121 related articles for article (PubMed ID: 30968502)
1. The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M; Francisco I; Pinto C; Peixoto A; Veiga I; Filipe B; Santos C; Maia S; Silva J; Pinto P; Santos R; Claro I; Lage P; Lopes P; Ferreira S; Rosa I; Fonseca R; Rodrigues P; Henrique R; Chaves P; Pereira AD; Brandão C; Albuquerque C; Teixeira MR
Genes Chromosomes Cancer; 2019 Sep; 58(9):657-664. PubMed ID: 30968502
[TBL] [Abstract][Full Text] [Related]
2. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M; Pinto C; Peixoto A; Veiga I; Mesquita B; Henrique R; Lopes P; Sousa O; Fragoso M; Dias LM; Baptista M; Marinho C; Mangold E; Vaccaro C; Evans DG; Farrington S; Dunlop MG; Teixeira MR
Clin Genet; 2013 Sep; 84(3):244-50. PubMed ID: 23170986
[TBL] [Abstract][Full Text] [Related]
3. A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
Pinheiro M; Pinto C; Peixoto A; Veiga I; Mesquita B; Henrique R; Baptista M; Fragoso M; Sousa O; Pereira H; Marinho C; Moreira Dias L; Teixeira MR
Genet Med; 2011 Oct; 13(10):895-902. PubMed ID: 21785361
[TBL] [Abstract][Full Text] [Related]
4. Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
Pérez-Cabornero L; Borrás Flores E; Infante Sanz M; Velasco Sampedro E; Acedo Becares A; Lastra Aras E; Cuevas González J; Pineda Riu M; Ramón y Cajal Asensio T; Capellá Munar G; Miner Pino C; Durán Domínguez M
Cancer Prev Res (Phila); 2011 Oct; 4(10):1546-55. PubMed ID: 21778331
[TBL] [Abstract][Full Text] [Related]
5. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
Menéndez M; Castellví-Bel S; Pineda M; de Cid R; Muñoz J; González S; Teulé A; Balaguer F; Ramón y Cajal T; Reñé JM; Blanco I; Castells A; Capellà G
Clin Genet; 2010 Aug; 78(2):186-90. PubMed ID: 20095990
[TBL] [Abstract][Full Text] [Related]
6. Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.
Alvarez K; Hurtado C; Hevia MA; Wielandt AM; de la Fuente M; Church J; Carvallo P; López-Köstner F
Dis Colon Rectum; 2010 Apr; 53(4):450-9. PubMed ID: 20305446
[TBL] [Abstract][Full Text] [Related]
7. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
Vermaut C; Leclerc J; Vasseur F; Wacrenier A; Lovecchio T; Boidin D; Rebergue MH; Cattan S; Manouvrier S; Lejeune S; Buisine MP
Genes Chromosomes Cancer; 2020 Feb; 59(2):111-118. PubMed ID: 31433521
[TBL] [Abstract][Full Text] [Related]
8. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K; Rohlin A; Aravidis C; Melin B; Nordling M; Stenmark-Askmalm M; Lindblom A; Nilbert M
Oncol Rep; 2016 Nov; 36(5):2823-2835. PubMed ID: 27601186
[TBL] [Abstract][Full Text] [Related]
9. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
von Salomé J; Liu T; Keihäs M; Morak M; Holinski-Feder E; Berry IR; Moilanen JS; Baert-Desurmont S; Lindblom A; Lagerstedt-Robinson K
Fam Cancer; 2018 Oct; 17(4):531-537. PubMed ID: 29288294
[TBL] [Abstract][Full Text] [Related]
10. A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
Borelli I; Barberis MA; Spina F; Casalis Cavalchini GC; Vivanet C; Balestrino L; Micheletti M; Allavena A; Sala P; Carcassi C; Pasini B
Eur J Hum Genet; 2013 Feb; 21(2):154-61. PubMed ID: 22781090
[TBL] [Abstract][Full Text] [Related]
11. MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.
Chan TL; Chan YW; Ho JW; Chan C; Chan AS; Chan E; Lam PW; Tse CW; Lee KC; Lau CW; Gwi E; Leung SY; Yuen ST
Am J Hum Genet; 2004 May; 74(5):1035-42. PubMed ID: 15042510
[TBL] [Abstract][Full Text] [Related]
12. Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.
Ponti G; Manfredini M; Tomasi A; Pellacani G
Gene; 2016 Sep; 589(2):127-32. PubMed ID: 26143115
[TBL] [Abstract][Full Text] [Related]
13. Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
Sheng JQ; Chan TL; Chan YW; Huang JS; Chen JG; Zhang MZ; Guo XL; Mu H; Chan AS; Li SR; Yuen ST; Leung SY
Chin J Dig Dis; 2006; 7(4):197-205. PubMed ID: 17054581
[TBL] [Abstract][Full Text] [Related]
14. Origins and prevalence of the American Founder Mutation of MSH2.
Clendenning M; Baze ME; Sun S; Walsh K; Liyanarachchi S; Fix D; Schunemann V; Comeras I; Deacon M; Lynch JF; Gong G; Thomas BC; Thibodeau SN; Lynch HT; Hampel H; de la Chapelle A
Cancer Res; 2008 Apr; 68(7):2145-53. PubMed ID: 18381419
[TBL] [Abstract][Full Text] [Related]
15. Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
Pérez-Cabornero L; Infante Sanz M; Velasco Sampedro E; Lastra Aras E; Acedo Becares A; Miner Pino C; Durán Domínguez M
Cancer Prev Res (Phila); 2011 Oct; 4(10):1556-62. PubMed ID: 21791569
[TBL] [Abstract][Full Text] [Related]
16. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G; Castellsagué E; Ruini C; Percesepe A; Tomasi A
Clin Genet; 2015 Jun; 87(6):507-16. PubMed ID: 25345868
[TBL] [Abstract][Full Text] [Related]
17. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.
Lynch HT; Coronel SM; Okimoto R; Hampel H; Sweet K; Lynch JF; Barrows A; Wijnen J; van der Klift H; Franken P; Wagner A; Fodde R; de la Chapelle A
JAMA; 2004 Feb; 291(6):718-24. PubMed ID: 14871915
[TBL] [Abstract][Full Text] [Related]
18. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.
Froggatt NJ; Green J; Brassett C; Evans DG; Bishop DT; Kolodner R; Maher ER
J Med Genet; 1999 Feb; 36(2):97-102. PubMed ID: 10051005
[TBL] [Abstract][Full Text] [Related]
19. Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
Tang R; Hsiung C; Wang JY; Lai CH; Chien HT; Chiu LL; Liu CT; Chen HH; Wang HM; Chen SX; Hsieh LL;
Clin Genet; 2009 Apr; 75(4):334-45. PubMed ID: 19419416
[TBL] [Abstract][Full Text] [Related]
20. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Mur P; Pineda M; Romero A; Del Valle J; Borràs E; Canal A; Navarro M; Brunet J; Rueda D; Ramón Y Cajal T; Lázaro C; Caldés T; Blanco I; Soto JL; Capellá G
Clin Genet; 2014 Mar; 85(3):260-6. PubMed ID: 23530899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]