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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Autor: Jenny Douglas, Deirdre Cilliers, Kim Coleman, Katrina Tatton-Brown, Karen Barker, Brigitte Bernhard, John Burn, Susan Huson, Dragana Josifova, Didier Lacombe, Mohsin Malik, Sahar Mansour, Evan Reid, Valerie Cormier-Daire, Trevor Cole, The Childhood Overgrowth Collaboration, Nazneen Rahman

Publikováno v: Nature genetics. 39(8)

17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2055db9a874029e2eb162cf0c8d49295
http://ora.ox.ac.uk/objects/uuid:86b7f90b-7971-4439-a5f2-e5fab173e54a

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Autor: Tatton-Brown K; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.; Medical Genetics, St George's University of London, London, UK., Hanks S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Ruark E; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Zachariou A; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Del Vecchio Duarte S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Ramsay E; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Snape K; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Murray A; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Perdeaux ER; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Seal S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Loveday C; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Banka S; Genetic Medicine, University of Manchester, Manchester, UK., Clericuzio C; Pediatric Genetics, University of New Mexico, Albuquerque, USA., Flinter F; Clinical Genetics, Guy's and St Thomas' Foundation Trust, London, UK., Magee A; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., Patton M; Medical Genetics, St George's University of London, London, UK., Raith W; Division of Neonatology, Department of Paediatrics, Medical University, Graz, Austria., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter Foundation NHS Trust, Exeter, UK., Splitt M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Strenger V; Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria., Taylor C; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Wheeler P; Division of Genetics, Nemours Children's Clinic, Orlando, USA., Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Cole T; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK., Douglas J; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Rahman N; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.

Publikováno v: Oncotarget [Oncotarget] 2018 Nov 30; Vol. 9 (94), pp. 36719. Date of Electronic Publication: 2018 Nov 30 (Print Publication: 2018).

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Autor: Calcagni, Giulio¹ (AUTHOR) federicaferrigno94@gmail.com, Ferrigno, Federica^1,2 (AUTHOR) alessio.franceschini@opbg.net, Franceschini, Alessio¹ (AUTHOR) marcello.chinali@opbg.net, Dentici, Maria Lisa³ (AUTHOR) marialisa.dentici@opbg.net, Capolino, Rossella³ (AUTHOR) rossella.capolino@opbg.net, Sinibaldi, Lorenzo³ (AUTHOR) lorenzo.sinibaldi@opbg.net, Minotti, Chiara^4,5 (AUTHOR) alessia.micalizzi@opbg.net, Micalizzi, Alessia⁵ (AUTHOR) viola.alesi@opbg.net, Alesi, Viola⁵ (AUTHOR) antonio.novelli@opbg.net, Novelli, Antonio⁵ (AUTHOR), Baban, Anwar⁶ (AUTHOR) anwar.baban@opbg.net, Parlapiano, Giovanni⁶ (AUTHOR) giovanni.parlapiano@opbg.net, Coviello, Domenico⁷ (AUTHOR) domenicocoviello@gaslini.org, Versacci, Paolo⁸ (AUTHOR) paolo.versacci@uniroma1.it, Putotto, Carolina⁸ (AUTHOR) carolina.putotto@uniroma1.it, Chinali, Marcello¹ (AUTHOR) fabrizio.drago@opbg.net, Drago, Fabrizio¹ (AUTHOR), Bartuli, Andrea⁹ (AUTHOR) andrea.bartuli@opbg.net, Marino, Bruno⁸ (AUTHOR) bruno.marino@uniroma1.it, Digilio, Maria Cristina³ (AUTHOR) mcristina.digilio@opbg.net

Publikováno v: Diagnostics (2075-4418). Mar2024, Vol. 14 Issue 6, p594. 13p.