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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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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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Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

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

2006

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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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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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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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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

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Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: A report of two cases and review of literature

Ophthalmic plastic and reconstructive surgery, 2002-03, Vol.18 (2), p.151-155

2002

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A citogenética do espermatozóide humano

Medicina (Sao Paulo. 197?), 1998-06, Vol.32 (2)

1998

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A citogenética do espermatozóide humano: técnica de fertilização in vitro, heteróloga, homem/hamster

Medicina (Sao Paulo. 197?), 1998-06, Vol.32 (2), p.159-166

1998

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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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Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

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

1997

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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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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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COL1A1and 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), Article 45

2014

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A constituição cromossômica de espermatozóides de oito homens brasileiros normais

Medicina (Sao Paulo. 197?), 1998-06, Vol.32 (2), p.199-202

1998

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Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone

Genetics and molecular biology, 2002, Vol.25 (3), p.265-270

2002

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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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Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008

Medicina (Sao Paulo. 197?), 2010-12, Vol.43 (4), p.419-426

2010

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Estudo genético-clínico e citogenético de crianças autistas

Medicina (Sao Paulo. 197?), 1997-12, Vol.30 (4), p.514-521

1997

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Etiologic investigations on male infertility before intracytoplasmatic sperm injection (ICSI)

Genetic counseling, 2006, Vol.17 (3), p.385

2006

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Fragile X syndrome: clinical and cytogenetic studies

Arquivos de neuro-psiquiatria, 1998-03, Vol.56 (1), p.9-17, Article 9

1998

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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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Genetic counseling follow-up - a retrospective study with a quantitative approach

Genetics and molecular biology, 1999-09, Vol.22 (3), p.295-307

1999

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GM1 gangliosidosis: clinical and laboratory findings in eight families

Human genetics, 1985-08, Vol.70 (4), p.347-354

1985

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Ablepharon-Macrostomia syndrome: First report of familial occurrence

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

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

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

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

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

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

Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: A report of two cases and review of literature

A citogenética do espermatozóide humano

A citogenética do espermatozóide humano: técnica de fertilização in vitro, heteróloga, homem/hamster

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

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

A clinical study of 77 patients with mucopolysaccharidosis type II

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

COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

A constituição cromossômica de espermatozóides de oito homens brasileiros normais

Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone

Effect of paternal age on human sperm chromosomes

Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008

Estudo genético-clínico e citogenético de crianças autistas

Etiologic investigations on male infertility before intracytoplasmatic sperm injection (ICSI)

Fragile X syndrome: clinical and cytogenetic studies

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

Genetic counseling follow-up - a retrospective study with a quantitative approach

GM1 gangliosidosis: clinical and laboratory findings in eight families

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