Information de reference pour ce titreAccession Number: | 00003049-201412000-00017.
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Author: | Baquero-Montoya, C. 1; Gil-Rodriguez, M. C. 1; Braunholz, D. 2; Teresa-Rodrigo, M. E. 1; Obieglo, C. 2; Gener, B. 3; Schwarzmayr, T. 4; Strom, T. M. 5; Gomez-Puertas, P. 6; Puisac, B. 1; Gillessen-Kaesbach, G. 7; Musio, A. 7; Ramos, F. J. 1,8; Kaiser, F. J. 2; Pie, J. 1
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Institution: | (1) Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain (2) Institut fur Humangenetik Lubeck, Universitat zu Lubeck, Lubeck, Germany (3) Servicio de Genetica, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, Spain (4) Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany (5) Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany (6) Molecular Modelling Group, Center of Molecular Biology "Severo Ochoa" (CSIC-UAM), Cantoblanco, Madrid, Spain (7) Institut fur Humangenetik, Universitat zu Lubeck, Germany (8) Istituto di Recerca Genetica e Biomedica, Consiglio Nazionale delle Recerche, Pisa, Italy
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Title: | |
Source: | Clinical Genetics. 86(6):595-597, December 2014.
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References: | 1. Manini L, Cucco F, Quarantotti V, Krantz I.D, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange Syndrome. Hum Mutat 2013.
2. Rohlin A, Wernersson J, Engwall Y, Wiklund L, Bjork J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat, 2009: 30: 1012-1020.
3. Huisman S, Redeker E, Maas S, Mannens M, Hennekam R. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet, 2013.
4. Castronovo P, Delahaye-Duriez A, Gervasini C. et al. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet, 2010: 78: 560-564.
5. Gervasini C, Parenti I, Picinelli C. et al. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. Eur J Med Genet, 2013.
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Language: | English.
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Document Type: | LETTERS TO THE EDITOR.
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Journal Subset: | Life & Biomedical Sciences.
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ISSN: | 0009-9163
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NLM Journal Code: | ddt, 0253664
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DOI Number: | https://dx.doi.org/10.1111/cge.1...- ouverture dans une nouvelle fenêtre
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