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Clinical Genetics, ISSN 0009-9163, 11/2019, Volume 96, Issue 5, pp. 473 - 477
Chronic Intestinal Pseudo‐Obstruction (CIPO) is a rare gastrointestinal disorder, which affects the smooth muscle contractions of the gastrointestinal tract.... 
MYH11 | Chronic Intestinal Pseudo‐Obstruction | genetics | exome‐sequencing | Genes | Smooth muscle | Gastrointestinal tract | Muscle contraction | Genetic counseling | Intestine | Etiology | Actin | Genetic analysis | Myosin | Mutation | Genetic counselling | Linkage analysis
Journal Article
by Locke, A.E and Kahali, B and Berndt, S.I and Justice, A.E and Pers, T.H and Day, F.R and Powell, C and Vedantam, S and Buchkovich, M.L and Yang, J and Croteau-Chonka, D.C and Esko, T and Fall, T and Ferreira, T and Gustafsson, S and Kutalik, Z and Luan, J and Magi, R and Randall, J.C and Winkler, T.W and Wood, A.R and Workalemahu, T and Faul, J.D and Smith, J.A and Zhao, J and Zhao, W and Chen, J and Fehrmann, R and Hedman, A.K and Karjalainen, J and Schmidt, E.M and Absher, D and Amin, N and Anderson, D and Beekman, M and Bolton, J.L and Bragg-Gresham, J.L and Buyske, S and Demirkan, A and Deng, G and Ehret, G.B and Feenstra, B and Feitosa, M.F and Fischer, K and Goel, A and Gong, J and Jackson, A.U and Kanoni, S and Kleber, M.E and Kristiansson, K and Lim, U and Lotay, V and Mangino, M and Leach, I. Mateo and Medina-Gomez, C and Medland, S.E and Nalls, M.A and Palmer, C.D and Pasko, D and Pechlivanis, S and Peters, M.J.W and Prokopenko, I and Shungin, D and Stancakova, A and Strawbridge, R.J and Sung, Y. Ju and Tanaka, T and Teumer, A and Trompet, S and Laan, S.W. van der and Setten, J. van and Vliet-Ostaptchouk, J.V. Van and Wang, Z and Yengo, L and Zhang, W and Isaacs, A and Albrecht, E and Arnlov, J and Arscott, G.M and Attwood, A.P and Bandinelli, S and Barrett, A and Bas, I.N and Bellis, C and Bennett, A.J and Berne, C and Blagieva, R and Bluher, M and Bohringer, S and Bonnycastle, L.L and Bottcher, Y and Boyd, H.A and Bruinenberg, M and Caspersen, I.H and Chen, Y.D and Clarke, R and Daw, E.W and Craen, A.J. de and Delgado, G and Dimitriou, M and ... and ADIPOGen Consortium and PAGE Consortium and LifeLines Cohort Study and MIGen Consortium and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and CKDGen Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and AGEN-BMI Working Grp and GLGC and International Endogene Consortium and AGEN-BMI Working Group and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GLGC and The GENIE Consortium and The AGEN-BMI Working Group and The MIGen Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Medicinsk genetik och genomik and Geriatrik and Uppsala universitet and Klinisk diabetologi och metabolism and Institutionen för immunologi, genetik och patologi and Molekylär medicin and Kardiovaskulär epidemiologi and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för folkhälso- och vårdvetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 197 - 206
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2010, Volume 362, Issue 13, pp. 1235 - 1236
Physicians have long recognized that pinpointing specific causes of disease in individual patients enables therapies that are the most likely to confer benefit... 
MEDICINE, GENERAL & INTERNAL | CAPTURE | CONTRIBUTE | Mutation | Sequence Analysis, DNA - economics | Genome, Human | Genetic Association Studies - economics | Humans | Charcot-Marie-Tooth Disease - genetics | Usage | Nucleotide sequence | Human genome | Analysis | Charcot-Marie-Tooth disease | Genetic aspects | Diagnosis | Research | Genetic screening | Disease | Genomics | Genomes
Journal Article
by Shungin, Dmitry and Winkler, Thomas W and Croteau-Chonka, Damien C and Ferreira, Teresa and Locke, Adam E and Mägi, Reedik and Strawbridge, Rona J and Pers, Tune H and Fischer, Krista and Justice, Anne E and Workalemahu, Tsegaselassie and Wu, Joseph M. W and Buchkovich, Martin L and Heard-Costa, Nancy L and Roman, Tamara S and ng, Alexander W and Song, Ci and Gustafsson, Stefan and Day, Felix R and Esko, Tonu and Fall, Tove and Kutalik, Zoltán and Luan, Jian'an and Randall, Joshua C and Scherag, Ané and Vedantam, Sailaja and Wood, Anew R and Chen, Jin and Fehrmann, Rudolf and Karjalainen, Juha and Kahali, Bratati and Liu, Ching-Ti and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Ehret, Georg B and Feitosa, Mary F and Goel, Anuj and Jackson, Anne U and Johnson, Toby and Kleber, Marcus E and Henneman, Peter and Hovingh, G. Kees and Kastelein, John J. P and Chen, Wei and PAGE Consortium and LifeLines Cohort Study and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and ADIPOGEN Consortium and CKDGen Consortium and GEFOS Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and GLGC and ADIPOGen Consortium and International Endogene Consortium and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GENIE Consortium and The GLGC and The GEFOS Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 187 - U378
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our... 
ABDOMINAL ADIPOSITY | METAANALYSIS | VARIANTS | MULTIDISCIPLINARY SCIENCES | COMMON SNPS | GLYCEMIC TRAITS | RISK | FALSE DISCOVERY | GENOME-WIDE ASSOCIATION | ADIPOGENIC DIFFERENTIATION | SEXUAL-DIMORPHISM | Body Mass Index | Genome-Wide Association Study | Age Factors | Neovascularization, Physiologic - genetics | Epigenesis, Genetic | Humans | Male | Continental Population Groups - genetics | Sex Characteristics | Obesity - genetics | Europe - ethnology | Genome, Human - genetics | Adipose Tissue - metabolism | Insulin - metabolism | Models, Biological | Adipocytes - metabolism | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Body Fat Distribution | Transcription, Genetic - genetics | Adipogenesis - genetics | Waist-Hip Ratio | Quantitative Trait Loci - genetics | Adipose tissues | Quantitative trait loci | Genetic research | Genetic aspects | Research | Metabolism | Health aspects | Studies | Body mass index | Genealogy | Body fat | Insulin resistance | Genetics | Genomes | Abdomen | Meta-analysis | Life Sciences | Adipocytes/metabolism Adipogenesis/genetics Adipose Tissue/metabolism Age Factors Body Fat Distribution Body Mass Index Continental Population Groups/genetics Epigenesis, Genetic Europe/ethnology Female Genome, Human/genetics Genome-Wide Association Study Humans Insulin/metabolism Insulin Resistance/genetics Male Models, Biological Neovascularization, Physiologic/genetics Obesity/genetics Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics Sex Characteristics Transcription, Genetic/genetics Waist-Hip Ratio | Clinical Medicine | Hälsa och välfärd | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Health and Welfare
Journal Article