198 related articles for article (PubMed ID: 14574005)
1. Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?
Trimbath JD; Petersen GM; Erdman SH; Ferre M; Luce MC; Giardiello FM
Fam Cancer; 2001; 1(2):101-5. PubMed ID: 14574005
[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. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations.
Bandipalliam P
Fam Cancer; 2005; 4(4):323-33. PubMed ID: 16341812
[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. Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.
Plaschke J; Linnebacher M; Kloor M; Gebert J; Cremer FW; Tinschert S; Aust DE; von Knebel Doeberitz M; Schackert HK
Eur J Hum Genet; 2006 May; 14(5):561-6. PubMed ID: 16418736
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis.
Park JG; Vasen HF; Park KJ; Peltomaki P; Ponz de Leon M; Rodriguez-Bigas MA; Lubinski J; Beck NE; Bisgaard ML; Miyaki M; Wijnen JT; Baba S; Lynch HT
Dis Colon Rectum; 1999 Jun; 42(6):710-5; discussion 715-6. PubMed ID: 10378593
[TBL] [Abstract][Full Text] [Related]
9. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
Wang Q; Lasset C; Desseigne F; Saurin JC; Maugard C; Navarro C; Ruano E; Descos L; Trillet-Lenoir V; Bosset JF; Puisieux A
Hum Genet; 1999; 105(1-2):79-85. PubMed ID: 10480359
[TBL] [Abstract][Full Text] [Related]
10. Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
Beck NE; Tomlinson IP; Homfray TF; Frayling IM; Hodgson SV; Bodmer WF
Gut; 1997 Aug; 41(2):235-8. PubMed ID: 9301504
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair.
Boardman LA; Schmidt S; Lindor NM; Burgart LJ; Cunningham JM; Price-Troska T; Snow K; Ahlquist DA; Thibodeau SN
Genes Chromosomes Cancer; 2001 Feb; 30(2):181-6. PubMed ID: 11135435
[TBL] [Abstract][Full Text] [Related]
13. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
Southey MC; Jenkins MA; Mead L; Whitty J; