BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 25883011)

  • 1. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
    Durno CA; Sherman PM; Aronson M; Malkin D; Hawkins C; Bakry D; Bouffet E; Gallinger S; Pollett A; Campbell B; Tabori U;
    Eur J Cancer; 2015 May; 51(8):977-83. PubMed ID: 25883011
    [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. 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]  

  • 4. Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.
    Sağ E; Erkut M; Saygin İ; Çebi AH; Bahadir A; Erduran E; Saruhan H; Cakir M
    J Pediatr Hematol Oncol; 2020 Oct; 42(7):e689-e691. PubMed ID: 31599855
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].
    Ilenčíková D
    Klin Onkol; 2012; 25 Suppl():S34-8. PubMed ID: 22920205
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
    Jasperson KW; Samowitz WS; Burt RW
    Clin Genet; 2011 Oct; 80(4):394-7. PubMed ID: 21039432
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
    Shapira Rootman M; Goldberg Y; Cohen R; Kropach N; Keidar I; Friedland R; Dotan G; Konen O; Toledano H
    Clin Genet; 2020 Feb; 97(2):296-304. PubMed ID: 31730237
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
    Menko FH; Kaspers GL; Meijer GA; Claes K; van Hagen JM; Gille JJ
    Fam Cancer; 2004; 3(2):123-7. PubMed ID: 15340263
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
    Elhasid R; Dvir R; Rosenfeld Keidar H; Ben Shachar S; Bitan M; Solar I; Durno C; Aronson M; Malkin D; Hawkins C; Bouffet E; Tabori U;
    J Pediatr Hematol Oncol; 2015 Nov; 37(8):e490-3. PubMed ID: 26274037
    [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. A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report.
    Akabane S; Hinoi T; Akagi K; Yamamoto H; Sada H; Shimizu Y; Shimizu W; Sudo T; Onoe T; Ishiyama K; Suzuki T; Tazawa H; Hadano N; Misumi T; Kojima M; Kubota H; Taniyama D; Kuraoka K; Tashiro H
    BMC Med Genet; 2020 Jul; 21(1):141. PubMed ID: 32611331
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
    Wimmer K; Etzler J
    Hum Genet; 2008 Sep; 124(2):105-22. PubMed ID: 18709565
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
    Wimmer K; Beilken A; Nustede R; Ripperger T; Lamottke B; Ure B; Steinmann D; Reineke-Plaass T; Lehmann U; Zschocke J; Valle L; Fauth C; Kratz CP
    Fam Cancer; 2017 Jan; 16(1):67-71. PubMed ID: 27573199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Low frequency of mismatch repair deficiency in gallbladder cancer.
    Goeppert B; Roessler S; Renner M; Loeffler M; Singer S; Rausch M; Albrecht T; Mehrabi A; Vogel MN; Pathil A; Czink E; Köhler B; Springfeld C; Rupp C; Weiss KH; Schirmacher P; von Knebel Doeberitz M; Kloor M
    Diagn Pathol; 2019 May; 14(1):36. PubMed ID: 31068195
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.
    Durno CA; Aronson M; Tabori U; Malkin D; Gallinger S; Chan HS
    Pediatr Blood Cancer; 2012 Oct; 59(4):652-6. PubMed ID: 22180144
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.