228 related articles for article (PubMed ID: 25850602)
21. 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]
22. Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous
Akrout F; Achour A; Tops CMJ; Gallon R; Meddeb R; Achoura S; Ben Rekaya M; Hamdeni E; Rammeh S; Chkili R; Mansouri N; Belguith N; Mrad R
Front Oncol; 2023; 13():1195814. PubMed ID: 37664053
[TBL] [Abstract][Full Text] [Related]
23. Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD).
Soplepmann J; Laidre P
Acta Oncol; 2016 Dec; 55(12):1503-1505. PubMed ID: 27723366
[No Abstract] [Full Text] [Related]
24. The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
Shapira Rootman M; Goldberg Y; Cohen R; Kropach N; Keidar I; Friedland R; Dotan G; Konen O; Toledano H
Clin Genet; 2020 Feb; 97(2):296-304. PubMed ID: 31730237
[TBL] [Abstract][Full Text] [Related]
25. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.
Carrato C; Sanz C; Muñoz-Mármol AM; Blanco I; Pineda M; Del Valle J; Dámaso E; Esteller M; Musulen E
Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33924881
[TBL] [Abstract][Full Text] [Related]
26. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Bodo S; Colas C; Buhard O; Collura A; Tinat J; Lavoine N; Guilloux A; Chalastanis A; Lafitte P; Coulet F; Buisine MP; Ilencikova D; Ruiz-Ponte C; Kinzel M; Grandjouan S; Brems H; Lejeune S; Blanché H; Wang Q; Caron O; Cabaret O; Svrcek M; Vidaud D; Parfait B; Verloes A; Knappe UJ; Soubrier F; Mortemousque I; Leis A; Auclair-Perrossier J; Frébourg T; Fléjou JF; Entz-Werle N; Leclerc J; Malka D; Cohen-Haguenauer O; Goldberg Y; Gerdes AM; Fedhila F; Mathieu-Dramard M; Hamelin R; Wafaa B; Gauthier-Villars M; Bourdeaut F; Sheridan E; Vasen H; Brugières L; Wimmer K; Muleris M; Duval A;
Gastroenterology; 2015 Oct; 149(4):1017-29.e3. PubMed ID: 26116798
[TBL] [Abstract][Full Text] [Related]
27. 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]
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. Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.
Kerpel A; Yalon M; Soudack M; Chiang J; Gajjar A; Nichols KE; Patay Z; Shrot S; Hoffmann C
AJNR Am J Neuroradiol; 2020 May; 41(5):904-910. PubMed ID: 32354708
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies.
Abedalthagafi M
Oncotarget; 2018 Oct; 9(83):35458-35469. PubMed ID: 30459937
[TBL] [Abstract][Full Text] [Related]
32. Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.
Özyörük D; Cabı EÜ; Taçyıldız N; Pınarlı F; Erdoğan AO; Hanalioğlu Ş; Erdem AY; Demir AM
Turk J Pediatr; 2021; 63(5):893-902. PubMed ID: 34738371
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
Suerink M; Potjer TP; Versluijs AB; Ten Broeke SW; Tops CM; Wimmer K; Nielsen M
Clin Genet; 2018 Jan; 93(1):134-137. PubMed ID: 28503822
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Non-Hodgkin's Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome.
Shaukat Z; Wali R
Cureus; 2020 Dec; 12(12):e12092. PubMed ID: 33489510
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
Baig SM; Fatima A; Tariq M; Khan TN; Ali Z; Faheem M; Mahmood H; Killela P; Waitkus M; He Y; Zhao F; Wang S; Jiao Y; Yan H
Fam Cancer; 2019 Apr; 18(2):261-265. PubMed ID: 30478739
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
Shiran SI; Ben-Sira L; Elhasid R; Roth J; Tabori U; Yalon M; Constantini S; Dvir R
AJNR Am J Neuroradiol; 2018 Oct; 39(10):1943-1946. PubMed ID: 30166433
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
