Associated Papers
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
Eggers S et al.
European Journal of Human Genetics : Ejhg, 2015
Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.
Jiao X et al.
Plos One, 2013
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S et al.
Plos One, 2011
[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
Martinerie L et al.
Annales D'endocrinologie, 2009
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
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