252

2003

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Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes

Clinical dysmorphology, 2004-01, Vol.13 (1), p.1-5

2004

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Sotos syndrome (cerebral gigantism): analysis of 8 cases

Arquivos de neuro-psiquiatria, 2002-06, Vol.60 (2-A), p.234-238

2002

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A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Arquivos de neuro-psiquiatria, 2002-12, Vol.60 (4), p.1011-1014

2002

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COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

A clinical study of 77 patients with mucopolysaccharidosis type II

Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome

The phenotypic spectrum of congenital Zika syndrome

Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review

Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes

Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae

Ablepharon-Macrostomia syndrome: First report of familial occurrence

Raine dysplasia: a Brazilian case with a mild radiological involvement

Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies

Retinal changes and tumorigenesis in Ramon syndrome: Follow-up of a Brazilian family

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

Effect of paternal age on human sperm chromosomes

Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation

Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes

Sotos syndrome (cerebral gigantism): analysis of 8 cases

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

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