Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

CHD7mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

Inactivating Mutations of Luteinizing Hormone β-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women

(2009) Ivo Jorge Arnhold et al.   Hormone Research in Paediatrics

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2009) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lack of Androgen Receptor Expression in Sertoli Cells Accounts for the Absence of Anti-Mullerian Hormone Repression during Early Human Testis Development

(2009) Kahina Boukari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2009) Tulay Guran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2009) Julie Sarfati et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Regulation of Gonadotropin-Releasing Hormone Secretion by Kisspeptin/Dynorphin/Neurokinin B Neurons in the Arcuate Nucleus of the Mouse

(2009) V. M. Navarro et al.   JOURNAL OF NEUROSCIENCE

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

(2009) Jérôme Bouligand et al.   NEW ENGLAND JOURNAL OF MEDICINE

GNRH1mutations in patients with idiopathic hypogonadotropic hypogonadism

(2009) Yee-Ming Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: Case Report

(2008) A. A. Sinisi et al.   HUMAN REPRODUCTION

Disease-causing Mutation in GPR54 Reveals the Importance of the Second Intracellular Loop for Class A G-protein-coupled Receptor Function

(2008) Jennifer L. Wacker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

(2008) A. P. Goldstone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

(2008) Lindsay W. Cole et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular Mechanism of Action of Pharmacoperone Rescue of Misrouted GPCR Mutants: The GnRH Receptor

(2008) Jo Ann Janovick et al.   MOLECULAR ENDOCRINOLOGY

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

(2008) A Kemal Topaloglu et al.   NATURE GENETICS

Clinical Manifestations of Impaired GnRH Neuron Development and Function

(2008) Hyung-Goo Kim et al.   NEUROSIGNALS

The GnRH test in the assessment of patients with pituitary and parapituitary lesions: results of a 5-year retrospective study

(2008) N. K. Chammas et al.   Pituitary

The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

(2008) J.-P. Hardelin et al.   Sexual Development

New frontiers in kisspeptin/GPR54 physiology as fundamental gatekeepers of reproductive function

(2007) Juan Roa et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men CarryingKAL1andFGFR1/KAL2Mutations

(2007) Sylvie Salenave et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM