المؤلفون: Sonderby, IE, Ching, CRK, Thomopoulos, SI, van der Meer, D, Sun, DQ, Villalon-Reina, JE, Agartz, I, Amunts, K, Arango, C, Armstrong, NJ, Ayesa-Arriola, R, Bakker, G, Bassett, AS, Boomsma, DI, Bulow, R, Butcher, NJ, Calhoun, VD, Caspers, S, Chow, EWC, Cichon, S, Ciufolini, S, Craig, MC, Crespo-Facorro, B, Cunningham, AC, Dale, AM, Dazzan, P, de Zubicaray, GI, Djurovic, S, Doherty, JL, Donohoe, G, Draganski, B, Durdle, CA, Ehrlich, S, Emanuel, BS, Espeseth, T, Fisher, SE, Ge, T, Glahn, DC, Grabe, HJ, Gur, RE, Gutman, BA, Haavik, J, Haberg, AK, Hansen, LA, Hashimoto, R, Hibar, DP, Holmes, AJ, Hottenga, JJ, Pol, HHE, Jalbrzikowski, M, Knowles, EEM, Kushan, L, Linden, DEJ, Liu, JY, Lundervold, AJ, Martin-Brevet, S, Martinez, K, Mather, KA, Mathias, SR, McDonald-McGinn, DM, McRae, AF, Medland, SE, Moberget, T, Modenato, C, Sanchez, JM, Moreau, CA, Muhleisen, TW, Paus, T, Pausova, Z, Prieto, C, Ragothaman, A, Reinbold, CS, Marques, TR, Repetto, GM, Reymond, A, Roalf, DR, Rodriguez-Herreros, B, Rucker, JJ, Sachdev, PS, Schmitt, JE, Schofield, PR, Silva, AI, Stefansson, H, Stein, DJ, Tamnes, CK, Tordesillas-Gutierrez, D, Ulfarsson, MO, Vajdi, A, van 't Ent, D, van den Bree, MBM, Vassos, E, Vazquez-Bourgon, J, Vila-Rodriguez, F, Walters, GB, Wen, W, Westlye, LT, Wittfeld, K, Zackai, EH, Stefansson, K, Jacquemont, S, Thompson, PM, Bearden, CE, Andreassen, OA

المصدر: Human brain mapping. 43(1):300-328

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145984335

المؤلفون: Guo, T, Repetto, GM, McDonald McGinn, DM, Chung, JH, Nomaru, H, Campbell, CL, Blonska, A, Bassett, AS, Chow, EWC, Mlynarski, EE, Swillen, A, Vermeesch, J, Devriendt, K, Gothelf, D, Carmel, M, Michaelovsky, E, Schneider, M, Eliez, S, Antonarakis, SE, Coleman, K, Tomita-Mitchell, A, Mitchell, ME, Digilio, MC, Dallapiccola, B, Marino, B, Philip, N, Busa, T, Kushan-Wells, L, Bearden, CE, Piotrowicz, M, Hawuła, W, Roberts, AE, Tassone, F, Simon, TJ, Van Duin, EDA, Van Amelsvoort, TA, Kates, WR, Zackai, E, Johnston, HR, Cutler, DJ, Agopian, AJ, Goldmuntz, E, Mitchell, LE, Wang, T, Emanuel, BS, Morrow, BE

المصدر: Guo, T; Repetto, GM; McDonald McGinn, DM; Chung, JH; Nomaru, H; Campbell, CL; et al.(2017). Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation: Cardiovascular Genetics, 10(5). doi: 10.1161/CIRCGENETICS.116.001690. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/7hp1507k

مصطلحات موضوعية: International 22q11.2 Consortium/Brain and Behavior Consortium

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::e7bc9daed0c704ea95eb91352a5daaf0
http://www.escholarship.org/uc/item/7hp1507k

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المؤلفون: Alpaslan M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium., Fastré E; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium., Mestre S; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France., van Haeringen A; Leiden University Medical Center, Albinusdreef 2, Leiden 2333, the Netherlands., Repetto GM; Clinica Alemana Universidad del Desarrollo, Av Plaza 680, Las Condes, Lo Barnechea, Región Metropolitana 7710167, Chile., Keymolen K; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, Brussels 1090, Belgium., Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium., Belva F; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium., Giacalone G; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium., Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium., Riches K; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom., Keeley V; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom.; University of Nottingham Medical School, Nottingham, East Block, Lenton, Nottingham NG7 2UH, United Kingdom., Mansour S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; South West Thames Regional Centre for Genomics, St. George's Universities Hospitals NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom., Gordon K; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Dermatology and Lymphovascular Medicine, St. George's Universities NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom., Martin-Almedina S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom., Dobbins S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom., Ostergaard P; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom., Quere I; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France., Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium., Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, Wavre 1300, Belgium.

المصدر: Human molecular genetics [Hum Mol Genet] 2024 Jul 06; Vol. 33 (14), pp. 1250-1261.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hepatocyte Growth Factor*/genetics , Hepatocyte Growth Factor*/metabolism , Lymphedema*/genetics , Lymphedema*/pathology, Humans ; Male ; Female ; Child ; Adult ; Adolescent ; Middle Aged ; Animals ; Mutation, Missense/genetics ; Loss of Function Mutation ; Age of Onset ; Child, Preschool ; COS Cells ; Chlorocebus aethiops ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Young Adult