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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 | 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 New England Journal of Medicine, ISSN 0028-4793, 01/2011, Volume 364, Issue 3, pp. 215 - 225
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 725 - 743
Journal Article
by Lunetta, Kathryn and Day, Felix and Sulem, Patrick and Ruth, Katherine S and Tung, Joyce Y and Hinds, David A and Esko, Tõnu and Elks, Cathy and Altmaier, Elizabeth and He, Chunyan and Huffman, Jennifer and Mihailov, Evelin and Porcu, Eleonora and Robino, Antonietta and Rose, Lynda and Schick, Ursula and Stolk, Lisette and Teumer, Alexander and Thompson, Deborah and Traglia, Michela and Wang, Carol A and Yerges-Armstrong, Laura and Antoniou, Antonis C and Barbieri, Caterina and Coviello, Anea and Cucca, Francesco and Demerath, Ellen and Dunning, Alison and Gandin, Ilaria and Grove, Megan L and Gudbjartsson, Daniel and Hocking, Lynne and Hofman, Albert and Huang, Jian and Jackson, Rebecca and Karasik, David and Kriebel, Jennifer and Lange, Ethan and Lange, Leslie and Langenberg, Claudia and Li, Xin and Luan, J and Mägi, Reedik and Morrison, Alanna and Padmanabhan, Sandosh and Pirie, Ailith and Polasek, Ozren and Porteous, David J and Reiner, Alexander and Rivadeneira Ramirez, Fernando and Rudan, Igor and Sala, Cinzia and Schlessinger, David and Scott, Robert and Stöckl, Doris and Visser, Jenny and Völker, Uwe and Vozzi, Diego and Wilson, James and Zygmunt, Marek and Boerwinkle, Eric and Buring, Julie and Crisponi, Laura and Easton, Douglas and Hayward, Caroline and Hu, Frank and Liu, Simin and Metspalu, Anes and Pennell, Craig and Ridker, Paul and Strauch, Konstantin and Streeten, Elizabeth and Toniolo, Daniela and Uitterlinden, Ané and Ulivi, Shelia and Völzke, Henry and Wareham, Nick and Wellons, Melissa and Franceschini, Nora and Chasman, Daniel and Thorsteinsdottir, Unnur and Murray, Anna and Zwart, John-Anker and Murabito, Joanne and Ong, Ken and Perry, John and Forouhi, Nita G and Kerrison, Nicola D and Sharp, Stephen J and Sims, Matthew and Barroso, Inês and Deloukas, Panagiotis and McCarthy, Mark and Arriola, Larraitz and Balkau, Beverley and Barricarte, Aurelio and Boeing, Heiner and Franks, P.W and Gonzalez, Carlos and Grioni, Sara and ... and Generation Scotland and EPIC-InterAct Consortium and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Allmänmedicin and Umeå universitet and Medicin
Nature Communications, ISSN 2041-1723, 08/2015, Volume 6, Issue 1, pp. 7756 - 7756
textabstractMore than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼ 3% of... 
METAANALYSIS | LAMB2 | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | MUTATIONS | IDENTIFICATION | CANCER | GENOME-WIDE ASSOCIATION | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2010, Volume 87, Issue 4, pp. 465 - 479
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2014, Volume 166, Issue 3, pp. 257 - 261
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 2, pp. 345 - 352
Journal Article