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Journal of Clinical Investigation, ISSN 0021-9738, 08/2008, Volume 118, Issue 8, pp. 2822 - 2831
Journal Article
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 | idiopathic hypogonadotropic hypogonadism | GPR54 | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | MISSENSE MUTATIONS | PUBERTY | digenic | GENE | BARDET-BIEDL-SYNDROME | LINKED KALLMANN-SYNDROME | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | 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 | Pathogens | Genetics | Genetic disorders | Pathogenesis | Index Medicus | Biological Sciences
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 09/2015, Volume 83, Issue 3, pp. 369 - 376
ContextPituitary stalk interruption syndrome (PSIS) is a rare cause of combined pituitary hormone deficiency characterized by a triad shown in pituitary... 
DIAGNOSIS | GH DEFICIENCY | HYPOPITUITARISM | THERAPY | ENDOCRINOLOGY & METABOLISM | ECTOPIC POSTERIOR PITUITARY | GLAND | Gonadotropins - blood | Hydrocortisone - deficiency | Pituitary Gland - metabolism | Humans | Thyroxine - blood | Hydrocortisone - urine | Male | Puberty - physiology | Pituitary Gland, Anterior - metabolism | Young Adult | Luteinizing Hormone - deficiency | Thyrotropin - deficiency | Pituitary Gland - physiopathology | Adrenocorticotropic Hormone - deficiency | Follicle Stimulating Hormone - blood | Adult | Female | Retrospective Studies | Gonadotropins - deficiency | Hydrocortisone - blood | Adrenocorticotropic Hormone - blood | Thyrotropin - blood | Severity of Illness Index | Growth Hormone - blood | Luteinizing Hormone - blood | Pituitary Gland, Anterior - diagnostic imaging | Puberty - metabolism | Triiodothyronine - deficiency | Pituitary Gland - diagnostic imaging | Pituitary Diseases - metabolism | Chi-Square Distribution | Pituitary Hormones, Anterior - deficiency | Syndrome | Growth Hormone - deficiency | Pituitary Hormones, Anterior - blood | Radiography | Triiodothyronine - blood | Magnetic Resonance Imaging | Pituitary Gland, Anterior - physiopathology | Pituitary Diseases - blood | Thyroxine - deficiency | Follicle Stimulating Hormone - deficiency | Pituitary Diseases - physiopathology | Testosterone | Somatotropin | Glycoproteins | Corticosteroids | Hormones | Thyroxine | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2413 - 2428
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 50, pp. 17953 - 17958
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2015, Volume 103, Issue 4, pp. e27 - e32
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2014, Volume 111, Issue 34, pp. 12492 - 12497
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2011, Volume 96, Issue 3, pp. E566 - E576
Journal Article