검색어 : 통합검색[Human molecular genetics 3]
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91
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<i>Magel2</i> truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome
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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)
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92
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The Accumulation of Specific Amplifications Characterizes Two Different Genomic Pathways of Evolution of Familial Breast Tumors
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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)
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93
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A panoply of errors: polymerase proofreading domain mutations in cancer
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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)
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94
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Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles
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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)
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95
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The 56 kDa androgen-binding protein in human genital skin fibroblasts: its relation to the human androgen receptor
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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)
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96
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Extracellular matrix mineralization is regulated locally; different roles of two gla-containing proteins
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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)
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97
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Inhibition of glycogen synthase kinase-3<B>β</B> by bivalent zinc ions: insight into the insulin-mimetic action of zinc
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Ilouz, Ronit;
Kaidanovich, Oksana;
Gurwitz, David;
Eldar-Finkelman, Hagit;
;
(Biochemical and biophysical research communications,
v.295,
2002,
pp.102-106)
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98
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Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near <i>SH2B3</i> and <i>TSHZ1</i>
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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)
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99
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c-Myc-regulated microRNAs modulate E2F1 expression
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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)
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100
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
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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)