검색어 : 통합검색[Human molecular genetics 3]
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891
- Personalized Medicine Europe: Health, Genes and Society: Tel-Aviv University, Tel-Aviv, Israel, June 19–21, 2005
- Gurwitz, David; Livshits, Gregory; 1Department of Human Genetics and Molecular Medicine, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; [1] 2Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel [2] 3Yoran Institute for Human Genome Research, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; (European journal of human genetics : EJHG, v.14, 2006, pp.376-380)
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892
- A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
- Fernandez-Rozadilla, Ceres; Cazier, Jean-Baptiste; Tomlinson, Ian P; Carvajal-Carmona, Luis G; Palles, Claire; Lamas, Marí a J; Baiget, Montserrat; Ló pez-Ferná ndez, Luis A; Brea-Ferná ndez, Alejandro; Abulí , Anna; Bujanda, Luis; Clofent, Juan; Gonzalez, Dolors; Xicola, Rosa; Andreu, Montserrat; Bessa, Xavier; Jover, Rodrigo; Llor, Xavier; Moreno, Ví ctor; Castells, Antoni; Carracedo, Á ngel; Castellvi-Bel, Sergi; Ruiz-Ponte, Clara; Galician Public Fundation of Genomic Medicine (FPGMX)-Grupo de Medicina Xenó mica-Centro de Investigació n Biomé dica en Red de Enfermedades Raras (CIBERer)-IDIS, Santiago de Compostela, 15706, Spain; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Department of Biochemistry and Molecular Medicine School of Medicine University of California, Davis, California, USA; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK; Oncology Pharmacy Unit, Complejo Hospitalario Universitario of Santiago (CHUS), Santiago de Compostela, 15706, Spain; Genetics Department, Hospital de Santa Creu I Sant Pau, Barcelona, 08025, Spain; Pharmacogenetics & Pharmacogenomics Laboratory, Servicio de Farmacia, Hospital General Universitario Gregorio Marañ ó n, Instituto de Investigació n Sanitaria Gregorio Marañ &oa; (BMC genomics, v.14, 2013, pp.55-55)
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893
- Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
- Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeş il, Gö zde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schö neborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jü rgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayç a Dilruba; Salpietro, Vincenz; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz , Iran; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12622 , Egypt; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre , Oxford, OX3 7BN UK; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini , 16147 Genoa , Italy; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran; Human Molecular Genetics Laboratory, Health Bi; (Brain : a journal of neurology, v.146, 2023, pp.5031-5043)
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894
- Genome-wide association study of Alzheimer's disease
- Kamboh, M I; Demirci, F Y; Wang, X; Minster, R L; Carrasquillo, M M; Pankratz, V S; Younkin, S G; Saykin, A J; Jun, G; Baldwin, C; Logue, M W; Buros, J; Farrer, L; Pericak-Vance, M A; Haines, J L; Sweet, R A; Ganguli, M; Feingold, E; DeKosky, S T; Lopez, O L; Barmada, M M; 1] Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA [2] University of Pittsburgh Alzheimer's Disease Research Center, Pittsburgh, PA, USA [3] Department of Psychiatry, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA; Departments of Radiology and Imaging Sciences and Medical and Molecular Genetics, Indiana University School of M; (Translational psychiatry, v.2, 2012, pp.e117)
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895
- Gain-of-Function Mutations of <i>ARHGAP31</i>, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
- Southgate, Laura; Machado, Rajiv D.; Snape, Katie M.; Primeau, Martin; Dafou, Dimitra; Ruddy, Deborah M.; Branney, Peter A.; Fisher, Malcolm; Lee, Grace J.; Simpson, Michael A.; He, Yi; Bradshaw, Teisha Y.; Blaumeiser, Bettina; Winship, William S.; Reardon, Willie; Maher, Eamonn R.; FitzPatrick, David R.; Wuyts, Wim; Zenker, Martin; Lamarche-Vane, Nathalie; Trembath, Richard C.; Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital, London, London SE1 9RT, UK; Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital, London, London SE1 9RT, UK; Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital, London, London SE1 9RT, UK; Department of Anatomy and Cell Biology, McGill University, 3640 University Street, Montreal, Quebec H3A 2B2, Canada; Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital, London, London SE1 9RT, UK; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK; Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Department of Medical and Molecular Genetic; (American journal of human genetics, v.88, 2011, pp.574-585)
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896
- Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
