Could a patient withSMC1Aduplication be classified as a human cohesinopathy?-Reference-Cited by-同舟云学术

Could a patient withSMC1Aduplication be classified as a human cohesinopathy?

Published:2013-06-17 Issue:5 Volume:85 Page:446-451
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Baquero-Montoya C.¹²,Gil-Rodríguez M.C.¹,Teresa-Rodrigo M.E.¹,Hernández-Marcos M.¹,Bueno-Lozano G.²,Bueno-Martínez I.¹²,Remeseiro S.³,Fernández-Hernández R.⁴,Bassecourt-Serra M.⁵,Rodríguez de Alba M.⁶,Queralt E.⁴,Losada A.³,Puisac B.¹,Ramos F.J.¹²,Pié J.¹

Affiliation:

1. Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, Medical School; University of Zaragoza; Zaragoza Spain

2. Service of Pediatrics; Hospital Clínico Universitario “Lozano Blesa”; Zaragoza Spain

3. Chromosome Dynamics Group, Molecular Oncology Programme; Spanish National Cancer Research Center (CNIO); Madrid Spain

4. Cell Cycle Group, Cancer Epigenetics and Biology Program (PEBC); Institut d'Investigacions Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat; Barcelona Spain

5. Department of Molecular Genetics; Hospital Universitario “Miguel Servet”; Zaragoza Spain

6. Department of Genetics; Fundación Jiménez Díaz; Madrid Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Cornelia de Lange syndrome, cohesin, and beyond;Liu;Clin Genet,2009

2. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease;Mannini;Hum Mutat,2010

3. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance;Kline;Am J Med Genet A,2007

4. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B;Krantz;Nat Genet,2004

5. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome;Tonkin;Nat Genet,2004

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