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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

The New England journal of medicine, 2012-02, Vol.366 (7), p.629-635

2012

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MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

American journal of human genetics, 2014-12, Vol.95 (6), p.754-762

2014

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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Nature genetics, 2009-03, Vol.41 (3), p.354-358

2009

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Mutations in FEZF1 Cause Kallmann Syndrome

American journal of human genetics, 2014-09, Vol.95 (3), p.326-331

2014

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Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Genetics in medicine, 2021-06, Vol.23 (6), p.1008-1016

2021

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Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans

Human genetics, 2022-02, Vol.141 (2), p.295-304

2022

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CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

Endocrinology (Philadelphia), 2016-05, Vol.157 (5), p.1956-1966

2016

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

American journal of human genetics, 2010-12, Vol.87 (6), p.757-767

2010

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Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

The journal of clinical endocrinology and metabolism, 2009-10, Vol.94 (10), p.3633-3639

2009

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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1203542-1203542

2023

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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Clinical endocrinology (Oxford), 2015-03, Vol.82 (3), p.429-438

2015

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Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (Suppl 2), p.113-122

Topaloglu, A. Kemal

2017

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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

The journal of clinical endocrinology and metabolism, 2007-03, Vol.92 (3), p.1000-1007

2007

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Review of human genetic and clinical studies directly relevant to GnRH signalling

Journal of neuroendocrinology, 2022-05, Vol.34 (5), p.e13080-n/a

2022

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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.427-435

2010

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Genetics of Hypogonadotropic Hypogonadism

Endocrine development, 2016-01, Vol.29, p.36

2016

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Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

Clinical genetics, 2019-02, Vol.95 (2), p.320-324

2019

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CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

The journal of clinical endocrinology and metabolism, 2017-06, Vol.102 (6), p.1816-1825

2017

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Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

The journal of clinical endocrinology and metabolism, 2014-10, Vol.99 (10), p.E2067-E2075

2014

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PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism

Journal of neuroendocrinology, 2022-04, Vol.34 (4), p.e13103-n/a

2022

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Neurokinin B signalling in the human reproductive axis

Molecular and cellular endocrinology, 2011-10, Vol.346 (1), p.57-64

2011

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Neurokinin B signaling in puberty: Human and animal studies

Molecular and cellular endocrinology, 2010-08, Vol.324 (1), p.64-69

Topaloglu, A. Kemal

2010

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Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide

Hormone research in paediatrics, 2016-01, Vol.85 (2), p.107-111

2016

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A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation

Biochimica et biophysica acta, 2014-07, Vol.1844 (7), p.1248-1259

2014

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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Mutations in FEZF1 Cause Kallmann Syndrome

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs

P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

Review of human genetic and clinical studies directly relevant to GnRH signalling

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

Genetics of Hypogonadotropic Hypogonadism

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism

Neurokinin B signalling in the human reproductive axis

Neurokinin B signaling in puberty: Human and animal studies

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide

A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation

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