Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.R262Q
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ANOS1

NM_000216.4:p.R262Q

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL et al.

European Journal of Endocrinology, 2019

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

Stamou MI et al.

European Journal of Endocrinology, 2017

GnRH receptor mutations in isolated gonadotropic deficiency.

Chevrier L et al.

Molecular and Cellular Endocrinology, 2011

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

Genes governing premature ovarian failure.

Dixit H et al.

Reproductive Biomedicine Online, 2010

Genetic causes of human reproductive disease.

Achermann JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals.

Layman LC et al.

Fertility and Sterility, 2001

The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.

Pitteloud N et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Genetics of hypogonadotropic hypogonadism.

Seminara SB et al.

Journal of Endocrinological Investigation, 2000

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

Layman LC et al.

Nature Genetics, 1998

Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.

Kottler ML et al.

Archives of Medical Research, 0

Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.

Ulloa-Aguirre A et al.

Human Reproduction Update, 0

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