검색어 : 통합검색[Human molecular genetics 3]
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61
- A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at <i>DPYD</i> and a putative role for <i>ENOSF1</i> rather than <i>TYMS</i>
- Rosmarin, Dan; Palles, Claire; Pagnamenta, Alistair; Kaur, Kulvinder; Pita, Guillermo; Martin, Miguel; Domingo, Enric; Jones, Angela; Howarth, Kimberley; Freeman-Mills, Luke; Johnstone, Elaine; Wang, Haitao; Love, Sharon; Scudder, Claire; Julier, Patrick; Ferná ndez-Rozadilla, Ceres; Ruiz-Ponte, Clara; Carracedo, Angel; Castellvi-Bel, Sergi; Castells, Antoni; Gonzalez-Neira, Anna; Taylor, Jenny; Kerr, Rachel; Kerr, David; Tomlinson, Ian; Molecular and Population Genetics Laboratory , Oxford , UK; Molecular and Population Genetics Laboratory , Oxford , UK; Oxford NIHR Comprehensive Biomedical Research Centre, Wellcome Trust Centre for Human Genetics , Oxford , UK; Oxford NIHR Comprehensive Biomedical Research Centre, Wellcome Trust Centre for Human Genetics , Oxford , UK; Human Genotyping Unit-CeGen, Human Cancer Genetics Programme , Spanish National Cancer Research Centre, Melchor Ferná ndez Almagro 3 , Madrid , Spain; Department of Medical Oncology , Instituto de Investigacion Sanitaria Hospital General Universitario Gregorio Marañ ó n, Universidad Complutense , Madrid , Spain; Molecular and Population Genetics Laboratory , Oxford , UK; Molecular and Population Genetics Laboratory , Oxford , UK; Molecular; (Gut: journal of the British Society of Gastroenterology, v.64, 2015, pp.111-120)
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62
- Presenilin-1 interacts directly with the β-site amyloid protein precursor cleaving enzyme (BACE1)
- Hé bert, Sé bastien S; Bourdages, Valé rie; Godin, Chantal; Ferland, Mé lissa; Carreau, Madeleine; Lé vesque, Georges; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; Molecular and Human Genetics Unit, CHUQ-Pavillon St-Franç ois d’Assise, 10 rue de 1’ Espinay, Qué bec G1L 3L5, Canada; (Neurobiology of disease, v.13, 2003, pp.238-245)
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63
- Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 (<i>RP2</i>) Gene Results in Retinal Degeneration
- Shu, Xinhua; Zeng, Zhiqiang; Gautier, Philippe; Lennon, Alan; Gakovic, Milica; Cheetham, Michael E.; Patton, E. Elizabeth; Wright, Alan F.; From the Departments of Biological and Biomedical Sciences and 2Vision Sciences, Glasgow Caledonian University, Glasgow, United Kingdom; 3MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; UCL Institute of Ophthalmology, London, United Kingdom.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; and; (Investigative ophthalmology & visual science, v.52, 2011, pp.2960)
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64
- Genetic analysis of host-parasite coevolution in human malaria
- Hill, Adrian V. S.; Jepson, Annette; Plebanski, Magdalena; Gilbert, Sarah C.; Wellcome Trust Centre for Human Genetics, University of OxfordWindmill Road, Oxford OX3 7BNUK; Wellcome Trust Centre for Human Genetics, University of OxfordWindmill Road, Oxford OX3 7BNUK; Molecular Immunology Group, Institute of Molecular Medicine, Nuffield Department of Medicine, University of OxfordJohn Radcliffe Hospital, Oxford OX3 9DUUK; Wellcome Trust Centre for Human Genetics, University of OxfordWindmill Road, Oxford OX3 7BNUK; (Philosophical transactions. Biological sciences, v.352, 1997, pp.1317-1325)
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65
- Expression patterns of <i>Twist</i> and <i>Fgfr1</i>, <i>-2</i> and <i>-3</i> in the developing mouse coronal suture suggest a key role for <i>Twist</i> in suture initiation and biogenesis
- Johnson, D.; Iseki, S.; Wilkie, A.O.M.; Morriss-Kay, G.M.; Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK; Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK; (Mechanisms of development, v.91, 2000, pp.341-345)
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66
- Leptin regulation of bone resorption by the sympathetic nervous system and CART
