187 related articles for article (PubMed ID: 25431869)
21. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K; Kratz CP; Vasen HF; Caron O; Colas C; Entz-Werle N; Gerdes AM; Goldberg Y; Ilencikova D; Muleris M; Duval A; Lavoine N; Ruiz-Ponte C; Slavc I; Burkhardt B; Brugieres L;
J Med Genet; 2014 Jun; 51(6):355-65. PubMed ID: 24737826
[TBL] [Abstract][Full Text] [Related]
22. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.
Ripperger T; Beger C; Rahner N; Sykora KW; Bockmeyer CL; Lehmann U; Kreipe HH; Schlegelberger B
Haematologica; 2010 May; 95(5):841-4. PubMed ID: 20015892
[TBL] [Abstract][Full Text] [Related]
23. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
Levi Z; Kariv R; Barnes-Kedar I; Goldberg Y; Half E; Morgentern S; Eli B; Baris HN; Vilkin A; Belfer RG; Niv Y; Elhasid R; Dvir R; Abu-Freha N; Cohen S
Clin Genet; 2015 Nov; 88(5):474-8. PubMed ID: 25307252
[TBL] [Abstract][Full Text] [Related]
24. Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
Ando T; Nakajima T; Fukuda R; Nomura K; Niida Y; Sakumura M; Motoo I; Mihara H; Nanjo S; Kajiura S; Fujinami H; Hojo S; Fujii T; Yasuda I
BMC Gastroenterol; 2021 Aug; 21(1):326. PubMed ID: 34425783
[TBL] [Abstract][Full Text] [Related]
25. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M; Ripperger T; Messiaen L; Menko FH; Bourdeaut F; Colas C; Jongmans M; Goldberg Y; Nielsen M; Muleris M; van Kouwen M; Slavc I; Kratz C; Vasen HF; Brugiѐres L; Legius E; Wimmer K
J Med Genet; 2019 Feb; 56(2):53-62. PubMed ID: 30415209
[TBL] [Abstract][Full Text] [Related]
26. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R; Mühlegger B; Wenzel SS; Sheth H; Hayes C; Aretz S; Dahan K; Foulkes W; Kratz CP; Ripperger T; Azizi AA; Baris Feldman H; Chong AL; Demirsoy U; Florkin B; Imschweiler T; Januszkiewicz-Lewandowska D; Lobitz S; Nathrath M; Pander HJ; Perez-Alonso V; Perne C; Ragab I; Rosenbaum T; Rueda D; Seidel MG; Suerink M; Taeubner J; Zimmermann SY; Zschocke J; Borthwick GM; Burn J; Jackson MS; Santibanez-Koref M; Wimmer K
Hum Mutat; 2019 May; 40(5):649-655. PubMed ID: 30740824
[TBL] [Abstract][Full Text] [Related]
27. Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
Elhasid R; Dvir R; Rosenfeld Keidar H; Ben Shachar S; Bitan M; Solar I; Durno C; Aronson M; Malkin D; Hawkins C; Bouffet E; Tabori U;
J Pediatr Hematol Oncol; 2015 Nov; 37(8):e490-3. PubMed ID: 26274037
[TBL] [Abstract][Full Text] [Related]
28. Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.
Winter K; Tan M; Briscoe E; Hyde A; Daniel Stanley J
Am Surg; 2023 Sep; 89(9):3953-3955. PubMed ID: 37260094
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).
Citak EC; Sagcan F; Gundugan BD; Bozdogan ST; Yilmaz EB; Avci E; Balci Y; Karabulut YY
J Pediatr Hematol Oncol; 2021 Mar; 43(2):e198-e202. PubMed ID: 31815888
[TBL] [Abstract][Full Text] [Related]
31. Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
Alexander TB; McGee RB; Kaye EC; McCarville MB; Choi JK; Cavender CP; Nichols KE; Sandlund JT
Pediatr Blood Cancer; 2016 Aug; 63(8):1454-6. PubMed ID: 27037742
[TBL] [Abstract][Full Text] [Related]
32. Small cell carcinoma: arising in Lynch syndrome: a previously undocumented occurrence.
Oman SA; Ballinger L; Cerilli LA
Int J Surg Pathol; 2009 Feb; 17(1):46-50. PubMed ID: 18480399
[TBL] [Abstract][Full Text] [Related]
33. Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.
Hizuka K; Hagiwara SI; Maeyama T; Honma H; Kawai M; Akagi K; Yasuhara M; Tomita N; Etani Y
BMC Gastroenterol; 2021 Feb; 21(1):60. PubMed ID: 33568103
[TBL] [Abstract][Full Text] [Related]
34. Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.
Farah RA; Maalouf F; Chahine NA; Farhat H; Campbell B; Zhukova N; Durno C; Aronson M; Hawkins C; Bouffet E; Tabori U
Eur J Med Genet; 2019 Aug; 62(8):103706. PubMed ID: 31233827
[TBL] [Abstract][Full Text] [Related]
35. Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.
Gupta A; George R; Aboobacker FN; ThamaraiSelvi B; Priscilla AJ
Pediatr Dermatol; 2020 Nov; 37(6):1139-1141. PubMed ID: 32876971
[TBL] [Abstract][Full Text] [Related]
36. Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation.
Leung SY; Yuen ST; Chan TL; Chan AS; Ho JW; Kwan K; Fan YW; Hung KN; Chung LP; Wyllie AH
Oncogene; 2000 Aug; 19(35):4079-83. PubMed ID: 10962567
[TBL] [Abstract][Full Text] [Related]
37. Immunohistochemistry testing for mismatch repair deficiency in Stage 2 colon cancer: A cohort study of two cancer centres.
Grant M; Haydon A; Au L; Wilkins S; Oliva K; Segelov E; Antill Y; Carne P; Ranchod P; Polglase A; Farmer C; Chin M; Wale R; Simpson P; Bell S; Skinner S; McMurrick P; Shapiro J
Int J Surg; 2018 Mar; 51():71-75. PubMed ID: 29367039
[TBL] [Abstract][Full Text] [Related]
38. Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.
Durno C; Boland CR; Cohen S; Dominitz JA; Giardiello FM; Johnson DA; Kaltenbach T; Levin TR; Lieberman D; Robertson DJ; Rex DK
Gastroenterology; 2017 May; 152(6):1605-1614. PubMed ID: 28363489
[TBL] [Abstract][Full Text] [Related]
39. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.
Scott RH; Mansour S; Pritchard-Jones K; Kumar D; MacSweeney F; Rahman N
Nat Clin Pract Oncol; 2007 Feb; 4(2):130-4. PubMed ID: 17259933
[TBL] [Abstract][Full Text] [Related]
40. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
Netravathi M; Kumari R; Kapoor S; Dakle P; Dwivedi MK; Roy SD; Pandey P; Saini J; Ramakrishna A; Navalli D; Satishchandra P; Pal PK; Kumar A; Faruq M
BMC Med Genet; 2015 Feb; 16():5. PubMed ID: 25928698
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]