201 related articles for article (PubMed ID: 31501241)
21. [Constitutional MMR deficiency: Genetic bases and clinical implications].
Buecher B; Le Mentec M; Doz F; Bourdeaut F; Gauthier-Villars M; Stoppa-Lyonnet D; Colas C
Bull Cancer; 2019 Feb; 106(2):162-172. PubMed ID: 30551794
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F; Canet-Hermida J; Bianchi V; Chung J; Wimmer K; Foulkes W; Pérez-Alonso V; Domínguez-Pinilla N; Sábado C; Vázquez-Gómez F; Molinés A; Fioravantti V; Carrasco E; Stengs L; Edwards M; Negm L; Das A; Aronson M; Pastor Á; Rueda D; González-Granado LI; Tabori U; Capellá G; Pineda M
Clin Chem; 2024 May; 70(5):737-746. PubMed ID: 38531023
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
Mork ME; Borras E; Taggart MW; Cuddy A; Bannon SA; You YN; Lynch PM; Ramirez PT; Rodriguez-Bigas MA; Vilar E
Fam Cancer; 2016 Oct; 15(4):587-91. PubMed ID: 27017610
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L; Pasmant E; Muleris M; Abbou S; Adam-De-Beaumais T; Brugieres L; Cabaret O; Colas C; Cotteret S; Decq P; Dufour C; Guillerm E; Rouleau E; Varlet P; Zili S; Vidaud D; Grill J
J Med Genet; 2024 Jan; 61(2):158-162. PubMed ID: 37775264
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
Ripperger T; Schlegelberger B
Eur J Med Genet; 2016 Mar; 59(3):133-42. PubMed ID: 26743104
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
Bakry D; Aronson M; Durno C; Rimawi H; Farah R; Alharbi QK; Alharbi M; Shamvil A; Ben-Shachar S; Mistry M; Constantini S; Dvir R; Qaddoumi I; Gallinger S; Lerner-Ellis J; Pollett A; Stephens D; Kelies S; Chao E; Malkin D; Bouffet E; Hawkins C; Tabori U
Eur J Cancer; 2014 Mar; 50(5):987-96. PubMed ID: 24440087
[TBL] [Abstract][Full Text] [Related]
32. Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A; Meade J; Scheie D; Østrup O; Bertelsen B; Misiakou MA; Sarosiek T; Kessler E; Melchior LC; Munch-Petersen HF; Pai RK; Schmuth M; Gottschling H; Zschocke J; Gallon R; Wimmer K
Hum Mutat; 2022 Jan; 43(1):85-96. PubMed ID: 34816535
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.
AlHarbi M; Ali Mobark N; AlMubarak L; Aljelaify R; AlSaeed M; Almutairi A; Alqubaishi F; Hussain ME; Balbaid AAO; Said Marie A; AlSubaie L; AlShieban S; alTassan N; Ramkissoon SH; Abedalthagafi M
Oncologist; 2018 Dec; 23(12):1401-1406. PubMed ID: 30104292
[TBL] [Abstract][Full Text] [Related]
36. Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Chhabda S; Sudhakar S; Mankad K; Jorgensen M; Carceller F; Jacques TS; Merve A; Aizpurua M; Chalker J; Garimberti E; D'Arco F
Childs Nerv Syst; 2021 Jul; 37(7):2375-2379. PubMed ID: 33247381
[TBL] [Abstract][Full Text] [Related]
37. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson M; Colas C; Shuen A; Hampel H; Foulkes WD; Baris Feldman H; Goldberg Y; Muleris M; Wolfe Schneider K; McGee RB; Jasperson K; Rangaswami A; Brugieres L; Tabori U
J Med Genet; 2022 Apr; 59(4):318-327. PubMed ID: 33622763
[TBL] [Abstract][Full Text] [Related]
38. Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
Urganci N; Genc DB; Kose G; Onal Z; Vidin OO
Pediatrics; 2015 Oct; 136(4):e1047-50. PubMed ID: 26391938
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]
