334 related articles for article (PubMed ID: 30459937)
21. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
Ingham D; Diggle CP; Berry I; Bristow CA; Hayward BE; Rahman N; Markham AF; Sheridan EG; Bonthron DT; Carr IM
Hum Mutat; 2013 Jun; 34(6):847-52. PubMed ID: 23483711
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R; Brekelmans C; Martin M; Bours V; Schamschula E; Amberger A; Muleris M; Colas C; Dekervel J; De Hertogh G; Coupier J; Colleye O; Sepulchre E; Burn J; Brems H; Legius E; Wimmer K
NPJ Precis Oncol; 2024 May; 8(1):119. PubMed ID: 38789506
[TBL] [Abstract][Full Text] [Related]
26. Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an
Rittberg R; Harlos C; Rothenmund H; Das A; Tabori U; Sinha N; Singh H; Chodirker B; Kim CA
Curr Oncol; 2021 Feb; 28(1):757-766. PubMed ID: 33535600
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. 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]
30. Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.
Siju J; Sahu A; Bhattacharya K; Prasad M; Sarin R; Gupta T
Indian J Radiol Imaging; 2024 Jul; 34(3):562-565. PubMed ID: 38912246
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H; Orenstein N; Sofrin E; Ruhrman-Shahar N; Amarilyo G; Basel-Salmon L; Shuldiner AR; Smirin-Yosef P; Aronson M; Al-Tarrah H; Bazak L; Gonzaga-Jauregui C; Tabori U; Wimmer K; Goldberg Y
J Med Genet; 2020 Jul; 57(7):505-508. PubMed ID: 31501241
[TBL] [Abstract][Full Text] [Related]
33. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
Mir A; AlMudhry M; AlOtaibi W; AlHazmi R; AlBaradie R; AlHarbi Q; Bashir S; Chamdine O; Housawi Y
J Pediatr Hematol Oncol; 2023 Jul; 45(5):e613-e620. PubMed ID: 36897649
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies.
Bin Naeem S; Ullah N; Jhatial MA; Muzaffar S; Abbas M; Iftikhar I; Jameel A; Masood Sheikh R
Cureus; 2023 Jul; 15(7):e41870. PubMed ID: 37581139
[TBL] [Abstract][Full Text] [Related]
36. Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome: A Case Report with Literature Review.
Basheer MI; Rana IA; Sheikh UN; Yusuf MA; Sindhu II; Loya A
J Cancer Allied Spec; 2022; 8(1):e443. PubMed ID: 37197747
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium.
Shimamura Y; Walsh CM; Cohen S; Aronson M; Tabori U; Kortan PP; Durno CA;
Endosc Int Open; 2018 Aug; 6(8):E1037-E1043. PubMed ID: 30105291
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
