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검색어 : 통합검색[Human molecular genetics 3]

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  • 91
    <i>Magel2</i> truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome
    Reznik, Derek L.; Yang, Mingxiao V.; Albelda de la Haza, Pedro; Jain, Antrix; Spanjaard, Melanie; Theiss, Susanne; Schaaf, Christian P.; Malovannaya, Anna; Strong, Theresa V.; Veeraragavan, Surabi; Samaco, Rodney C.; Baylor College of Medicine 1 , Department of Molecular and Human Genetics, Houston, TX 77030 , USA; Baylor College of Medicine 1 , Department of Molecular and Human Genetics, Houston, TX 77030 , USA; Baylor College of Medicine 1 , Department of Molecular and Human Genetics, Houston, TX 77030 , USA; Baylor College of Medicine, Mass Spectrometry Proteomics Core 3 , Houston, TX 77030 , USA; Heidelberg University, Institute of Human Genetics 4 , Im Neuenheimer Feld 366, 69120 Heidelberg , Germany; Heidelberg University, Institute of Human Genetics 4 , Im Neuenheimer Feld 366, 69120 Heidelberg , Germany; Heidelberg University, Institute of Human Genetics 4 , Im Neuenheimer Feld 366, 69120 Heidelberg , Germany; Baylor College of Medicine, Mass Spectrometry Proteomics Core 3 , Houston, TX 77030 , USA; Foundation for Prader-Willi Research 7 , Walnut, CA 91789 , USA; Baylor College of Medicine 1 , Department of Molecular and Human Genetics, Houston, TX 77030 , USA; Baylor College of M; (Disease models & mechanisms : DMM, v.16, 2023, pp.dmm049829)
  • 92
    The Accumulation of Specific Amplifications Characterizes Two Different Genomic Pathways of Evolution of Familial Breast Tumors
    Melchor, Lorenzo; Á lvarez, Sara; Honrado, Emiliano; Palacios, José ; Barroso, Alicia; Dí ez, Orland; Osorio, Ana; Bení tez, Javier; 1Human Genetics Group; Human Cancer Genetics Programme; ; 2Cytogenetics Unit, Biotechnology Programme; and; 1Human Genetics Group; Human Cancer Genetics Programme; ; 3Laboratory of Breast and Gynecological Cancer, Molecular Pathology Programme, Spanish National Cancer Center, Madrid, Spain; and; 1Human Genetics Group; Human Cancer Genetics Programme; ; 4Department of Genetics, Hospital Santa Creu i Sant Pau, Barcelona, Spain; 1Human Genetics Group; Human Cancer Genetics Programme; ; 1Human Genetics Group; Human Cancer Genetics Programme; (Clinical Cancer research : an official journal of the American Association for Cancer Research, v.11, 2005, pp.8577-8584)
  • 93
    A panoply of errors: polymerase proofreading domain mutations in cancer
    Rayner, Emily; van Gool, Inge C.; Palles, Claire; Kearsey, Stephen E.; Bosse, Tjalling; Tomlinson, Ian; Church, David N.; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.; Department of Pathology, Leiden University Medical Center, Albinusdreef 2, Postbus 9600, 2300 RC Leiden, The Netherlands.; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.; Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK.; Department of Pathology, Leiden University Medical Center, Albinusdreef 2, Postbus 9600, 2300 RC Leiden, The Netherlands.; 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.; (Nature reviews. Cancer, v.16, 2016, pp.71-81)
  • 94
    Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles
    Carvajal-Carmona, L.G.; Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; (Current opinion in genetics & development, v.20, 2010, pp.308-314)
  • 95
    The 56 kDa androgen-binding protein in human genital skin fibroblasts: its relation to the human androgen receptor
