Associated Papers
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
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
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
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