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Kallmann syndrome

European journal of human genetics : EJHG, 2009-02, Vol.17 (2), p.139-146

2009

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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

Nature reviews. Endocrinology, 2015-09, Vol.11 (9), p.547

2015

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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

PLoS genetics, 2012-08, Vol.8 (8), p.e1002896-e1002896

2012

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Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

Nature reviews. Endocrinology, 2012-03, Vol.8 (3), p.172

2012

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4541-4550

2016

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

PLoS genetics, 2006-10, Vol.2 (10), p.e175-e175

2006

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Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

Human molecular genetics, 2017-06, Vol.26 (11), p.2006-2017

2017

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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

American journal of human genetics, 2013-05, Vol.92 (5), p.707-724

2013

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

The Journal of clinical investigation, 2010-10, Vol.120 (10), p.3668-3672

2010

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Impaired FGF signaling contributes to cleft lip and palate

Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4512-4517

2007

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PROK2/PROKR2 Signaling and Kallmann Syndrome

Frontiers in endocrinology (Lausanne), 2013, Vol.4, p.19-19

2013

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Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutations

The FASEB journal, 2014-08, Vol.28 (8), p.3734-3744

2014

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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

BMC medical genetics, 2017-04, Vol.18 (1), p.44-44, Article 44

2017

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Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.758-763

2008

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A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

The journal of clinical endocrinology and metabolism, 2010-02, Vol.95 (2), p.659-669

2010

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Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

European journal of endocrinology, 2013-12, Vol.169 (6), p.805

2013

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The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

The journal of clinical endocrinology and metabolism, 2014-10, Vol.99 (10), p.E2138-E2143

2014

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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

Journal of the Endocrine Society, 2021-07, Vol.5 (7), p.bvab032-bvab032

2021

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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Human molecular genetics, 2009-01, Vol.18 (1), p.75-81

2009

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New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.994-1001

2015

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Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders

PloS one, 2013-07, Vol.8 (7), p.e69757-e69757

2013

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Kallmann Syndrome Caused by Mutations in the PROK2 and PROKR2 Genes: Pathophysiology and Genotype-Phenotype Correlations

Frontiers of hormone research, 2010-01, Vol.39, p.121-132

2010

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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.977-987

2013

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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

Human mutation, 2005-01, Vol.25 (1), p.98-99

2005

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Kallmann syndrome

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Impaired FGF signaling contributes to cleft lip and palate

PROK2/PROKR2 Signaling and Kallmann Syndrome

Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutations

First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders

Kallmann Syndrome Caused by Mutations in the PROK2 and PROKR2 Genes: Pathophysiology and Genotype-Phenotype Correlations

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

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