Publications:

Autosomal single-gene disorders involved in human infertility.

Saudi Journal Of Biological Sciences

Jedidi, Ines I; Ouchari, Mouna M; Yin, Qinan Q

Publication Date: 2018-07

Variant appearance in text: NR5A1: Asp238Asn

PubMed Link: 30108436

Variant Present in the following documents:

• Main text
• main.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NR5A1: D238N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

European Journal Of Endocrinology

Tantawy, Sally S; Lin, Lin L; Akkurt, Ilker I; Borck, Guntram G; Klingmüller, Dietrich D; Hauffa, Berthold P BP; Krude, Heiko H; Biebermann, Heike H; Achermann, John C JC; Köhler, Birgit B

Publication Date: 2012-07

Variant appearance in text: NR5A1: D238N

PubMed Link: 22474171

Variant Present in the following documents:

• Main text
• EJE110944.pdf

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Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

American Journal Of Human Genetics

Bashamboo, Anu A; Ferraz-de-Souza, Bruno B; Lourenço, Diana D; Lin, Lin L; Sebire, Neil J NJ; Montjean, Debbie D; Bignon-Topalovic, Joelle J; Mandelbaum, Jacqueline J; Siffroi, Jean-Pierre JP; Christin-Maitre, Sophie S; Radhakrishna, Uppala U; Rouba, Hassan H; Ravel, Celia C; Seeler, Jacob J; Achermann, John C JC; McElreavey, Ken K

Publication Date: 2010-10-08

Variant appearance in text: NR5A1: 712G>A

PubMed Link: 20887963

Variant Present in the following documents:

• Main text

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