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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

著者

Peter Nürnberg

Gudrun Nürnberg

Danielle Naville

John C. Achermann

Nils Krone

Wiebke Arlt

Jeremy W Tomlinson

この作品が含まれる作品: The Journal of Clinical Endocrinology and Metabolism

出版日: 2009-10

言語: 英語

main subject: 臨床化学, 糖質コルチコイド, 先天性疾患, 先天性副腎過形成症, リポイド過形成症

Cites articles 23

Date

タイトル

著者

2008-01-01

Adrenocorticotropin resistance syndromes

Helen L Storr, Adrian J. L. Clark
2008-04-22

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

Adrian J. L. Clark
2007-01-02

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

Pascal Philibert, Bruno Ferraz-de-Souza, Neil J. Sebire, J. Larry Jameson, John C. Achermann, Gerard S Conway, Ieuan Hughes, Mehul T Dattani, Daniel Kelberman
2006-12

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

John C. Achermann
2006-05-09

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

John C. Achermann
2005-02

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Franz Rüschendorf, Peter Nürnberg, Danielle Naville, Michael E. Cheetham, Christian Becker
2005-08-23

Phenotypic features associated with mutations in steroidogenic acute regulatory protein

J. Larry Jameson
2005-06-28

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

John C. Achermann
2004-11-16

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings
2004-08-01

Molecular genetic analysis of congenital lipoid adrenal hyperplasia
2003-06-01

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita
2002-05-01

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein
2002-08-24

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

Emmanuelle Génin, Danielle Naville, Adrian J. L. Clark
1999-04-01

Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR.
1999-05-01

Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia
1997-05-01

Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein
1997-03-01

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene
1997-07-01

A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
1997-01-01

Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study

緒方勤
1997-04-01

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
1995-12-01

Mitochondrial specificity of the early steps in steroidogenesis
1993-11

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

Georgios P. Chrousos
1993-02-20

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

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