These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.