Associated Papers
NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation.
Diallo AD et al.
Journal, Genetic Engineering & Biotechnology, 2025
Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
An M et al.
Journal of Assisted Reproduction and Genetics, 2021
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
NR5A1 mutations are not associated with male infertility in Indian men.
Sudhakar DVS et al.
Andrologia, 2018
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
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
Tantawy S et al.
European Journal of Endocrinology, 2012
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A et al.
American Journal of Human Genetics, 2010
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