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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | CONTRIBUTE | idiopathic hypogonadotropic hypogonadism | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | digenic | PROKINETICIN-2 | GENE | LINKED KALLMANN-SYNDROME | MUTATIONS | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | DELETIONS | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Biological Sciences
Journal Article
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 07/2017, Volume 102, Issue 7, pp. 2291 - 2300
Context: The effectiveness of pulsatile gonadotropin-releasing hormone (GnRH) therapy in patients with congenital combined pituitary hormone deficiency (CCPHD)... 
STEM-CELLS | GONADOTROPIN-RELEASING-HORMONE | MUTATION | MEN | ENDOCRINOLOGY & METABOLISM | BOYS | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | INDUCTION | STALK INTERRUPTION SYNDROME | PUBERTY | LUTEINIZING-HORMONE | Hypopituitarism - physiopathology | Prospective Studies | Drug Administration Schedule | Luteinizing Hormone - blood | Hypopituitarism - blood | Humans | Gonadotropin-Releasing Hormone - administration & dosage | Male | Pituitary Gland - diagnostic imaging | Hypopituitarism - diagnostic imaging | Hypothalamus - physiopathology | Infusions, Subcutaneous | Young Adult | Magnetic Resonance Imaging | Testis - pathology | Pituitary Gland - physiopathology | Follicle Stimulating Hormone - blood | Adult | Hormone Replacement Therapy - methods | Gonadotropin-Releasing Hormone - therapeutic use | Testis - physiopathology | Testosterone - blood | Hypopituitarism - drug therapy | Hypoplasia | Therapy | Follicle-stimulating hormone | Dysplasia | Nuclear magnetic resonance--NMR | Pituitary hormones | Spermatogenesis | Recovery of function | Pituitary (anterior) | Gonadotropins | Hypothalamus | Patients | Hypogonadism | Testosterone | Androgens | Magnetic resonance imaging | Pituitary | Men | Functional magnetic resonance imaging | Luteinizing hormone | Combined pituitary hormone deficiency | Gonadotropin-releasing hormone
Journal Article
Journal Article
Science, ISSN 0036-8075, 8/1996, Volume 273, Issue 5279, pp. 1219 - 1221
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2008, Volume 118, Issue 8, pp. 2822 - 2831
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2413 - 2428
Journal Article
Endocrine Journal, ISSN 0918-8959, 2013, Volume 60, Issue 8, pp. 1013 - 1020
Combined pituitary hormone deficiency (CPHD), isolated hypogonadotropic hypogonadism (IHH), Kallmann syndrome (KS), and septo-optic dysplasia (SOD) are... 
Anterior pituitary | Copy-number | Gonadotropin | Mutation | Gene deletion | FGF | ANTERIOR-PITUITARY | GONADOTROPIN-RELEASING-HORMONE | ENDOCRINOLOGY & METABOLISM | KALLMANN-SYNDROME | MUTATIONS | Sequence Deletion | Humans | Child, Preschool | Infant | Male | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Gene Deletion | Adolescent | Adult | Female | Hypopituitarism - genetics | Child
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 06/2010, Volume 162, Issue 6, pp. 1021 - 1025
Objective and design: A homozygous loss-of-function mutation in the gene RBM28 was recently reported to underlie alopecia, neurological defects, and... 
HYPOPITUITARISM | PROTEIN | HAIR | GONADOTROPIN-RELEASING-HORMONE | ENDOCRINOLOGY & METABOLISM | MUTATIONS | BETA-CATENIN | WNT | EXPRESSION | RNA-Binding Proteins - genetics | Alopecia - genetics | Humans | Adult | Male | Endocrine System Diseases - genetics | Hypopituitarism - genetics | Mutation - genetics | Nervous System Diseases - genetics | Syndrome | Siblings
Journal Article