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검색어 : 통합검색[Human molecular genetics 3]

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31

Hereditary mixed polyposis syndrome is caused by a 40kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

Jaeger, Emma; Leedham, Simon; Lewis, Annabelle; Segditsas, Stefania; Becker, Martin; Cuadrado, Pedro Rodenas; Davis, Hayley; Kaur, Kulvinder; Heinimann, Karl; Howarth, Kimberley; East, James; Taylor, Jenny; Thomas, Huw; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; Molecular and Population Genetics Labora; (Nature genetics, v.44, 2012, pp.699-703)
32

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

Castermans, Dries; Vermeesch, Joris R; Fryns, Jean-Pierre; Steyaert, Jean G; Van de Ven, Wim J M; Creemers, John W M; Devriendt, Koen; 1Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium; 2Centre for Human Genetics, Division of Clinical Genetics, Catholic University of Leuven, Leuven, Belgium; 2Centre for Human Genetics, Division of Clinical Genetics, Catholic University of Leuven, Leuven, Belgium; [1] 2Centre for Human Genetics, Division of Clinical Genetics, Catholic University of Leuven, Leuven, Belgium [2] 4Department of Child Psychiatry, Catholic University of Leuven, Leuven, Belgium [3] 5Centre for Clinical Genetics, University of Maastricht, Maastricht, The Netherlands; 3Laboratory for Molecular Oncology, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium; 1Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic Universi; (European journal of human genetics : EJHG, v.15, 2007, pp.422-431)
33

Vascular dysfunction precedes hypertension associated with a blood pressure locus on rat chromosome 12

Prisco, Sasha Z.; Priestley, Jessica R. C.; Weinberg, Brian D.; Prisco, Anthony R.; Hoffman, Matthew J.; Jacob, Howard J.; Flister, Michael J.; Lombard, Julian H.; Lazar, Jozef; ¹Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ³Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ³Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ²Biotechnology and Bioengineering Center, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ¹Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ¹Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ¹Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ³Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin; ; ¹Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; (American journal of physiology, Heart and circulatory physiology, v.307, 2014, pp.H1103-H1110)
34

신경정신장애의 분자 유전학적 접근

전진숙; 고신대학교; (고신대학교 의과대학 학술지, v.9, 1993, pp.105-127)
35

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Schreml, Julia; Riessland, Markus; Paterno, Mario; Garbes, Lutz; Roßbach, Kristina; Ackermann, Bastian; Krä mer, Jan; Somers, Eilidh; Parson, Simon H; Heller, Raoul; Berkessel, Albrecht; Sterner-Kock, Anja; Wirth, Brunhilde; 1] Institute of Human Genetics, University of Cologne, Cologne, Germany [2] Institute for Genetics, University of Cologne, Cologne, Germany [3] Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 1] Institute of Human Genetics, University of Cologne, Cologne, Germany [2] Institute for Genetics, University of Cologne, Cologne, Germany [3] Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 1] Institute of Human Genetics, University of Cologne, Cologne, Germany [2] Institute for Genetics, University of Cologne, Cologne, Germany [3] Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 1] Institute of Human Genetics, University of Cologne, Cologne, Germany [2] Institute for Genetics, University of Cologne, Cologne, Germany [3] Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 1] Institute of Human Genetics, University of Cologne, Cologne, Germany [2] Institute for Genetics,; (European journal of human genetics : EJHG, v.21, 2013, pp.643-652)
36

Different effects of granulocyte colony-stimulating factor and erythropoietin on erythropoiesis

Chen, Tzu-Lin; Chiang, Ya-Wen; Lin, Guan-Ling; Chang, Hsin-Hou; Lien, Te-Sheng; Sheh, Min-Hua; Sun, Der-Shan; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; Institute of Medical Sciences, Tzu-Chi University, Hualien, Taiwan; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; Department of Molecular Biology and Human Genetics, Tzu-Chi University, No. 701, Section 3, Zhong-Yang Road, Hualien, 97004 Taiwan, Republic of China; (Stem cell research & therapy, v.9, 2018, pp.119)
37

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

Li, Yumei; Wang, Hui; Peng, Jianlan; Gibbs, Richard A.; Lewis, Richard Alan; Lupski, James R.; Mardon, Graeme; Chen, Rui; From the Departments of Molecular and Human Genetics,2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; From the Departments of Molecular and Human Genetics,2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; From the Departments of Molecular and Human Genetics,2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; From the Departments of Molecular and Human Genetics,3Ophthalmology,; From the Departments of Molecular and Human Genetics,3Ophthalmology,; From the Departments of Molecular and Human Genetics,3Ophthalmology,4Neuroscience, and5Pathology, the6Program in Developmental Biology, and the; From the Departments of Molecular and Human Genetics,6Program in Developmental Biology, and the2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; (Investigative ophthalmology & visual science, v.50, 2009, pp.1336)
38

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis

Premkumar, M. H.; Sule, G.; Nagamani, S. C.; Chakkalakal, S.; Nordin, A.; Jain, M.; Ruan, M. Z.; Bertin, T.; Dawson, B.; Zhang, J.; Schady, D.; Bryan, N. S.; Campeau, P. M.; Erez, A.; Lee, B.; ¹Division of Neonatology, Texas Children's Hospital, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ²Department of Molecular and Human Genetics, Baylor College of Medicine; ; ³Department of Pathology, Texas Children's Hospital, Houston; ; ⁴University of Texas Health Science Center at; (American journal of physiology, Gastrointestinal and liver physiology, v.307, 2014, pp.G347-G354)
39

Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Palles, Claire; Cazier, Jean-Baptiste; Howarth, Kimberley M; Domingo, Enric; Jones, Angela M.; Broderick, Peter; Kemp, Zoe; Spain, Sarah L; Almeida, Estrella Guarino; Salguero, Israel; Sherborne, Amy; Chubb, Daniel; Carvajal-Carmona, Luis G; Ma, Yusanne; Kaur, Kulvinder; Dobbins, Sara; Barclay, Ella; Gorman, Maggie; Martin, Lynn; Kovac, Michal B; Humphray, Sean; Lucassen, Anneke; Holmes, Christopher; Bentley, David; Donnelly, Peter; Taylor, Jenny; Petridis, Christos; Roylance, Rebecca; Sawyer, Elinor J; Kerr, David J.; Clark, Susan; Grimes, Jonathan; Kearsey, Stephen E; Thomas, Huw JW; McVean, Gilean; Houlston, Richard S; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Section of Cancer Genetics, Brookes-Lawley Building, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3; (Nature genetics, v.45, 2013, pp.136-144)
40

Differentiation In Vitro of Human-Mouse Teratocarcinoma Hybrids

Benham, F. J.; Wiles, M. V.; Goodfellow, P. N.; Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, England; Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, England; Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, England; (Molecular and cellular biology, v.3, 1983, pp.2259-2270)

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