검색어 : 통합검색[Human molecular genetics 3]
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151
- PTCH1 duplication in a family with microcephaly and mild developmental delay
- Derwiń ska, Katarzyna; Smyk, Marta; Cooper, Mitchell Lance; Bader, Patricia; Cheung, Sau Wai; Stankiewicz, Paweł; [1] 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] 2Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; [1] 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] 2Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 3Department of Cytogenetics, Parkview Memorial Hospital, Fort Wayne, IN, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; (European journal of human genetics : EJHG, v.17, 2009, pp.267-271)
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152
- A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
- Koolen, David A; Vissers, Lisenka E L M; Pfundt, Rolph; de Leeuw, Nicole; Knight, Samantha JL; Regan, Regina; Kooy, R Frank; Reyniers, Edwin; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; Knoers, Nine V; van Kessel, Ad Geurts; Sistermans, Erik A; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.; Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford OX3 7BN, UK.; Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford OX3 7BN, UK.; Department of Medical Genetics, University of Antwerp, B-2610 Antwerp, Belgium.; Department of Medical Genetics, University of Antwerp, B-2610; (Nature genetics, v.38, 2006, pp.999-1001)
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153
- A Polymorphic Enhancer near <i>GREM1</i> Influences Bowel Cancer Risk through Differential CDX2 and TCF7L2 Binding
- Lewis, Annabelle; Freeman-Mills, Luke; de la Calle-Mustienes, Elisa; Girá ldez-Pé rez, Rosa Marí a; Davis, Hayley; Jaeger, Emma; Becker, Martin; Hubner, Nina C.; Nguyen, Luan N.; Zeron-Medina, Jorge; Bond, Gareth; Stunnenberg, Hendrik G.; Carvajal, Jaime J.; Gomez-Skarmeta, Jose Luis; Leedham, Simon; Tomlinson, Ian; 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; Centro Andaluz de Biologí a del Desarrollo, CSIC-Universidad Pablo de Olavide-Junta de Andalucí a, Carretera de Utrera Km1, 41013 Sevilla, Spain; Centro Andaluz de Biologí a del Desarrollo, CSIC-Universidad Pablo de Olavide-Junta de Andalucí a, Carretera de Utrera Km1, 41013 Sevilla, Spain; 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; Max Planck Institute for Psycholinguistics, Wundtlaan 1, 6525 XD Nijme; (Cell reports, v.8, 2014, pp.983-990)
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154
- Father-to-offspring transmission of extremely long <i>NOTCH2NLC</i> repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
- Fukuda, Hiromi; Yamaguchi, Daisuke; Nyquist, Kristofor; Yabuki, Yasushi; Miyatake, Satoko; Uchiyama, Yuri; Hamanaka, Kohei; Saida, Ken; Koshimizu, Eriko; Tsuchida, Naomi; Fujita, Atsushi; Mitsuhashi, Satomi; Ohbo, Kazuyuki; Satake, Yuki; Sone, Jun; Doi, Hiroshi; Morihara, Keisuke; Okamoto, Tomoko; Takahashi, Yuji; Wenger, Aaron M.; Shioda, Norifumi; Tanaka, Fumiaki; Matsumoto, Naomichi; Mizuguchi, Takeshi; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004 Japan; BioInformation Technology & Science, Tokyo, Japan; Pacific Biosciences, Menlo Park, CA USA; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG), Kumamoto University, Kumamoto, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004 Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004 Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004 Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004 Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuur; (Clinical epigenetics, v.13, 2021, pp.204)
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155
- <i>FBXW7</i> mutations typically found in human cancers are distinct from null alleles and disrupt lung development
