Terms: = Lymphoma AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
23 results:
1. Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.
Samborska M; Galli D; Achkar R; Thambyrajah S; Derwich K
J Pediatr Hematol Oncol; 2023 Oct; 45(7):e917-e920. PubMed ID: 37526375
[TBL] [Abstract] [Full Text] [Related]
2. 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]
3. Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
Laish I; Friedman E; Levi-Reznick G; Kedar I; Katz L; Levi Z; Halpern N; Parnasa S; Abu-Shatya A; Half E; Goldberg Y
Breast Cancer Res Treat; 2021 Aug; 188(3):685-694. PubMed ID: 34086170
[TBL] [Abstract] [Full Text] [Related]
4. Clinicopathological features and risk factors for developing colorectal neoplasia in Hodgkin's lymphoma survivors.
Ykema BLM; Rigter LS; Spaander MCW; Moons LMG; Bisseling TM; Aleman BMP; Dekker E; Verbeek WHM; Kuipers EJ; de Boer JP; Lugtenburg PJ; Janus CPM; Petersen EJ; Roesink JM; van der Maazen RWM; Meijer GA; Schaapveld M; van Leeuwen FE; Carvalho B; Snaebjornsson P; van Leerdam ME
Dig Endosc; 2022 Jan; 34(1):163-170. PubMed ID: 33928678
[TBL] [Abstract] [Full Text] [Related]
5. Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
Li B; Brady SW; Ma X; Shen S; Zhang Y; Li Y; Szlachta K; Dong L; Liu Y; Yang F; Wang N; Flasch DA; Myers MA; Mulder HL; Ding L; Liu Y; Tian L; Hagiwara K; Xu K; Zhou X; Sioson E; Wang T; Yang L; Zhao J; Zhang H; Shao Y; Sun H; Sun L; Cai J; Sun HY; Lin TN; Du L; Li H; Rusch M; Edmonson MN; Easton J; Zhu X; Zhang J; Cheng C; Raphael BJ; Tang J; Downing JR; Alexandrov LB; Zhou BS; Pui CH; Yang JJ; Zhang J
Blood; 2020 Jan; 135(1):41-55. PubMed ID: 31697823
[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. ALK-positive gastric inflammatory myofibroblastic tumor in an adult with familial adenomatous polyposis and diffuse fundic polyposis.
Fan J; Huang B; Yang X; Yang M; He J; Nie X
Diagn Pathol; 2017 Sep; 12(1):68. PubMed ID: 28923119
[TBL] [Abstract] [Full Text] [Related]
8. Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P; Kunz JB; Hof J; Zimmermann M; Rausch T; Bandapalli OR; Orlova E; Scapinello G; Sagi JC; Stanulla M; Schrappe M; Cario G; Kirschner-Schwabe R; Eckert C; Benes V; Korbel JO; Muckenthaler MU; Kulozik AE
Blood Cancer J; 2017 Feb; 7(2):e523. PubMed ID: 28157215
[TBL] [Abstract] [Full Text] [Related]
9. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation.
Nguyen A; Bougeard G; Koob M; Chenard MP; Schneider A; Maugard C; Entz-Werle N
Fam Cancer; 2016 Oct; 15(4):571-7. PubMed ID: 27017609
[TBL] [Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. The Frequency of Enterobius Vermicularis Infections in Patients Diagnosed With Acute Appendicitis in Pakistan.
Ahmed MU; Bilal M; Anis K; Khan AM; Fatima K; Ahmed I; Khatri AM; Shafiq-ur-Rehman
Glob J Health Sci; 2015 Feb; 7(5):196-201. PubMed ID: 26156929
[TBL] [Abstract] [Full Text] [Related]
14. 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]
15. Constitutional mismatch repair-deficiency and whole-exome sequencing as the means of the rapid detection of the causative msh6 defect.
Hoell JI; Gombert M; Ginzel S; Loth S; Landgraf P; Käfer V; Streiter M; Prokop A; Weiss M; Thiele R; Borkhardt A
Klin Padiatr; 2014 Nov; 226(6-7):357-61. PubMed ID: 25431869
[TBL] [Abstract] [Full Text] [Related]
16. Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
Mar BG; Bullinger LB; McLean KM; Grauman PV; Harris MH; Stevenson K; Neuberg DS; Sinha AU; Sallan SE; Silverman LB; Kung AL; Lo Nigro L; Ebert BL; Armstrong SA
Nat Commun; 2014 Mar; 5():3469. PubMed ID: 24662245
[TBL] [Abstract] [Full Text] [Related]
17. [Management of hereditary non-polyposis syndrome (Lynch syndrome)].
Kariv R; Goldberg Y; Soler I; Rosner G; Half E; Moshkowitz M; Vilkin A; Levi Z; Niv Y
Harefuah; 2011 Apr; 150(4):392-6, 416. PubMed ID: 22164924
[TBL] [Abstract] [Full Text] [Related]
18. Endometrial and ovarian carcinomas with undifferentiated components: clinically aggressive and frequently underrecognized neoplasms.
Tafe LJ; Garg K; Chew I; Tornos C; Soslow RA
Mod Pathol; 2010 Jun; 23(6):781-9. PubMed ID: 20305618
[TBL] [Abstract] [Full Text] [Related]
19. The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms.
Borie C; Colas C; Dartigues P; Lazure T; Rince P; Buhard O; Folliot P; Chalastanis A; Muleris M; Hamelin R; Mercier D; Oliveira C; Seruca R; Chadburn A; Leblond V; Barete S; Gaïdano G; Martin A; Gaulard P; Fléjou JF; Raphael M; Duval A
Int J Cancer; 2009 Nov; 125(10):2360-6. PubMed ID: 19551857
[TBL] [Abstract] [Full Text] [Related]
20. Genome-wide copy number profiling reveals molecular evolution from diagnosis to relapse in childhood acute lymphoblastic leukemia.
Yang JJ; Bhojwani D; Yang W; Cai X; Stocco G; Crews K; Wang J; Morrison D; Devidas M; Hunger SP; Willman CL; Raetz EA; Pui CH; Evans WE; Relling MV; Carroll WL
Blood; 2008 Nov; 112(10):4178-83. PubMed ID: 18768390
[TBL] [Abstract] [Full Text] [Related]
[Next]
