Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Psychosexual Development in Men with Congenital Hypogonadotropic Hypogonadism on Long-Term Treatment: A Mixed Methods Study

(2015) Andrew A. Dwyer et al.   Sexual Medicine

Mutations in FEZF1 Cause Kallmann Syndrome

(2014) L. Damla Kotan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support

(2014) Andrew A Dwyer et al.   Orphanet Journal of Rare Diseases

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

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

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computed Tomography of the Anterior Skull Base in Kallmann Syndrome Reveals Specific Ethmoid Bone Abnormalities Associated With Olfactory Bulb Defects

(2013) Luigi Maione et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Genetic Testing for Kallmann Syndrome

(2013) Lawrence C. Layman   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)

(2012) Vasiliki Koika et al.   GENE

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

Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism

(2012) Jacques Young   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Intracycle variation in number of antral follicles stratified by size and in endocrine markers of ovarian reserve in women with normal ovulatory menstrual cycles

(2012) S. Deb et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Kallmann syndrome

(2012) N. Smith et al.   BMJ-British Medical Journal

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

(2012) Naresh Kumar Hanchate et al.   PLoS Genetics

Expanding the Phenotype and Genotype of Female GnRH Deficiency

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

Genetic counseling for isolated GnRH deficiency

(2011) Margaret G. Au et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

(2011) Claire Bouvattier et al.   Nature Reviews Endocrinology

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

Clues to an early diagnosis of Kallmann syndrome

(2010) Julie D. Kaplan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Unilateral renal aplasia in X-linked Kallmann's syndrome

(2010) J. M. W. Kirk et al.   CLINICAL GENETICS

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

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

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

(2010) ISABELLE BAILLEUL-FORESTIER et al.   International Journal of Paediatric Dentistry

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

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

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

Effects of an Early Postnatal Treatment of Hypogonadotropic Hypogonadism with a Continuous Subcutaneous Infusion of Recombinant Follicle-Stimulating Hormone and Luteinizing Hormone

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

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

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

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

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