167 related articles for article (PubMed ID: 31815888)
21. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N; Colas C; Muleris M; Bodo S; Duval A; Entz-Werle N; Coulet F; Cabaret O; Andreiuolo F; Charpy C; Sebille G; Wang Q; Lejeune S; Buisine MP; Leroux D; Couillault G; Leverger G; Fricker JP; Guimbaud R; Mathieu-Dramard M; Jedraszak G; Cohen-Hagenauer O; Guerrini-Rousseau L; Bourdeaut F; Grill J; Caron O; Baert-Dusermont S; Tinat J; Bougeard G; Frébourg T; Brugières L
J Med Genet; 2015 Nov; 52(11):770-8. PubMed ID: 26318770
[TBL] [Abstract][Full Text] [Related]
22. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M; Marín F; Puliafito B; Bonifaci N; Fernández A; Navarro M; Salvador H; Balaguer F; Iglesias S; Velasco A; Grau Garces E; Moreno V; Gonzalez-Granado LI; Guerra-García P; Ayala R; Florkin B; Kratz C; Ripperger T; Rosenbaum T; Januszkiewicz-Lewandowska D; Azizi AA; Ragab I; Nathrath M; Pander HJ; Lobitz S; Suerink M; Dahan K; Imschweiler T; Demirsoy U; Brunet J; Lázaro C; Rueda D; Wimmer K; Capellá G; Pineda M
J Med Genet; 2020 Apr; 57(4):269-273. PubMed ID: 31494577
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Tabori U; Hansford JR; Achatz MI; Kratz CP; Plon SE; Frebourg T; Brugières L
Clin Cancer Res; 2017 Jun; 23(11):e32-e37. PubMed ID: 28572265
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S; Yamasaki F; Kuraoka K; Taguchi A; Takayasu T; Akagi K; Hinoi T
BMC Med Genomics; 2023 Jan; 16(1):6. PubMed ID: 36647049
[TBL] [Abstract][Full Text] [Related]
28. [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].
Ilenčíková D
Klin Onkol; 2012; 25 Suppl():S34-8. PubMed ID: 22920205
[TBL] [Abstract][Full Text] [Related]
29. Germline
Lindsay H; Scollon S; Reuther J; Voicu H; Rednam SP; Lin FY; Fisher KE; Chintagumpala M; Adesina AM; Parsons DW; Plon SE; Roy A
Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31624068
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM; Mensenkamp AR; Drost M; Bik EC; Vos YJ; Gille HJ; Redeker BE; Tiersma Y; Zonneveld JB; García EG; Letteboer TG; Olderode-Berends MJ; van Hest LP; van Os TA; Verhoef S; Wagner A; van Asperen CJ; Ten Broeke SW; Hes FJ; de Wind N; Nielsen M; Devilee P; Ligtenberg MJ; Wijnen JT; Tops CM
Hum Mutat; 2016 Nov; 37(11):1162-1179. PubMed ID: 27435373
[TBL] [Abstract][Full Text] [Related]
32. Eruptive nevi in a patient with constitutional mismatch repair deficiency (CMMRD).
Vassantachart JM; Zacher NC; Teng JMC
Pediatr Dermatol; 2022 Jan; 39(1):91-93. PubMed ID: 34787334
[TBL] [Abstract][Full Text] [Related]
33. Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.
Yang C; Austin F; Richard H; Idowu M; Williamson V; Sabato F; Ferreira-Gonzalez A; Turner SA
Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31604779
[TBL] [Abstract][Full Text] [Related]
34. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA; Gallon R; Chen Y; Koch J; Keller M; Oberhuber K; Gomes A; Zschocke J; Burn J; Jackson MS; Santibanez-Koref M; Messiaen L; Wimmer K
Genet Med; 2020 Dec; 22(12):2081-2088. PubMed ID: 32773772
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.
Athanasiadis DI; Athanasiadou KI; Voulgaridou A; Zafeiriou DI; Kattamis A; Christodoulou DK; Papakonstantinou E
Acta Gastroenterol Belg; 2020; 83(3):479-481. PubMed ID: 33094597
[TBL] [Abstract][Full Text] [Related]
37. A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report.
Akabane S; Hinoi T; Akagi K; Yamamoto H; Sada H; Shimizu Y; Shimizu W; Sudo T; Onoe T; Ishiyama K; Suzuki T; Tazawa H; Hadano N; Misumi T; Kojima M; Kubota H; Taniyama D; Kuraoka K; Tashiro H
BMC Med Genet; 2020 Jul; 21(1):141. PubMed ID: 32611331
[TBL] [Abstract][Full Text] [Related]
38. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.
Westdorp H; Kolders S; Hoogerbrugge N; de Vries IJM; Jongmans MCJ; Schreibelt G
Cancer Lett; 2017 Sep; 403():159-164. PubMed ID: 28645564
[TBL] [Abstract][Full Text] [Related]
39. An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
Daou B; Zanello M; Varlet P; Brugieres L; Jabbour P; Caron O; Lavoine N; Dhermain F; Willekens C; Beuvon F; Malka D; Lechapt-Zalcmann E; Abi Lahoud G
Neurosurgery; 2015 Jul; 77(1):E145-52; discussion E152. PubMed ID: 25850602
[TBL] [Abstract][Full Text] [Related]
40. Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation.
Amayiri N; Al-Hussaini M; Swaidan M; Jaradat I; Qandeel M; Tabori U; Hawkins C; Musharbash A; Alsaad K; Bouffet E
Childs Nerv Syst; 2016 Mar; 32(3):553-7. PubMed ID: 26293676
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
