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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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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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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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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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Genetics of Hypogonadotropic Hypogonadism

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

2016

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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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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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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Journal of clinical research in pediatric endocrinology, 2012-09, Vol.4 (3), p.121-126

2012

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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

Obstetrical & gynecological survey, 2012-06, Vol.67 (6), p.352-353

2012

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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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Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature

Pediatric diabetes, 2010-06, Vol.11 (4), p.279-285

2010

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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS 1R gene in three unrelated families

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

2015

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Human Genetics of GnRH Neuron Function

The GnRH Neuron and its Control, 2018, p.443-467

2018

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Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.17

2016

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Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (1)

2016

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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders

The journal of clinical endocrinology and metabolism, 2024-09

2024

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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

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

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

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

Genetics of Hypogonadotropic Hypogonadism

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

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

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

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

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS 1R gene in three unrelated families

Human Genetics of GnRH Neuron Function

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders

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