Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families-Reference-Cited by-同舟云学术

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Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

Published:2013-09-11 Issue:9 Volume:8 Page:e72195
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Romero Atocha,Garre Pilar,Valentin Olivia,Sanz Julian,Pérez-Segura Pedro,Llovet Patricia,Díaz-Rubio Eduardo,de la Hoya Miguel,Caldés Trinidad

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference29 articles.

1. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics;K Lagerstedt Robinson;J Natl Cancer Inst,2007

2. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer);HFA Vasen;J Med Genet,2007

3. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management;HT Lynch;Fam Cancer,2008

4. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer;HJ Järvinen;Gastroenterology,2000

5. MSH2 genomic deletions are a frequent cause of HNPCC;J Wijnen;Nat Genet,1998

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1. Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis;Expert Review of Molecular Diagnostics;2022-03-04

2. Report of a germline double heterozygote in MSH2 and PALB2;Molecular Genetics & Genomic Medicine;2020-08-27

3. Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins;Journal of Translational Medicine;2019-06-27

4. Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy;American Journal of Medical Genetics Part A;2018-12

5. Buccal dental-microwear and dietary ecology in a free-ranging population of mandrills (Mandrillus sphinx) from southern Gabon;PLOS ONE;2017-10-26

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