153 related articles for article (PubMed ID: 16144131)
1. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
Agostini M; Tibiletti MG; Lucci-Cordisco E; Chiaravalli A; Morreau H; Furlan D; Boccuto L; Pucciarelli S; Capella C; Boiocchi M; Viel A
Am J Gastroenterol; 2005 Aug; 100(8):1886-91. PubMed ID: 16144131
[TBL] [Abstract][Full Text] [Related]
2. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
De Rosa M; Fasano C; Panariello L; Scarano MI; Belli G; Iannelli A; Ciciliano F; Izzo P
Oncogene; 2000 Mar; 19(13):1719-23. PubMed ID: 10763829
[TBL] [Abstract][Full Text] [Related]
3. Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
Jackson CC; Holter S; Pollett A; Clendenning M; Chou S; Senter L; Ramphal R; Gallinger S; Boycott K
Pediatr Blood Cancer; 2008 Jun; 50(6):1268-70. PubMed ID: 18273873
[TBL] [Abstract][Full Text] [Related]
4. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
Ramchander NC; Ryan NA; Crosbie EJ; Evans DG
BMC Med Genet; 2017 Apr; 18(1):40. PubMed ID: 28381238
[TBL] [Abstract][Full Text] [Related]
5. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Krüger S; Kinzel M; Walldorf C; Gottschling S; Bier A; Tinschert S; von Stackelberg A; Henn W; Görgens H; Boue S; Kölble K; Büttner R; Schackert HK
Eur J Hum Genet; 2008 Jan; 16(1):62-72. PubMed ID: 17851451
[TBL] [Abstract][Full Text] [Related]
6. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN; Barnes-Kedar I; Toledano H; Halpern M; Hershkovitz D; Lossos A; Lerer I; Peretz T; Kariv R; Cohen S; Half EE; Magal N; Drasinover V; Wimmer K; Goldberg Y; Bercovich D; Levi Z
Pediatr Blood Cancer; 2016 Mar; 63(3):418-27. PubMed ID: 26544533
[TBL] [Abstract][Full Text] [Related]
7. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
Leenen CH; Geurts-Giele WR; Dubbink HJ; Reddingius R; van den Ouweland AM; Tops CM; van de Klift HM; Kuipers EJ; van Leerdam ME; Dinjens WN; Wagner A
Clin Genet; 2011 Dec; 80(6):558-65. PubMed ID: 21204794
[TBL] [Abstract][Full Text] [Related]
8. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
Will O; Carvajal-Carmona LG; Gorman P; Howarth KM; Jones AM; Polanco-Echeverry GM; Chinaleong JA; Günther T; Silver A; Clark SK; Tomlinson I
Gastroenterology; 2007 Feb; 132(2):527-30. PubMed ID: 17258725
[TBL] [Abstract][Full Text] [Related]
9. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
Auclair J; Leroux D; Desseigne F; Lasset C; Saurin JC; Joly MO; Pinson S; Xu XL; Montmain G; Ruano E; Navarro C; Puisieux A; Wang Q
Hum Mutat; 2007 Nov; 28(11):1084-90. PubMed ID: 17557300
[TBL] [Abstract][Full Text] [Related]
10. A homozygous mutation in MSH6 causes Turcot syndrome.
Hegde MR; Chong B; Blazo ME; Chin LH; Ward PA; Chintagumpala MM; Kim JY; Plon SE; Richards CS
Clin Cancer Res; 2005 Jul; 11(13):4689-93. PubMed ID: 16000562
[TBL] [Abstract][Full Text] [Related]
11. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
Gallinger S; Aronson M; Shayan K; Ratcliffe EM; Gerstle JT; Parkin PC; Rothenmund H; Croitoru M; Baumann E; Durie PR; Weksberg R; Pollett A; Riddell RH; Ngan BY; Cutz E; Lagarde AE; Chan HS
Gastroenterology; 2004 Feb; 126(2):576-85. PubMed ID: 14762794
[TBL] [Abstract][Full Text] [Related]
12. Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.
Sağ E; Erkut M; Saygin İ; Çebi AH; Bahadir A; Erduran E; Saruhan H; Cakir M
J Pediatr Hematol Oncol; 2020 Oct; 42(7):e689-e691. PubMed ID: 31599855
[TBL] [Abstract][Full Text] [Related]
13. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC; Niessen RC; Olderode-Berends MJ; Veenstra-Knol HE; Vos YJ; van der Klift HM; Scheenstra R; Tops CM; Karrenbeld A; Peters FT; Hofstra RM; Kleibeuker JH; Sijmons RH
Eur J Cancer; 2011 May; 47(7):965-82. PubMed ID: 21376568
[TBL] [Abstract][Full Text] [Related]
14. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L; Hamel N; Baker K; McGuffin MJ; Couillard M; Gologan A; Marcus VA; Chodirker B; Chudley A; Stefanovici C; Durandy A; Hegele RA; Feng BJ; Goldgar DE; Zhu J; De Rosa M; Gruber SB; Wimmer K; Young B; Chong G; Tischkowitz MD; Foulkes WD
J Med Genet; 2015 May; 52(5):348-52. PubMed ID: 25691505
[TBL] [Abstract][Full Text] [Related]
15. Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.
Tan TY; Orme LM; Lynch E; Croxford MA; Dow C; Dewan PA; Lipton L
J Pediatr Hematol Oncol; 2008 Mar; 30(3):254-7. PubMed ID: 18376293
[TBL] [Abstract][Full Text] [Related]
16. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
De Vos M; Hayward BE; Picton S; Sheridan E; Bonthron DT
Am J Hum Genet; 2004 May; 74(5):954-64. PubMed ID: 15077197
[TBL] [Abstract][Full Text] [Related]
17. PMS2 mutations in childhood cancer.
De Vos M; Hayward BE; Charlton R; Taylor GR; Glaser AW; Picton S; Cole TR; Maher ER; McKeown CM; Mann JR; Yates JR; Baralle D; Rankin J; Bonthron DT; Sheridan E
J Natl Cancer Inst; 2006 Mar; 98(5):358-61. PubMed ID: 16507833
[TBL] [Abstract][Full Text] [Related]
18. Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation.
Kratz CP; Niemeyer CM; Jüttner E; Kartal M; Weninger A; Schmitt-Graeff A; Kontny U; Lauten M; Utzolino S; Rädecke J; Fonatsch C; Wimmer K
Leukemia; 2008 May; 22(5):1078-80. PubMed ID: 18007577
[No Abstract] [Full Text] [Related]
19. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Hendriks YM; Jagmohan-Changur S; van der Klift HM; Morreau H; van Puijenbroek M; Tops C; van Os T; Wagner A; Ausems MG; Gomez E; Breuning MH; Bröcker-Vriends AH; Vasen HF; Wijnen JT
Gastroenterology; 2006 Feb; 130(2):312-22. PubMed ID: 16472587
[TBL] [Abstract][Full Text] [Related]
20. A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
Menko FH; Kaspers GL; Meijer GA; Claes K; van Hagen JM; Gille JJ
Fam Cancer; 2004; 3(2):123-7. PubMed ID: 15340263
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
