Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome-Reference-Cited by-同舟云学术

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Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

Published:2010-01-20 Issue:2 Volume:78 Page:186-190
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Menéndez M,Castellví-Bel S,Pineda M,De Cid R,Muñoz J,González S,Teulé À,Balaguer F,Ramón y Cajal T,Reñé Josep M.,Blanco I,Castells A,Capellà G

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01346.x/fullpdf

Reference20 articles.

1. Hereditary colorectal cancer;Lynch;N Engl J Med,2003

2. The incidence of Lynch syndrome;De La Chapelle;Fam Cancer,2005

3. A new variant database for mismatch repair genes associated with Lynch syndrome;Woods;Hum Mutat,2007

4. Germline PMS2 mutations: one hit or two?;Gryfe;Gastroenterology,2005

5. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome;Clendenning;J Med Genet,2008

Cited by 11 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. Exonic splicing code and coordination of divalent metals in proteins;Nucleic Acids Research;2023-12-06

2. The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome;Japanese Journal of Clinical Oncology;2019-03-18

3. Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex;Scientific Reports;2019-03-14

4. Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome;The International Journal of Biological Markers;2018-04-24

5. Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome;Cancer Genetics;2017-04

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