Records 1 - 6
| Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016 May .
Mazen Inas, Abdel-Hamid Mohamed, Mekkawy Mona, Bignon-Topalovic Joëlle, Boudjenah Radia, El Gammal Mona, Essawi Mona, Bashamboo Anu, McElreavey K
| Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Andrologia 2015 Aug .
Hussain S, Amar A, Najeeb M N, Khaliq
| 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
| Mutational screening of the NR5A1 in azoospermia.
Andrologia 2015 May 47 (4): 395-401.
Zare-Abdollahi D, Safari S, Mirfakhraie R, Movafagh A, Bastami M, Azimzadeh P, Salsabili N, Ebrahimizadeh W, Salami S, Omrani M
| 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
| 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