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Transcriptional Activation of Steroidogenic Factor-1 by Hypomethylation of the 5′ CpG Island in Endometriosis
Xue, Qing, Lin, Zhihong, Yin, Ping, Milad, Magdy P., Cheng, You-Hong, Confino, Edmond, Reierstad, Scott, Bulun, Serdar E.
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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Journal Article
Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome
Coutant, Régis, Mallet, Delphine, Lahlou, Najiba, Bouhours-Nouet, Natacha, Guichet, Agnès, Coupris, Lionel, Croué, Anne, Morel, Yves
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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Journal Article
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Aurrekoetxea, Josu, Sanchez, Mirian, Naamneh Elzenaty, Rawda, Sauter, Kay-Sara, Camats, Núria, Grau, Gema, Rica, Itxaso, Rodriguez, Amaia, Vela, Amaia, Cortazar, Alicia, Alonso-Cerezo, Maria Concepción, Bahillo, Pilar, Bertholt, Laura, Esteva, Isabel, Castaño, Luis, Flück, Christa E.
Published in PloS one (11.07.2023)
Published in PloS one (11.07.2023)
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Journal Article
Variation at the Aldosterone Synthase (CYP11B2) Locus Contributes to Hypertension in Subjects with a Raised Aldosterone-to-Renin Ratio
Lim, Pitt O., Macdonald, Thomas M., Holloway, Christine, Friel, Elaine, Anderson, Niall H., Dow, Eleanor, Jung, Roland T., Davies, Eleanor, Fraser, Robert, Connell, John M. C.
Published in The journal of clinical endocrinology and metabolism (01.09.2002)
Published in The journal of clinical endocrinology and metabolism (01.09.2002)
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Journal Article
Peroxisome Proliferator—Activated Receptor-γ Mediates Bisphenol A Inhibition of FSH-Stimulated IGF-1, Aromatase, and Estradiol in Human Granulosa Cells
Kwintkiewicz, Jakub, Nishi, Yoshihiro, Yanase, Toshihiko, Giudice, Linda C.
Published in Environmental health perspectives (01.03.2010)
Published in Environmental health perspectives (01.03.2010)
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Journal Article
Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
Araújo, Rogério S., Mendonca, Berenice B., Barbosa, Ângela S., Lin, Chin J., Marcondes, José A. M., Billerbeck, Ana Elisa C., Bachega, Tânia A. S. S.
Published in The journal of clinical endocrinology and metabolism (01.10.2007)
Published in The journal of clinical endocrinology and metabolism (01.10.2007)
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Journal Article
Aldosterone Excretion Rate and Blood Pressure in Essential Hypertension Are Related to Polymorphic Differences in the Aldosterone Synthase Gene CYP11B2
Davies, Eleanor, Holloway, Christine D., Ingram, Mary C., Inglis, Gordon C., Friel, Elaine C., Morrison, Caroline, Anderson, Niall H., Fraser, Robert, Connell, John
Published in Hypertension (Dallas, Tex. 1979) (01.02.1999)
Published in Hypertension (Dallas, Tex. 1979) (01.02.1999)
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Journal Article
Minireview: Transcriptional Regulation of Adrenocortical Development
Hammer, Gary D., Parker, Keith L., Schimmer, Bernard P.
Published in Endocrinology (Philadelphia) (01.03.2005)
Published in Endocrinology (Philadelphia) (01.03.2005)
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Journal Article
Association of Lys173Arg Polymorphism with CYP11B2 Expression in Normal Adrenal Glands and Aldosterone-Producing Adenomas
Tanahashi, Hiromichi, Mune, Tomoatsu, Takahashi, Yoshito, Isaji, Mako, Suwa, Tetsuya, Morita, Hiroyuki, Yamakita, Noriyoshi, Yasuda, Keigo, Deguchi, Takashi, White, Perrin C., Takeda, Jun
Published in The journal of clinical endocrinology and metabolism (01.11.2005)
Published in The journal of clinical endocrinology and metabolism (01.11.2005)
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Journal Article
A Biallelic Gene Polymorphism of CYP11B2 Predicts Increased Aldosterone to Renin Ratio in Selected Hypertensive Patients
Nicod, Jérôme, Bruhin, David, Auer, Lucas, Vogt, Bruno, Frey, Felix J., Ferrari, Paolo
Published in The journal of clinical endocrinology and metabolism (01.06.2003)
Published in The journal of clinical endocrinology and metabolism (01.06.2003)
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Journal Article
α-Adducin and Angiotensin I–Converting Enzyme Polymorphisms in Essential Hypertension
Clark, Catherine J., Davies, Eleanor, Anderson, Niall H., Farmer, Rosemary, Friel, Elaine C., Fraser, Robert, Connell, John M. C.
Published in Hypertension (Dallas, Tex. 1979) (01.12.2000)
Published in Hypertension (Dallas, Tex. 1979) (01.12.2000)
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Journal Article
An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects
Davies, Eleanor, Holloway, Christine D., Ingram, Mary C., Friel, Elaine C., Inglis, Gordon C., Swan, Lorna, Hillis, W. Stewart, Fraser, Robert, Connell, John M. C.
Published in Clinical endocrinology (Oxford) (01.06.2001)
Published in Clinical endocrinology (Oxford) (01.06.2001)
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Journal Article
Identification of a Novel Missense Mutation That Is as Damaging to DAX-1 Repressor Function as a Nonsense Mutation
Brown, Pamela, Scobie, Graeme A., Townsend, Julie, Bayne, Rosemary A. L., Seckl, Jonathan R., Saunders, Philippa T. K., Anderson, Richard A.
Published in The journal of clinical endocrinology and metabolism (01.03.2003)
Published in The journal of clinical endocrinology and metabolism (01.03.2003)
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Journal Article
Polymorphism of the aldosterone synthase gene is not associated with progression of diabetic nephropathy, but associated with hypertension in type 2 diabetic patients
KO, GANG JEE, KANG, YOUNG SUN, LEE, MI HWA, SONG, HYE KYOUNG, KIM, HYOUNG KYU, CHA, DAE RYONG
Published in Nephrology (Carlton, Vic.) (01.09.2008)
Published in Nephrology (Carlton, Vic.) (01.09.2008)
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Journal Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
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Journal Article
Peroxisome proliferator-activated receptor-[gamma] mediates bisphenol A inhibition of FSH-stimulated IGF-1, aromatase, and estradiol in human granulosa cells
Kwintkiewicz, Jakub, Nishi, Yoshihiro, Yanase, Toshihiko, Giudice, Linda C
Published in Environmental health perspectives (01.03.2010)
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Published in Environmental health perspectives (01.03.2010)
Journal Article
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
Alhamoudi, Kheloud M., Alghamdi, Balgees, Aljomaiah, Abeer, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali S.
Published in Frontiers in genetics (05.07.2022)
Published in Frontiers in genetics (05.07.2022)
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Journal Article