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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2005, Volume 102, Issue 6, pp. 2129 - 2134
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 2853 - 2854
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
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 725 - 743
Journal Article
Endocrinology, ISSN 0013-7227, 10/2017, Volume 158, Issue 10, pp. 3269 - 3280
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2009, Volume 106, Issue 28, pp. 11703 - 11708
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2011, Volume 108, Issue 28, pp. 11524 - 11529
Neuronal development is the result of a multitude of neural migrations, which require extensive cell-cell communication. These processes are modulated by... 
Enzymes | Phenotypes | Neurons | Medical genetics | Ligands | Sulfates | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Heparan sulfotransferase | SPECIFICITY | GONADOTROPIN-RELEASING-HORMONE | MULTIDISCIPLINARY SCIENCES | DEFICIENCY | FGF RECEPTOR | FAMILY | heparan sulfotransferase | CAENORHABDITIS-ELEGANS | KALLMANN-SYNDROME | MUTATIONS | EXPRESSION | HEPARAN-SULFATE 6-O-SULFOTRANSFERASE | Species Specificity | Humans | Middle Aged | Genes, Helminth | Receptor, Fibroblast Growth Factor, Type 1 - metabolism | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | Kallmann Syndrome - enzymology | Male | Mutation, Missense | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Sulfotransferases - deficiency | Intercellular Signaling Peptides and Proteins - metabolism | Receptors, Fibroblast Growth Factor - genetics | Adult | Female | Sulfotransferases - metabolism | Child | Extracellular Matrix Proteins - metabolism | Sulfotransferases - genetics | Amino Acid Sequence | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Intercellular Signaling Peptides and Proteins - genetics | Models, Molecular | Nerve Tissue Proteins - genetics | Hypogonadism - enzymology | Hypogonadism - genetics | Nerve Tissue Proteins - metabolism | Sequence Homology, Amino Acid | Animals | Pedigree | Receptors, Fibroblast Growth Factor - metabolism | Mutation | In Vitro Techniques | Caenorhabditis elegans Proteins - genetics | Sulfotransferases - chemistry | Amino Acid Substitution | Index Medicus | Heparan sulfate | Fibroblast growth factor | Puberty | Intercellular signalling | Polysaccharides | Hedgehog protein | Infertility | Extracellular matrix | Gonadotropin-releasing hormone | Cell migration | Sugar | Biological Sciences
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2003, Volume 349, Issue 17, pp. 1614 - 1627
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2005, Volume 90, Issue 12, pp. 6738 - 6740
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2011, Volume 364, Issue 3, pp. 215 - 225
The authors hypothesized that mutations in genes involved in idiopathic hypogonadotropic hypogonadism would be associated with functional hypothalamic... 
WOMEN | MEDICINE, GENERAL & INTERNAL | GONADOTROPIN-RELEASING-HORMONE | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | RECEPTOR | KALLMANN-SYNDROME | EATING-DISORDERS | MUTATIONS | WEIGHT | DEFICIENCY | LUTEINIZING-HORMONE | Gene Expression |