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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

The journal of clinical endocrinology and metabolism, 2005-03, Vol.90 (3), p.1849-1855

2005

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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Nature genetics, 1999-06, Vol.22 (2), p.125-126

1999

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Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development

Sexual development, 2008-01, Vol.2 (4-5), p.200-209

2008

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X-Linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females

The journal of clinical endocrinology and metabolism, 1999-12, Vol.84 (12), p.4501-4509

1999

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Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

The journal of clinical endocrinology and metabolism, 2001-07, Vol.86 (7), p.3171-3175

2001

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A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency

The journal of clinical endocrinology and metabolism, 2006-06, Vol.91 (6), p.2428-2431

2006

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Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.504-511

1999

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Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

The journal of clinical endocrinology and metabolism, 1999-12, Vol.84 (12), p.4497-4500

1999

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New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

Sexual Development, 2010-09, Vol.4 (4-5), p.213-224

2010

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Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

Human reproduction (Oxford), 2011-03, Vol.26 (3), p.724-728

2011

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Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies

Journal of pediatric urology, 2013-04, Vol.9 (2), p.139-144

2013

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The role of SF1/DAX1 in adrenal and reproductive function

Annales d'endocrinologie, 2005-06, Vol.66 (3), p.233-239

Achermann, J.C.

2005

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Dehydroepiandrosterone replacement for patients with adrenal insufficiency

The Lancet (British edition), 2001-05, Vol.357 (9266), p.1381-1382

2001

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Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

The journal of clinical endocrinology and metabolism, 2002-04, Vol.87 (4), p.1829-1833

2002

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Phenotypic spectrum of mutations in DAX-1 and SF-1

Molecular and cellular endocrinology, 2001-12, Vol.185 (1), p.17-25

2001

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Persistent unexplained congenital clitoromegaly in females born extremely prematurely

Journal of pediatric urology, 2013-12, Vol.9 (6), p.962-965

2013

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Aromatase (Cyp19) Expression is up-Regulated by Targeted Disruption of Dax1

Proceedings of the National Academy of Sciences - PNAS, 2001-07, Vol.98 (14), p.7988-7993

2001

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Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita

Journal of medical genetics, 2008-09, Vol.45 (9), p.e1-e1

2008

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The GH response to low-dose bolus growth hormone-releasing hormone (GHRH(1-29)NH2) is attenuated in patients with longstanding post-irradiation GH insufficiency

European journal of endocrinology, 2000-04, Vol.142 (4), p.359-364

2000

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Human disorders caused by nuclear receptor gene mutations

Pure and applied chemistry, 2003-01, Vol.75 (11), p.1785-1796

2003

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Variable presentation of X-linked adrenal hypoplasia congenita

Journal of Pediatric Endocrinology and Metabolism, 2001-09, Vol.14 (8), p.1093-1096

2001

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Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children

Pediatrics (Evanston), 1998-08, Vol.102 (2 Pt 1), p.342-345

1998

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Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children

Clinical endocrinology (Oxford), 1999-03, Vol.50 (3), p.301-308

1999

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Advances in the molecular genetics of hypogonadotropic hypogonadism

Journal of pediatric endocrinology & metabolism : JPEM, 2001-01, Vol.14 (1), p.3

2001

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The Role of DAX-1 in Reproduction

Trends in endocrinology and metabolism, 1998-07, Vol.9 (5), p.169-175

1998

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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development

X-Linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies

The role of SF1/DAX1 in adrenal and reproductive function

Dehydroepiandrosterone replacement for patients with adrenal insufficiency

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

Phenotypic spectrum of mutations in DAX-1 and SF-1

Persistent unexplained congenital clitoromegaly in females born extremely prematurely

Aromatase (Cyp19) Expression is up-Regulated by Targeted Disruption of Dax1

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita

The GH response to low-dose bolus growth hormone-releasing hormone (GHRH(1-29)NH2) is attenuated in patients with longstanding post-irradiation GH insufficiency

Human disorders caused by nuclear receptor gene mutations

Variable presentation of X-linked adrenal hypoplasia congenita

Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children

Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children

Advances in the molecular genetics of hypogonadotropic hypogonadism

The Role of DAX-1 in Reproduction

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