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24. 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]
29. 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]
30. 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]
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32. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome. Westdorp H; Kolders S; Hoogerbrugge N; de Vries IJM; Jongmans MCJ; Schreibelt G Cancer Lett; 2017 Sep; 403():159-164. PubMed ID: 28645564 [TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. 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]
36. Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report. Ando T; Nakajima T; Fukuda R; Nomura K; Niida Y; Sakumura M; Motoo I; Mihara H; Nanjo S; Kajiura S; Fujinami H; Hojo S; Fujii T; Yasuda I BMC Gastroenterol; 2021 Aug; 21(1):326. PubMed ID: 34425783 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
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40. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Taeubner J; Wimmer K; Muleris M; Lascols O; Colas C; Fauth C; Brozou T; Felsberg J; Riemer J; Gombert M; Ginzel S; Hoell JI; Borkhardt A; Kuhlen M Eur J Hum Genet; 2018 Mar; 26(3):440-444. PubMed ID: 29302048 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]