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 *

106 related articles for article (PubMed ID: 18007577)

  • 1. 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]  

  • 2. Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
    Jackson CC; Holter S; Pollett A; Clendenning M; Chou S; Senter L; Ramphal R; Gallinger S; Boycott K
    Pediatr Blood Cancer; 2008 Jun; 50(6):1268-70. PubMed ID: 18273873
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
    Auclair J; Leroux D; Desseigne F; Lasset C; Saurin JC; Joly MO; Pinson S; Xu XL; Montmain G; Ruano E; Navarro C; Puisieux A; Wang Q
    Hum Mutat; 2007 Nov; 28(11):1084-90. PubMed ID: 17557300
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.
    de Vos M; Hayward B; Bonthron DT; Sheridan E
    Biochem Soc Trans; 2005 Aug; 33(Pt 4):718-20. PubMed ID: 16042583
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
    Agostini M; Tibiletti MG; Lucci-Cordisco E; Chiaravalli A; Morreau H; Furlan D; Boccuto L; Pucciarelli S; Capella C; Boiocchi M; Viel A
    Am J Gastroenterol; 2005 Aug; 100(8):1886-91. PubMed ID: 16144131
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
    De Vos M; Hayward BE; Picton S; Sheridan E; Bonthron DT
    Am J Hum Genet; 2004 May; 74(5):954-64. PubMed ID: 15077197
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.