BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 34787334)

  • 1. Eruptive nevi in a patient with constitutional mismatch repair deficiency (CMMRD).
    Vassantachart JM; Zacher NC; Teng JMC
    Pediatr Dermatol; 2022 Jan; 39(1):91-93. PubMed ID: 34787334
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.
    Gupta A; George R; Aboobacker FN; ThamaraiSelvi B; Priscilla AJ
    Pediatr Dermatol; 2020 Nov; 37(6):1139-1141. PubMed ID: 32876971
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).
    Citak EC; Sagcan F; Gundugan BD; Bozdogan ST; Yilmaz EB; Avci E; Balci Y; Karabulut YY
    J Pediatr Hematol Oncol; 2021 Mar; 43(2):e198-e202. PubMed ID: 31815888
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
    González-Acosta M; Marín F; Puliafito B; Bonifaci N; Fernández A; Navarro M; Salvador H; Balaguer F; Iglesias S; Velasco A; Grau Garces E; Moreno V; Gonzalez-Granado LI; Guerra-García P; Ayala R; Florkin B; Kratz C; Ripperger T; Rosenbaum T; Januszkiewicz-Lewandowska D; Azizi AA; Ragab I; Nathrath M; Pander HJ; Lobitz S; Suerink M; Dahan K; Imschweiler T; Demirsoy U; Brunet J; Lázaro C; Rueda D; Wimmer K; Capellá G; Pineda M
    J Med Genet; 2020 Apr; 57(4):269-273. PubMed ID: 31494577
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.