These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 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. Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.
    Tan S; Wu X; Wang A; Ying L
    BMC Med Genomics; 2021 Jul; 14(1):184. PubMed ID: 34247610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.