BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 23729388)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.
    Lindsay H; Jubran RF; Wang L; Kipp BR; May WA
    J Pediatr; 2013 Aug; 163(2):601-3. PubMed ID: 23582141
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. PMS2 mutations in childhood cancer.
    Bonthron DT; Hayward BE; De Vos M; Sheridan E
    Gut; 2005 Dec; 54(12):1821. PubMed ID: 16284300
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
    Gottschling S; Reinhard H; Pagenstecher C; Krüger S; Raedle J; Plotz G; Henn W; Buettner R; Meyer S; Graf N
    Eur J Pediatr; 2008 Feb; 167(2):225-9. PubMed ID: 17387511
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.
    Tan TY; Orme LM; Lynch E; Croxford MA; Dow C; Dewan PA; Lipton L
    J Pediatr Hematol Oncol; 2008 Mar; 30(3):254-7. PubMed ID: 18376293
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Pitfalls in the diagnosis of biallelic PMS2 mutations.
    Antelo M; Milito D; Rhees J; Roca E; Barugel M; Cuatrecasas M; Moreira L; Leoz ML; Carballal S; Ocaña T; Pellisé M; Castells A; Boland CR; Goel A; Balaguer F
    Fam Cancer; 2015 Sep; 14(3):411-4. PubMed ID: 25773960
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical problem-solving. Spot diagnosis.
    Stark Z; Campbell LJ; Mitchell C; James PA; Heath JA; Boussioutas A; Lynch C; Trainer AH
    N Engl J Med; 2014 Jun; 370(23):2229-36. PubMed ID: 24897087
    [No Abstract]   [Full Text] [Related]  

  • 19. CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 6-2016. A 10-Year-Old Boy with Abdominal Cramping and Fevers.
    Biller JA; Butros SR; Chan-Smutko G; Abrams AN; Chung DC; Hagen CE
    N Engl J Med; 2016 Feb; 374(8):772-81. PubMed ID: 26933852
    [No Abstract]   [Full Text] [Related]  

  • 20. Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation.
    Kratz CP; Niemeyer CM; Jüttner E; Kartal M; Weninger A; Schmitt-Graeff A; Kontny U; Lauten M; Utzolino S; Rädecke J; Fonatsch C; Wimmer K
    Leukemia; 2008 May; 22(5):1078-80. PubMed ID: 18007577
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.