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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 4, 2024. (Total: 234028Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Adrenal Insufficiency and NR5A1[original query]
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2009 Aug 161 (2): 237-42.
Köhler Birgit, Lin Lin, Mazen Inas, Cetindag Cigdem, Biebermann Heike, Akkurt Ilker, Rossi Rainer, Hiort Olaf, Grüters Annette, Achermann John
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).
Fertility and sterility 2012 Jan 97 (1): 141-6.e2.
Janse Femi, de With Larissa M, Duran Karen J, Kloosterman Wigard P, Goverde Angelique J, Lambalk Cornelius B, Laven Joop S E, Fauser Bart C J M, Giltay Jacques C,
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.
The Journal of clinical endocrinology and metabolism 2011 1 96 (4): E663-8.
Ferraz-de-Souza Bruno, Hudson-Davies Rebecca E, Lin Lin, Parnaik Rahul, Hubank Mike, Dattani Mehul T, Achermann John
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.
Genetics and molecular research : GMR 2012 11 (4): 4575-84.
Hu S C, Ye J, Fathi A K, Fu X, Huang S, Ning Q, Luo X
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
European journal of human genetics : EJHG 2013 Sep 21 (9): 1012-5.
Röpke Albrecht, Tewes Ann-Christin, Gromoll Jörg, Kliesch Sabine, Wieacker Peter, Tüttelmann Fra
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Hormone research in pædiatrics 2015 84 (2): 116-23.
Woo Kyu Ha, Cheon Buwon, Kim Ja Hye, Cho Jahyang, Kim Gu-Hwan, Yoo Han-Wook, Choi Jin-
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
Fertility and sterility 2015 Jul 104 (1): 163-9.e1.
Ferlin Alberto, Rocca Maria Santa, Vinanzi Cinzia, Ghezzi Marco, Di Nisio Andrea, Foresta Car
A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.
Andrologia 2016 May .
Tuhan H, Anik A, Catli G, Onay H, Aykut A, Abaci A, Bober
NR5A1 mutations are not associated with male infertility in Indian men.
Andrologia 2017 12 50 (3): .
Sudhakar D V S, Nizamuddin S, Manisha G, Devi J R, Gupta N J, Chakravarthy B N, Deenadayal M, Singh L, Thangaraj
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