BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 25691505)

  • 1. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
    Li L; Hamel N; Baker K; McGuffin MJ; Couillard M; Gologan A; Marcus VA; Chodirker B; Chudley A; Stefanovici C; Durandy A; Hegele RA; Feng BJ; Goldgar DE; Zhu J; De Rosa M; Gruber SB; Wimmer K; Young B; Chong G; Tischkowitz MD; Foulkes WD
    J Med Genet; 2015 May; 52(5):348-52. PubMed ID: 25691505
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
    Leenen CH; Geurts-Giele WR; Dubbink HJ; Reddingius R; van den Ouweland AM; Tops CM; van de Klift HM; Kuipers EJ; van Leerdam ME; Dinjens WN; Wagner A
    Clin Genet; 2011 Dec; 80(6):558-65. PubMed ID: 21204794
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
    Urganci N; Genc DB; Kose G; Onal Z; Vidin OO
    Pediatrics; 2015 Oct; 136(4):e1047-50. PubMed ID: 26391938
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
    Levi Z; Kariv R; Barnes-Kedar I; Goldberg Y; Half E; Morgentern S; Eli B; Baris HN; Vilkin A; Belfer RG; Niv Y; Elhasid R; Dvir R; Abu-Freha N; Cohen S
    Clin Genet; 2015 Nov; 88(5):474-8. PubMed ID: 25307252
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
    Baig SM; Fatima A; Tariq M; Khan TN; Ali Z; Faheem M; Mahmood H; Killela P; Waitkus M; He Y; Zhao F; Wang S; Jiao Y; Yan H
    Fam Cancer; 2019 Apr; 18(2):261-265. PubMed ID: 30478739
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
    Herkert JC; Niessen RC; Olderode-Berends MJ; Veenstra-Knol HE; Vos YJ; van der Klift HM; Scheenstra R; Tops CM; Karrenbeld A; Peters FT; Hofstra RM; Kleibeuker JH; Sijmons RH
    Eur J Cancer; 2011 May; 47(7):965-82. PubMed ID: 21376568
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
    Will O; Carvajal-Carmona LG; Gorman P; Howarth KM; Jones AM; Polanco-Echeverry GM; Chinaleong JA; Günther T; Silver A; Clark SK; Tomlinson I
    Gastroenterology; 2007 Feb; 132(2):527-30. PubMed ID: 17258725
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
    Walter AW; Ennis S; Best H; Vaughn CP; Swensen JJ; Openshaw A; Gripp KW
    Pediatr Blood Cancer; 2013 Nov; 60(11):E135-6. PubMed ID: 23729388
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
    Chmara M; Wernstedt A; Wasag B; Peeters H; Renard M; Beert E; Brems H; Giner T; Bieber I; Hamm H; Sciot R; Wimmer K; Legius E
    Genes Chromosomes Cancer; 2013 Jul; 52(7):656-64. PubMed ID: 23629955
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
    Marín F; Canet-Hermida J; Bianchi V; Chung J; Wimmer K; Foulkes W; Pérez-Alonso V; Domínguez-Pinilla N; Sábado C; Vázquez-Gómez F; Molinés A; Fioravantti V; Carrasco E; Stengs L; Edwards M; Negm L; Das A; Aronson M; Pastor Á; Rueda D; González-Granado LI; Tabori U; Capellá G; Pineda M
    Clin Chem; 2024 May; 70(5):737-746. PubMed ID: 38531023
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
    Mork ME; Borras E; Taggart MW; Cuddy A; Bannon SA; You YN; Lynch PM; Ramirez PT; Rodriguez-Bigas MA; Vilar E
    Fam Cancer; 2016 Oct; 15(4):587-91. PubMed ID: 27017610
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
    Aronson M; Gallinger S; Cohen Z; Cohen S; Dvir R; Elhasid R; Baris HN; Kariv R; Druker H; Chan H; Ling SC; Kortan P; Holter S; Semotiuk K; Malkin D; Farah R; Sayad A; Heald B; Kalady MF; Penney LS; Rideout AL; Rashid M; Hasadsri L; Pichurin P; Riegert-Johnson D; Campbell B; Bakry D; Al-Rimawi H; Alharbi QK; Alharbi M; Shamvil A; Tabori U; Durno C
    Am J Gastroenterol; 2016 Feb; 111(2):275-84. PubMed ID: 26729549
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
    De Rosa M; Fasano C; Panariello L; Scarano MI; Belli G; Iannelli A; Ciciliano F; Izzo P
    Oncogene; 2000 Mar; 19(13):1719-23. PubMed ID: 10763829
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PMS2 mutations in childhood cancer.
    De Vos M; Hayward BE; Charlton R; Taylor GR; Glaser AW; Picton S; Cole TR; Maher ER; McKeown CM; Mann JR; Yates JR; Baralle D; Rankin J; Bonthron DT; Sheridan E
    J Natl Cancer Inst; 2006 Mar; 98(5):358-61. PubMed ID: 16507833
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.