- Elefteriou, Florent; Ahn, Jong Deok; Takeda, Shu; Starbuck, Michael; Yang, Xiangli; Liu, Xiuyun; Kondo, Hisataka; Richards, William G.; Bannon, Tony W.; Noda, Masaki; Clement, Karine; Vaisse, Christian; Karsenty, Gerard; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas, [3] Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas 77030, USA; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas,; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas, [3] Department of Orthopedics, [4] Center of Excellence Program for Frontier Research on Molecular Destruction and Reconstruction of Tooth and Bone,; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas,; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas,; [1] Department of Molecular and Human Genetics, [2] Bone Disease Program of Texas,; [1] Center of Excellence Program for Frontier Research on Molecular Destruction and Reconstruction of Tooth and Bone, [2] Department of Molecular Pharmacology, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 101-0062, Japa; (Nature, v.434, 2005, pp.514-520)
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67
- Association study of polymorphisms in the group III metabotropic glutamate receptor genes, <I>GRM4</I> and <I>GRM7</I>, with schizophrenia
- Shibata, Hiroki; Tani, Ayako; Chikuhara, Tomoyuki; Kikuta, Rumiko; Sakai, Mayumi; Ninomiya, Hideaki; Tashiro, Nobutada; Iwata, Nakao; Ozaki, Norio; Fukumaki, Yasuyuki; ; (Psychiatry research, v.167, 2009, pp.88-96)
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68
- MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
- Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hamel, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Ché rif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter; [1] 1Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands [2] 2Institute for Growth and Development, GROW, Maastricht University, Maastricht, The Netherlands; 3Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 4Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Department of Human Genetics, K.U.Leuven, Leuven, Belgium; 3Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 5Center for Human Genetics, Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium; 6Service de Neuropé diatrie, Hospices Civils de Lyon, Lyon, France; 1Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands; 1Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands; 1Department of Clinical Genetics, University Hospital azM M; (European journal of human genetics : EJHG, v.16, 2008, pp.1029-1037)
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69
- Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
- Lahortiga, Idoya; De Keersmaecker, Kim; Van Vlierberghe, Pieter; Graux, Carlos; Cauwelier, Barbara; Lambert, Frederic; Mentens, Nicole; Beverloo, H Berna; Pieters, Rob; Speleman, Frank; Odero, Maria D; Bauters, Marijke; Froyen, Guy; Marynen, Peter; Vandenberghe, Peter; Wlodarska, Iwona; Meijerink, Jules P P; Cools, Jan; [1] Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie (VIB), Leuven, Belgium. [2] Human Genome Laboratory, Center for Human Genetics, Katholieke Universiteit (K.U.) Leuven, Leuven, Belgium. [3] Division of Oncology, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.; [1] Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie (VIB), Leuven, Belgium. [2] Human Genome Laboratory, Center for Human Genetics, Katholieke Universiteit (K.U.) Leuven, Leuven, Belgium.; Department of Pediatric Oncology/Hematology, Erasmus Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands.; [1] Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie (VIB), Leuven, Belgium. [2] Human Genome Laboratory, Center for Human Genetics, Katholieke Universiteit (K.U.) Leuven, Leuven, Belgium. [3] D; (Nature genetics, v.39, 2007, pp.593-595)
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70
- Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of <i>RAD51C</i> missense changes
- Gayarre, Javier; Martí n-Gimeno, Paloma; Osorio, Ana; Paumard, Beatriz; Barroso, Alicia; Ferná ndez, Victoria; de la Hoya, Miguel; Rojo, Alejandro; Caldé s, Trinidad; Palacios, José ; Urioste, Miguel; Bení tez, Javier; Garcí a, Marí a J; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Research Center , C/Melchor Ferná ndez Almagro 3, Madrid 28029, Spain; Laboratorio de Oncologí a Molecular, Hospital Clí nico San Carlos, Instituto de Investig; (The British journal of cancer, v.117, 2017, pp.1048-1062)
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