3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome-Reference-Cited by-同舟云学术

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Published:2014-09-30 Issue:1 Volume:7 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Dupont Celine,Bucourt Martine,Guimiot Fabien,Kraoua Lilia,Smiljkovski Daniel,Le Tessier Dominique,Lebugle Camille,Gerard Benedicte,Spaggiari Emmanuel,Bourdoncle Pierre,Tabet Anne-Claude,Benzacken Brigitte,Dupont Jean-Michel

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-014-0059-6.pdf

Reference33 articles.

1. Van Den Berg DJ, Francke U: Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 1993, 47: 1104–1123. 10.1002/ajmg.1320470735

2. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H: Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 2005, 37: 468–470. 10.1038/ng1548

3. Schule B, Oviedo A, Johnston K, Pai S, Francke U: Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet 2005, 77: 1117–1128. 10.1086/498695

4. Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G: A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. J Cell Physiol 2006, 209: 67–73. 10.1002/jcp.20708

5. Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P: Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn 2008, 28: 42–45. 10.1002/pd.1904

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