HuGE Literature Finder
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| African health sciences 2021 Sep 21 (3): 1491-1497. Kherouatou-Chaoui Naouel, Chellat-Rezgoune Djalila, Rezgoune Mohamed Larbi, Mc Elreavey Ken, Touabti Laaldja Souhem, Abadi Noreddine, Satta Dali |
| 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 |
| Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
| Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. American journal of medical genetics. Part A 2013 Oct 161A (10): 2487-94. Harrison Steven M, Campbell Ian M, Keays Melise, Granberg Candace F, Villanueva Carlos, Tannin Grace, Zinn Andrew R, Castrillon Diego H, Shaw Chad A, Stankiewicz Pawel, Baker Linda |
| 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 |
| The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012 Nov . Adamovic T, Chen Y, Thai HT, Zhang X, Markljung E, Zhao S, Nordenskjöld A |
| Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. PloS one 2012 7 (3): e32505. Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charl |
| 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 |
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