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검색어 : 통합검색[Human molecular genetics 3]

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181

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Koolen, David A; Sistermans, Erik A; Nilessen, Willy; Knight, Samantha J L; Regan, Regina; Liu, Yan T; Kooy, R Frank; Rooms, Liesbeth; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; van Kessel, Ad Geurts; Nordenskjold, Magnus; de Vries, Bert B A; 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; [1] 2Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Oxford, UK [2] 3Oxford NIHR Biomedical Research Centre, Oxford Radcliffe Hospitals NHS Trust, Churchill Hospital, Oxford, UK; [1] 2Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Oxford, UK [2] 3Oxford NIHR Biomedical Research Centre, Oxford Radcliffe Hospitals NHS Trust, Churchill Hospital, Oxford, UK; 2Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Oxford, UK; 4Department of Medical Genetics, University of Antwerp,; (European journal of human genetics : EJHG, v.16, 2008, pp.395-400)
182

Analysis of variable <I>N</I>-glycosylation site occupancy in glycoproteins by liquid chromatography electrospray ionization mass spectrometry

Nettleship, Joanne E.; Aplin, Robin; Radu Aricescu, A.; Evans, Edward J.; Davis, Simon J.; Crispin, Max; Owens, Raymond J.; ; (Analytical biochemistry, v.361, 2007, pp.149-151)
183

Towards a transgenic model of Huntington’s disease in a non-human primate

Yang, Shang-Hsun; Cheng, Pei-Hsun; Banta, Heather; Piotrowska-Nitsche, Karolina; Yang, Jin-Jing; Cheng, Eric C. H.; Snyder, Brooke; Larkin, Katherine; Liu, Jun; Orkin, Jack; Fang, Zhi-Hui; Smith, Yoland; Bachevalier, Jocelyne; Zola, Stuart M.; Li, Shi-Hua; Li, Xiao-Jiang; Chan, Anthony W. S.; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics, [3] Genetics and Molecular Biology Program, [4] These authors contributed equally to this work.; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics, [3] These authors contributed equally to this work.; [1] Yerkes National Primate Research Center, [2] These authors contributed equally to this work.; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics, [3] Department of Experimental Embryology, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, 05-552 Wolka-Kosowska, Poland; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics,; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics,; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics,; Yerkes National Primate Research Center,; [1] Yerkes National Primate Research Center, [2] Department of Human Genetics, [; (Nature, v.453, 2008, pp.921-924)
184

The interferon gene cluster: a candidate region for MS predisposition?

Miterski, B; Jaeckel, S; Epplen, J T; Pö hlau, D; Hardt, C; Molecular Human Genetics, Ruhr-University, 44780 Bochum, Germany; Molecular Human Genetics, Ruhr-University, 44780 Bochum, Germany; Molecular Human Genetics, Ruhr-University, 44780 Bochum, Germany; Sauerlandklinik Hachen, Sundern, Germany; [1] Molecular Human Genetics, Ruhr-University, 44780 Bochum, Germany [2] Previously: C Epplen; Present address: Institut fü r Humangenetik, Universitä tsklinikum Essen, 45122 Essen, Germany [3] H Przuntek; Department of Neurology, St. Josef Hospital, Ruhr-University, Bochum, Germany; E Sindern, J-P Malin; Department of Neurology, Kliniken Bergmannsheil, Ruhr-University, Bochum, Germany; M Haupts, W Gehlen; Department of Neurology, Knappschaft, Ruhr-University, Bochum, Germany; F Weber, S Poser; Department of Neurology, University Clinic, Gö ttingen, Germany; (Genes and immunity, v.1, 1999, pp.37-44)
185

Evidence for an early prokaryotic endosymbiosis

Lake, James A.; [1] Department of Molecular, Cellular and Developmental Biology, [2] Molecular Biology Institute, [3] Department of Human Genetics, [4] UCLA Astrobiology Institute, University of California, Los Angeles, California 90095, USA; (Nature, v.460, 2009, pp.967-971)
186

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

Morgan, Michael D.; Pairo-Castineira, Erola; Rawlik, Konrad; Canela-Xandri, Oriol; Rees, Jonathan; Sims, David; Tenesa, Albert; Jackson, Ian J.; MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU UK; Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU UK; Dermatology, University of Edinburgh, Lauriston Building, Edinburgh, EH3 9HA UK; MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Cr; (Nature communications, v.9, 2018, pp.5271)
187

Cre-Mediated Recombination in Tas2r131 Cells—A Unique Way to Explore Bitter Taste Receptor Function Inside and Outside of the Taste System

Voigt, Anja; Hü bner, Sandra; Dü ö ring, Linda; Perlach, Nathalie; Hermans-Borgmeyer, Irm; Boehm, Ulrich; Meyerhof, Wolfgang; ¹ Department of Molecular Genetics, German Institute of Human Nutrition Potsdam-Rehbruecke, Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany,; ¹ Department of Molecular Genetics, German Institute of Human Nutrition Potsdam-Rehbruecke, Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany,; ¹ Department of Molecular Genetics, German Institute of Human Nutrition Potsdam-Rehbruecke, Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany,; ¹ Department of Molecular Genetics, German Institute of Human Nutrition Potsdam-Rehbruecke, Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany,; ³ Transgenic Animals Service Group, Center for Molecular Neurobiology Hamburg, UKE, Martinistraße 52, 20246 Hamburg, Germany; ² Institute for Neural Signal Transduction, Center for Molecular Neurobiology Hamburg, Falkenried 94, 20251 Hamburg, Germany and; ¹ Department of Molecular Genet; (Chemical senses, v.40, 2015, pp.627-639)
188

Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism

Nurmi, E L; Amin, T; Olson, L M; Jacobs, M M; McCauley, J L; Lam, A Y; Organ, E L; Folstein, S E; Haines, J L; Sutcliffe, J S; [1] 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA [2] 2Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN, USA; 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA; 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA; 2Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN, USA; 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA; 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA; 1Department of Molecular Physiology and Biophysics, Program in Human Genetics, Vanderbilt University, Nashville, TN, USA; 3Department of Psychiatry, Tufts University School of Medicine and New England Medical Center, B; (Molecular psychiatry, v.8, 2003, pp.624-634)
189

Mutations in <i>SPATA7</i> Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Wang, Hui; den Hollander, Anneke I.; Moayedi, Yalda; Abulimiti, Abuduaini; Li, Yumei; Collin, Rob W.J.; Hoyng, Carel B.; Lopez, Irma; Bray, Molly; Lewis, Richard Alan; Lupski, James R.; Mardon, Graeme; Koenekoop, Robert K.; Chen, Rui; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Ophthalmology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands; McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec H3H 1P3, Canada; Children's Nutrition Research Center, Baylor College of Medicine,; (American journal of human genetics, v.84, 2009, pp.380-387)
190

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Gonzaga-Jauregui, Claudia; Gamble, Candace N; Yuan, Bo; Penney, Samantha; Jhangiani, Shalini; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Hecht, Jacqueline T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, UT Health Medical School, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA [4] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics,; (European journal of human genetics : EJHG, v.23, 2015, pp.342-346)

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