- Nan, Xinsheng; Hou, Jianghui; Maclean, Alan; Nasir, Jamal; Lafuente, Maria Jose; Shu, Xinhua; Kriaucionis, Skirmantas; Bird, Adrian; *Wellcome Trust Centre for Cell Biology, University of Edinburgh, The King's Buildings, Edinburgh EH9 3JR, United Kingdom; ; Molecular Medicine Centre and; Molecular Medicine Centre and; Molecular Medicine Centre and; Molecular Medicine Centre and; Medical Research Council Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom; *Wellcome Trust Centre for Cell Biology, University of Edinburgh, The King's Buildings, Edinburgh EH9 3JR, United Kingdom; (Proceedings of the National Academy of Sciences of the United States of America, v.104, 2007, pp.2709-2714)
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897
- SAIL—a software system for sample and phenotype availability across biobanks and cohorts
- Gostev, Mikhail; Fernandez-Banet, Julio; Rung, Johan; Dietrich, Joern; Prokopenko, Inga; Ripatti, Samuli; McCarthy, Mark I.; Brazma, Alvis; Krestyaninova, Maria; EMBL-EBI, European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN, UK, Institute for Molecular Medicine Finland FIMM, 00014 University of Helsinki and Public Health Genomics, National Institute for Health and Welfare, 00271 Helsinki, Finland; EMBL-EBI, European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN, UK, Institute for Molecular Medicine Finland FIMM, 00014 University of Helsinki and Public Health Genomics, National Institute for Health and Welfare, 00271 Helsinki, Finland; EMBL-EBI, European Molecular Biology Laboratory, Wel; (Bioinformatics, v.27, 2011, pp.589-591)
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898
- Brain-specific <i>Foxp1</i> deletion impairs neuronal development and causes autistic-like behaviour
- Bacon, C; Schneider, M; Le Magueresse, C; Froehlich, H; Sticht, C; Gluch, C; Monyer, H; Rappold, G A; Department of Molecular Human Genetics, Medical Faculty of Heidelberg University, Im Neuenheimer Feld 366 , Heidelberg, Germany; Research Group Developmental Neuropsychopharmacology, Institute of Psychopharmacology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University , Germany; Interdisciplinary Centre for Neurosciences (IZN), University of Heidelberg , Germany; Department of Molecular Human Genetics, Medical Faculty of Heidelberg University, Im Neuenheimer Feld 366 , Heidelberg, Germany; Medical Research Center, University of Heidelberg, Theodor_Kutzer_Ufer 1-3 , Mannheim, Germany; Research Group Developmental Neuropsychopharmacology, Institute of Psychopharmacology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University , Germany; Interdisciplinary Cent; (Molecular psychiatry, v.20, 2015, pp.632-639)
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899
- Chromosomal Translocations as a Mechanism of BRAF Activation in Two Cases of Large Congenital Melanocytic Nevi
- Dessars, Barbara; De Raeve, Linda E; Housni, Hakim El; Debouck, Catherine J; Sidon, Pierre J; Morandini, Renato; Roseeuw, Diane; Ghanem, Ghanem E; Vassart, Gilbert; Heimann, Pierre; 1Inter-disciplinary Research in Human and Molecular Biology Institute (IRIBHM), Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium; 2Department of Dermatology, Academic Hospital Vrije Universiteit Brussel, Brussels, Belgium; 3Department of Medical Genetics, Erasme Hospital, Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium; 3Department of Medical Genetics, Erasme Hospital, Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium; [1] 1Inter-disciplinary Research in Human and Molecular Biology Institute (IRIBHM), Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium [2] 4Department of Cytogenetics, Bordet Institute, Brussels, Belgium; 5LOCE, Bordet Institute, Brussels, Belgium; 2Department of Dermatology, Academic Hospital Vrije Universiteit Brussel, Brussels, Belgium; 5LOCE, Bordet Institute, Brussels, Belgium; 1Inter-disciplinary Research in Human and Molecular Biology Institute (IR; (Journal of investigative dermatology, v.127, 2007, pp.1468-1470)
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900
- Molecular control of endothelial cell behaviour during blood vessel morphogenesis
- Herbert, Shane P.; Stainier, Didier Y. R.; 1] Department of Biochemistry and Biophysics, Programs in Developmental and Stem Cell Biology, Genetics and Human Genetics, Cardiovascular Research Institute, University of California, San Francisco, California 94158, USA. [2] Multidisciplinary Cardiovascular Research Centre and Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK. [3] Faculty of Life Sciences, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.; Department of Biochemistry and Biophysics, Programs in Developmental and Stem Cell Biology, Genetics and Human Genetics, Cardiovascular Research Institute, University of California, San Francisco, California 94158, USA.; (Nature reviews. Molecular cell biology, v.12, 2011, pp.551-564)
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