153 related articles for article (PubMed ID: 33094597)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. [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]
7. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R; Phelps R; Hayes C; Brugieres L; Guerrini-Rousseau L; Colas C; Muleris M; Ryan NAJ; Evans DG; Grice H; Jessop E; Kunzemann-Martinez A; Marshall L; Schamschula E; Oberhuber K; Azizi AA; Baris Feldman H; Beilken A; Brauer N; Brozou T; Dahan K; Demirsoy U; Florkin B; Foulkes W; Januszkiewicz-Lewandowska D; Jones KJ; Kratz CP; Lobitz S; Meade J; Nathrath M; Pander HJ; Perne C; Ragab I; Ripperger T; Rosenbaum T; Rueda D; Sarosiek T; Sehested A; Spier I; Suerink M; Zimmermann SY; Zschocke J; Borthwick GM; Wimmer K; Burn J; Jackson MS; Santibanez-Koref M
Gastroenterology; 2023 Apr; 164(4):579-592.e8. PubMed ID: 36586540
[TBL] [Abstract][Full Text] [Related]
8. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen AY; Lanni S; Panigrahi GB; Edwards M; Yu L; Campbell BB; Mandel A; Zhang C; Zhukova N; Alharbi M; Bernstein M; Bowers DC; Carroll S; Cole KA; Constantini S; Crooks B; Dvir R; Farah R; Hijiya N; George B; Laetsch TW; Larouche V; Lindhorst S; Luiten RC; Magimairajan V; Mason G; Mason W; Mordechai O; Mushtaq N; Nicholas G; Oren M; Palma L; Pedroza LA; Ramdas J; Samuel D; Wolfe Schneider K; Seeley A; Semotiuk K; Shamvil A; Sumerauer D; Toledano H; Tomboc P; Wierman M; Van Damme A; Lee YY; Zapotocky M; Bouffet E; Durno C; Aronson M; Gallinger S; Foulkes WD; Malkin D; Tabori U; Pearson CE
J Clin Oncol; 2019 Feb; 37(6):461-470. PubMed ID: 30608896
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.
Hizuka K; Hagiwara SI; Maeyama T; Honma H; Kawai M; Akagi K; Yasuhara M; Tomita N; Etani Y
BMC Gastroenterol; 2021 Feb; 21(1):60. PubMed ID: 33568103
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Wimmer K; Rosenbaum T; Messiaen L
Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Krüger S; Kinzel M; Walldorf C; Gottschling S; Bier A; Tinschert S; von Stackelberg A; Henn W; Görgens H; Boue S; Kölble K; Büttner R; Schackert HK
Eur J Hum Genet; 2008 Jan; 16(1):62-72. PubMed ID: 17851451
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
