Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease

(2013) Margaret F. Lippincott et al.   EXPERIMENTAL PHYSIOLOGY

Identification of HESX1 mutations in Kallmann syndrome

(2013) Kayce Newbern et al.   FERTILITY AND STERILITY

Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

(2013) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

(2013) Frédéric Brioude et al.   PLoS One

Expression et localisation spatiotemporelle de KISS1 et de son récepteur KISSR dans le placenta humain normal et pathologique

(2012) H. Valdes-Socin et al.   ANNALES D ENDOCRINOLOGIE

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

(2012) Jacques Young et al.   HUMAN REPRODUCTION

Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

(2012) Sabrina Basciani et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Results ofCHD7Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

(2012) Jorieke E. H. Bergman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism

(2012) A. Kemal Topaloglu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

(2012) Eeva-Maria Laitinen et al.   PLoS One

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications

(2011) Hilana M. Lewkowitz-Shpuntoff et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

(2011) Bruno Francou et al.   PLoS One

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

(2011) J. Tornberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2010) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother

(2010) Maki Fukami et al.   Hormone Research in Paediatrics

TAC3/TACR3Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

(2010) Elena Gianetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Robert K. Semple et al.   CLINICAL ENDOCRINOLOGY

Testicular Effects of Isolated Luteinizing Hormone Deficiency and Reversal by Long-Term Human Chorionic Gonadotropin Treatment

(2009) Hernan Valdes-Socin 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

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

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

Normal Spermatogenesis in a Man with Mutant Luteinizing Hormone

(2009) Caroline Achard 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

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

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