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

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2011) Ning Xu et al.   FERTILITY AND STERILITY

A New Normalizing Algorithm for BAC CGH Arrays with Quality Control Metrics

(2011) Jeffrey C. Miecznikowski et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Expanding the Phenotype and Genotype of Female GnRH Deficiency

(2011) Natalie D. Shaw et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics

(2010) H. Bry-Gauillard et al.   ANNALES D ENDOCRINOLOGIE

Clinical genetics of Kallmann syndrome

(2010) C. Dodé et al.   ANNALES D ENDOCRINOLOGIE

Genetics defects in GNRH1: A paradigm of hypothalamic congenital gonadotropin deficiency

(2010) Jérôme Bouligand et al.   BRAIN RESEARCH

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

(2010) Frédéric Brioude et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

(2010) Anna Cariboni et al.   HUMAN MOLECULAR GENETICS

Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

(2010) Ericka B. Trarbach et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans

(2010) Jacques Young et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Loss-of-Function Mutation inGPR54/KISS1RLeads to Hypogonadotropic Hypogonadism in a Highly Consanguineous Family

(2010) Revital Nimri et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

(2010) Luis Teixeira et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

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

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

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

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

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

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