Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

(2017) Marco Bonomi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A frequent oligogenic involvement in congenital hypothyroidism

(2017) Tiziana de Filippis et al.   HUMAN MOLECULAR GENETICS

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

(2015) Jin-Ho Choi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

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

(2014) Oualid Sbai et al.   FASEB JOURNAL

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

Association of All-Cause Mortality With Overweight and Obesity Using Standard Body Mass Index Categories

(2013) Katherine M. Flegal et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function

(2012) Ana Paula Abreu et al.   MOLECULAR ENDOCRINOLOGY

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

(2012) Naresh Kumar Hanchate et al.   PLoS Genetics

A Genetic Basis for Functional Hypothalamic Amenorrhea

(2011) Lisa M. Caronia et al.   NEW ENGLAND JOURNAL OF MEDICINE

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

(2011) Eeva-Maria Laitinen et al.   Orphanet Journal of Rare Diseases

The Long-Term Clinical Follow-Up and Natural History of Men with Adult-Onset Idiopathic Hypogonadotropic Hypogonadism

(2010) Andrew A. Dwyer 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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

(2008) Carine Monnier et al.   HUMAN MOLECULAR GENETICS

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

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