- Davis, Hayley; Lewis, Annabelle; Spencer-Dene, Bradley; Tateossian, Hilda; Stamp, Gordon; Behrens, Axel; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University Roosevelt Drive, Oxford OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University Roosevelt Drive, Oxford OX3 7BN, UK; Experimental Histopathology Laboratory, London Research Institute, Cancer Research UK 44 Lincoln's Inn Fields, London WC2A 3LY, UK; MRC Mammalian Genetics Unit Harwell, OX11 ORD, UK; Experimental Histopathology Laboratory, London Research Institute, Cancer Research UK 44 Lincoln's Inn Fields, London WC2A 3LY, UK; Mammalian Genetics Laboratory, London Research Institute, Cancer Research UK 44 Lincoln's Inn Fields, London WC2A 3LY, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford University Roosevelt Drive, Oxford OX3 7BN, UK; (The Journal of pathology : a journal of the Pathological Society of Great Britain and Ireland, v.224, 2011, pp.180-189)
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156
- Facultative cheater mutants reveal the genetic complexity of cooperation in social amoebae
- Santorelli, Lorenzo A.; Thompson, Christopher R. L.; Villegas, Elizabeth; Svetz, Jessica; Dinh, Christopher; Parikh, Anup; Sucgang, Richard; Kuspa, Adam; Strassmann, Joan E.; Queller, David C.; Shaulsky, Gad; Department of Ecology and Evolutionary Biology, Rice University, Houston, Texas 77005, USA; [1] Department of Molecular and Human Genetics, [2] Present address: Faculty of Life Sciences, Michael Smith Building, University of Manchester, Manchester M13 9PT, UK.; Department of Molecular and Human Genetics,; Department of Molecular and Human Genetics,; Department of Biochemistry and Molecular Biology,; [1] Department of Molecular and Human Genetics, [2] Graduate Program in Structural Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Biochemistry and Molecular Biology,; [1] Department of Ecology and Evolutionary Biology, Rice University, Houston, Texas 77005, USA [2] Department of Molecular and Human Genetics, [3] Department of Biochemistry and Molecular Biology,; Department of Ecology and Evolutionary Biology, Rice University, Houston, Texas 77005, USA; Department of Ecology and Evolutionary Biology, Rice Universi; (Nature, v.451, 2008, pp.1107-1110)
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157
- 'Toxgnostics': an unmet need in cancer medicine
- Church, David; Kerr, Rachel; Domingo, Enric; Rosmarin, Dan; Palles, Claire; Maskell, Kevin; Tomlinson, Ian; Kerr, David; 1] Oxford Cancer Centre, Department of Oncology, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE, UK. [2] Molecular and Population Genetics Laboratory, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Oxford Cancer Centre, Department of Oncology, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE, UK.; Molecular and Population Genetics Laboratory, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Molecular and Population Genetics Laboratory, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Molecular and Population Genetics Laboratory, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.; Oxford Cancer Biomarkers, The Magdalen Centre, Oxford Science Park, Robert Robinson Avenue, Oxford, OX4 4GA, UK.; (Nature reviews. Cancer, v.14, 2014, pp.440-445)
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158
- Evolution of condensin and cohesin complexes driven by replacement of Kite by Hawk proteins
- Wells, Jonathan N.; Gligoris, Thomas G.; Nasmyth, Kim A.; Marsh, Joseph A.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Department of Biochemistry, University of Oxford, Oxford, OX1 3QU, UK; Department of Biochemistry, University of Oxford, Oxford, OX1 3QU, UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; (Current biology : CB, v.27, 2017, pp.R17-R18)
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159
- Studying Epigenomics in Single Cells: What is Feasible and what can we Learn?
- Wills, Quin F; Higgs, Douglas R; Mead, Adam J; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UKWellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UKWellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UKWellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK; (Epigenomics, v.7, 2015, pp.1231-1234)
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160
- [Structural and functional analyses of the Hfb1, Hmob3 and Hmob33 cDNAs as an example of human brain-specific gene studies]
- Dergunova, L V; Raevskaia, N M; Vladychenskaia, I P; Limborskaia, S A; ; (Molekuliarnaia biologiia, v.37, 2003, pp.315-324)
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