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Discordant phenotypes in first cousins with UBE3A frameshift mutation

American journal of medical genetics, 2004-06, Vol.127A (3), p.258-262

2004

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Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

Clinical genetics, 2003-08, Vol.64 (2), p.172-175

2003

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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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DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells

Brazilian journal of medical and biological research, 2004-05, Vol.37 (5), p.635-642

2004

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Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men

Brazilian journal of medical and biological research, 2006-04, Vol.39 (4), p.555-561

2006

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Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype

Brazilian journal of medical and biological research, 2008-08, Vol.41 (8), p.681-683

2008

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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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Dejerine–Sottas’ neuropathy caused by the missense mutation PMP22 Ser72Leu

Acta neurologica Scandinavica, 2004-09, Vol.110 (3), p.196-199

2004

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Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant

Clinical dysmorphology, 2003-04, Vol.12 (2), p.143-144

2003

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Clinical, cytogenetical and molecular analyses of Angelman syndrome

Genetic counseling, 2003, Vol.14 (1), p.45

2003

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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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De novo complex chromosome rearrangement: a study of two patients

Genetic counseling, 2004, Vol.15 (3), p.303

2004

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De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21

Genetic counseling, 2001, Vol.12 (1), p.69

2001

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Thalidomide, a current teratogen in South America

Teratology (Philadelphia), 1996-12, Vol.54 (6), p.273-277

1996

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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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Syndrome of psychomotor retardation, bulbous nose, and epilepsy (Hernandez syndrome): a Brazilian case

Clinical dysmorphology, 1999-10, Vol.8 (4), p.301-304

1999

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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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Case report. Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Genetics and molecular research, 2014-06, Vol.13 (2), p.4302-4310

2014

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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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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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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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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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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 viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism

Genetics and molecular biology, 1998-09, Vol.21 (3), p.307-310

1998

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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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Discordant phenotypes in first cousins with UBE3A frameshift mutation

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

Effect of paternal age on human sperm chromosomes

DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men

Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype

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

Dejerine–Sottas’ neuropathy caused by the missense mutation PMP22 Ser72Leu

Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant

Clinical, cytogenetical and molecular analyses of Angelman syndrome

Raine dysplasia: a Brazilian case with a mild radiological involvement

De novo complex chromosome rearrangement: a study of two patients

De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21

Thalidomide, a current teratogen in South America

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

Syndrome of psychomotor retardation, bulbous nose, and epilepsy (Hernandez syndrome): a Brazilian case

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

Case report. Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

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

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

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

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

Fragile X syndrome: clinical and cytogenetic studies

A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism

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

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