The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies-Reference-Cited by-同舟云学术

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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

Published:2010-01 Issue:1 Volume:53 Page:40-44
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Gerkes Erica H.,van der Kevie-Kersemaekers Anne-Marie F.,Yakin Mariam,Smeets Dominique F.C.M.,van Ravenswaaij-Arts Conny M.A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference17 articles.

1. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome;Callier;Am. J. Med. Genet. A,2005

2. Cell cycle and centromere FISH studies in premature centromere division;Corona-Rivera;BMC Med. Genet.,2005

3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am. J. Hum. Genet.,2007

4. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity;Gordillo;Hum. Mol. Genet.,2008

5. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B;Hanks;Nat. Genet.,2004

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum;Frontiers in Cell and Developmental Biology;2022-11-16

2. Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2;Archives of Oral Biology;2020-11

3. Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations;Frontiers in Pediatrics;2019-05-28

4. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males;Molecular Genetics & Genomic Medicine;2018-11-16

5. Long‑term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature;Experimental and Therapeutic Medicine;2017-12-05

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