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A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency

The journal of clinical endocrinology and metabolism, 2004-04, Vol.89 (4), p.1767-1772

2004

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Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

The journal of clinical endocrinology and metabolism, 2003-07, Vol.88 (7), p.3241-3250

2003

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Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

European journal of endocrinology, 2016-08, Vol.175 (2), p.107

2016

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Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

The journal of clinical endocrinology and metabolism, 2002-09, Vol.87 (9), p.4314-4317

2002

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Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

Clinics (São Paulo, Brazil), 2013-06, Vol.68 (6), p.785-791

2013

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Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2007-10, Vol.92 (10), p.4028-4034

2007

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The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

Clinical endocrinology (Oxford), 2008-02, Vol.68 (2), p.226-232

2008

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Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings

The journal of clinical endocrinology and metabolism, 2003-07, Vol.88 (7), p.3027-3034

2003

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Deletion Mapping of Chromosome 17 in Benign and Malignant Adrenocortical Tumors Associated with the Arg337His Mutation of the p53 Tumor Suppressor Protein

The journal of clinical endocrinology and metabolism, 2005-05, Vol.90 (5), p.2976-2981

2005

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Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

Clinical endocrinology (Oxford), 2005-02, Vol.62 (2), p.132-136

2005

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Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?

Hormone research in paediatrics, 2010-01, Vol.73 (4), p.238-243

2010

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Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth

The New England journal of medicine, 2001-10, Vol.345 (15), p.1135-1135

2001

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Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty

Clinical endocrinology (Oxford), 2003-10, Vol.59 (4), p.533-534

2003

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Nongenetic Male Pseudohermaphroditism

The New England journal of medicine, 2002-02, Vol.346 (8), p.628-629

2002

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Distribution of HLA-DQA1, LDLR, GYPA, HBGG, D7S8 and Gc Alleles in a Black Population Sample from São Paulo, Brazil

Journal of forensic sciences, 2004-11, Vol.49 (6), p.JFS2004236-2

2004

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A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome

Human mutation, 1999-10, Vol.14 (4), p.353-353

1999

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Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc

The American journal of forensic medicine and pathology, 2003-09, Vol.24 (3), p.283-287

2003

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Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample

The American journal of forensic medicine and pathology, 2002-06, Vol.23 (2), p.186-190

2002

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Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

Arquivos brasileiros de endocrinologia e metabologia, 2004-10, Vol.48 (5), p.647-650

2004

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Allele and Genotype Frequencies for D1S80 Locus in a Brazilian Population Sample

Journal of forensic sciences, 2000-05, Vol.45 (3), p.696-697

2000

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Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency

The journal of clinical endocrinology and metabolism, 1998-12, Vol.83 (12), p.4416-4419

1998

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Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth: Letter

The New England journal of medicine, 2001-10, Vol.345 (15), p.1135

2001

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A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency

The journal of clinical endocrinology and metabolism, 1999-08, Vol.84 (8), p.2870-2872

1999

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Clinical, Pathological, and Molecular Studies of Two Families with Iodide Organification Defect

Endocrine pathology, 1997, Vol.8 (1), p.37-47

1997

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Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

American journal of medical genetics, 2002-02, Vol.107 (4), p.299-305

2002

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A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency

Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings

Deletion Mapping of Chromosome 17 in Benign and Malignant Adrenocortical Tumors Associated with the Arg337His Mutation of the p53 Tumor Suppressor Protein

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?

Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty

Nongenetic Male Pseudohermaphroditism

Distribution of HLA-DQA1, LDLR, GYPA, HBGG, D7S8 and Gc Alleles in a Black Population Sample from São Paulo, Brazil

A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome

Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc

Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

Allele and Genotype Frequencies for D1S80 Locus in a Brazilian Population Sample

Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency

Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth: Letter

A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency

Clinical, Pathological, and Molecular Studies of Two Families with Iodide Organification Defect

Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

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