BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 32642664)

  • 1. Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
    Guerrini-Rousseau L; Varlet P; Colas C; Andreiuolo F; Bourdeaut F; Dahan K; Devalck C; Faure-Conter C; Genuardi M; Goldberg Y; Kuhlen M; Moalla S; Opocher E; Perez-Alonso V; Sehested A; Slavc I; Unger S; Wimmer K; Grill J; Brugières L
    Neurooncol Adv; 2019; 1(1):vdz033. PubMed ID: 32642664
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
    Suerink M; Potjer TP; Versluijs AB; Ten Broeke SW; Tops CM; Wimmer K; Nielsen M
    Clin Genet; 2018 Jan; 93(1):134-137. PubMed ID: 28503822
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cerebral developmental venous anomalies in children with mismatch repair deficiency.
    Kara B; Paksoy Y; Çağlayan AO; Seher N; Akbaş H; Köksal Y
    Turk J Pediatr; 2022; 64(6):1106-1116. PubMed ID: 36583892
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
    Sehested A; Meade J; Scheie D; Østrup O; Bertelsen B; Misiakou MA; Sarosiek T; Kessler E; Melchior LC; Munch-Petersen HF; Pai RK; Schmuth M; Gottschling H; Zschocke J; Gallon R; Wimmer K
    Hum Mutat; 2022 Jan; 43(1):85-96. PubMed ID: 34816535
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan.
    Amayiri N; Tabori U; Campbell B; Bakry D; Aronson M; Durno C; Rakopoulos P; Malkin D; Qaddoumi I; Musharbash A; Swaidan M; Bouffet E; Hawkins C; Al-Hussaini M;
    Int J Cancer; 2016 Jan; 138(2):380-5. PubMed ID: 26293621
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
    Aronson M; Colas C; Shuen A; Hampel H; Foulkes WD; Baris Feldman H; Goldberg Y; Muleris M; Wolfe Schneider K; McGee RB; Jasperson K; Rangaswami A; Brugieres L; Tabori U
    J Med Genet; 2022 Apr; 59(4):318-327. PubMed ID: 33622763
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.