Zobrazeno 1 - 2
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pro vyhledávání: '"Deardoff MA"'
Autor:
Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID
Publikováno v:
American journal of human genetics 80 (2007): 485–494.
info:cnr-pdr/source/autori:Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID/titolo:Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation/doi:/rivista:American journal of human genetics/anno:2007/pagina_da:485/pagina_a:494/intervallo_pagine:485–494/volume:80
info:cnr-pdr/source/autori:Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID/titolo:Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation/doi:/rivista:American journal of human genetics/anno:2007/pagina_da:485/pagina_a:494/intervallo_pagine:485–494/volume:80
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::9d6b0f6552e08c7609471e95031520e9
https://publications.cnr.it/doc/55889
https://publications.cnr.it/doc/55889
Autor:
Basel-Vanagaite L; Medical Genetics Department, Schneider Children's Medical Center of Israel, Rabin Medical Center, Petah Tikva, Israel.; Felsenstein Medical Research Center, Petah Tikva, Israel.; Tel Aviv University, Tel Aviv, Israel.; FDNA Inc., Boston, MA, USA., Wolf L; Tel Aviv University, Tel Aviv, Israel.; FDNA Inc., Boston, MA, USA., Orin M; FDNA Inc., Boston, MA, USA., Larizza L; Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.; Department of Health Sciences, Medical Genetics, University of Milano, Milan, Italy., Gervasini C; Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.; Department of Health Sciences, Medical Genetics, University of Milano, Milan, Italy., Krantz ID; Division of Human Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Deardoff MA; Division of Human Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Clinical genetics [Clin Genet] 2016 May; Vol. 89 (5), pp. 557-63. Date of Electronic Publication: 2016 Jan 25.
