155 related articles for article (PubMed ID: 36897649)
21. 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]
22. 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]
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. 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]
25. 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]
26. 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]
27. 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]
28. 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]
29. 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]
30. 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]
31. 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]
32. Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
Bush L; Aronson M; Tabori U; Campbell BB; Bedgood RB; Jasperson K
Fam Cancer; 2019 Jan; 18(1):105-108. PubMed ID: 29785566
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
Leenders EKSM; Westdorp H; Brüggemann RJ; Loeffen J; Kratz C; Burn J; Hoogerbrugge N; Jongmans MCJ
Eur J Hum Genet; 2018 Oct; 26(10):1417-1423. PubMed ID: 29904176
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. 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]
39. 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]
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]
