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Mutations of the KISS1 Gene in Disorders of Puberty

The journal of clinical endocrinology and metabolism, 2010-05, Vol.95 (5), p.2276-2280

2010

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Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Clinical endocrinology (Oxford), 2006-09, Vol.65 (3), p.294-300

2006

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Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene

Osteoporosis international, 2007-03, Vol.18 (3), p.369-374

2007

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Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and -202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

The pharmacogenomics journal, 2012-10, Vol.12 (5), p.439-445

2012

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Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes

Molecular and cellular endocrinology, 2010-07, Vol.323 (1), p.4-19

2010

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Mutations of the KISS1 Gene Associated with Central Precocious Puberty

Endocrine reviews, 2010-04, Vol.31 (2), p.255-255

2010

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Mutations of the KISS1 Gene Associated with Central Precocious Puberty

Endocrinology (Philadelphia), 2010-04, Vol.151 (4), p.1971-1971

2010

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Sleep characteristics of adolescents: A longitudinal study

Journal of adolescent health, 1993-07, Vol.14 (5), p.401-406

1993

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Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot

Archives of disease in childhood, 1999-03, Vol.80 (3), p.231-234

1999

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Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

The New England journal of medicine, 1996-02, Vol.334 (8), p.507-512

1996

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Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction1

The journal of clinical endocrinology and metabolism, 2001-06, Vol.86 (6), p.2680-2686

2001

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Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

The journal of clinical endocrinology and metabolism, 1999-03, Vol.84 (3), p.942-945

1999

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Diagnostic value of fluorometric assays in the evaluation of precocious puberty

The journal of clinical endocrinology and metabolism, 1999-10, Vol.84 (10), p.3539-3544

1999

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Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

Brazilian journal of medical and biological research, 2004-01, Vol.37 (1), p.145-150

2004

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Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1

The journal of clinical endocrinology and metabolism, 2000-08, Vol.85 (8), p.2779-2785

2000

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Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinical endocrinology (Oxford), 2000-05, Vol.52 (5), p.601-607

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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Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase (HSD3B2) Gene Can Cause Premature Pubarche in Girls

Obstetrical & gynecological survey, 2000-08, Vol.55 (8), p.493-494

2000

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A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty

The journal of clinical endocrinology and metabolism, 1998-07, Vol.83 (7), p.2435-2440

1998

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Origin of an Ovarian Steroid Cell Tumor Causing Isosexual Pseudoprecocious Puberty Demonstrated by the Expression of Adrenal Steroidogenic Enzymes and Adrenocorticotropin Receptor

The journal of clinical endocrinology and metabolism, 2000-03, Vol.85 (3), p.1211-1214

2000

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A novel mutation of the Luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

The journal of clinical endocrinology and metabolism, 1995-08, Vol.80 (8), p.2490-2494

1995

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Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state

Journal of hypertension, 1997-12, Vol.15 (12), p.1397-1402

1997

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17β-hydroxysteroid dehydrogenase 3 deficiency in women

The journal of clinical endocrinology and metabolism, 1999, Vol.84 (2), p.802-804

1999

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Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche

Journal of endocrinological investigation, 1991, Vol.14 (1), p.11-15

1991

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A clinico-genetic investigation of Leydig cell hypoplasia

American journal of medical genetics, 1987-02, Vol.26 (2), p.337-344

1987

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Mutations of the KISS1 Gene in Disorders of Puberty

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and -202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes

Mutations of the KISS1 Gene Associated with Central Precocious Puberty

Mutations of the KISS1 Gene Associated with Central Precocious Puberty

Sleep characteristics of adolescents: A longitudinal study

Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot

Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction1

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

Diagnostic value of fluorometric assays in the evaluation of precocious puberty

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase (HSD3B2) Gene Can Cause Premature Pubarche in Girls

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty

Origin of an Ovarian Steroid Cell Tumor Causing Isosexual Pseudoprecocious Puberty Demonstrated by the Expression of Adrenal Steroidogenic Enzymes and Adrenocorticotropin Receptor

A novel mutation of the Luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state

17β-hydroxysteroid dehydrogenase 3 deficiency in women

Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche

A clinico-genetic investigation of Leydig cell hypoplasia

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