    Pereira, F.; Belsham, D.; Duerksen, K.; Rosenmann, E.; Kaufman, M.; Pinsky, L.; Wrogemann, K.; Department of Biochemistry & Molecular Biology and Human Genetics, University of Manitoba, R3E OW3,, Winnipeg, Canada; (Molecular and cellular endocrinology, v.68, 1990, pp.195-204)
  • 96
    Extracellular matrix mineralization is regulated locally; different roles of two gla-containing proteins
    Murshed, Monzur; Schinke, Thorsten; McKee, Marc D.; Karsenty, Gerard; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; Faculty of Dentistry, McGill University, Montreal, Quebec, Canada H3A 2B2; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030; (The Journal of cell biology, v.165, 2004, pp.625-630)
  • 97
    Inhibition of glycogen synthase kinase-3<B>&beta;</B> by bivalent zinc ions: insight into the insulin-mimetic action of zinc
    Ilouz, Ronit; Kaidanovich, Oksana; Gurwitz, David; Eldar-Finkelman, Hagit; ; (Biochemical and biophysical research communications, v.295, 2002, pp.102-106)
  • 98
    Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near <i>SH2B3</i> and <i>TSHZ1</i>
    Cheng, Timothy HT; Thompson, Deborah; Painter, Jodie; O’Mara, Tracy; Gorman, Maggie; Martin, Lynn; Palles, Claire; Jones, Angela; Buchanan, Daniel D.; Ko Win, Aung; Hopper, John; Jenkins, Mark; Lindor, Noralane M.; Newcomb, Polly A.; Gallinger, Steve; Conti, David; Schumacher, Fred; Casey, Graham; Giles, Graham G; Pharoah, Paul; Peto, Julian; Cox, Angela; Swerdlow, Anthony; Couch, Fergus; Cunningham, Julie M; Goode, Ellen L; Winham, Stacey J; Lambrechts, Diether; Fasching, Peter; Burwinkel, Barbara; Brenner, Hermann; Brauch, Hiltrud; Chang-Claude, Jenny; Salvesen, Helga B.; Kristensen, Vessela; Darabi, Hatef; Li, Jingmei; Liu, Tao; Lindblom, Annika; Hall, Per; de Polanco, Magdalena Echeverry; Sans, Monica; Carracedo, Angel; Castellvi-Bel, Sergi; Rojas-Martinez, Augusto; Aguiar Jnr, Samuel; Teixeira, Manuel R.; Dunning, Alison M; Dennis, Joe; Otton, Geoffrey; Proietto, Tony; Holliday, Elizabeth; Attia, John; Ashton, Katie; Scott, R; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford , Roosevelt Drive, Oxford OX3 7BN, UK; Centre for Cancer Genetic Epidemiology, Public Health and Primary Care, University of Cambridge , Cambridge CB1 8RN, UK; The Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute , Brisbane 4006, Australia; The Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute , Brisbane 4006, Australia; 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,; (Scientific reports, v.5, 2015, pp.17369)
  • 99
    c-Myc-regulated microRNAs modulate E2F1 expression
    O'Donnell, Kathryn A.; Wentzel, Erik A.; Zeller, Karen I.; Dang, Chi V.; Mendell, Joshua T.; [1] Program in Human Genetics and Molecular Biology, [2] The Institute of Genetic Medicine,; The Institute of Genetic Medicine,; Departments of Medicine and; [1] Program in Human Genetics and Molecular Biology, [2] The Institute of Genetic Medicine, [3] Departments of Medicine and [4] the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA; [1] Program in Human Genetics and Molecular Biology, [2] The Institute of Genetic Medicine, [3] Pediatrics, and; (Nature, v.435, 2005, pp.839-843)
  • 100
    A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
    Franco, Luis M; de Ravel, Thomy; Graham, Brett H; Frenkel, Stephanie M; Van Driessche, Jozef; Stankiewicz, Pawel; Lupski, James R; Vermeesch, Joris R; Cheung, Sau Wai; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; VZW Martine Van Camp, Diest, Belgium; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA [3] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; (European journal of human genetics : EJHG, v.18, 2010, pp.258-261)
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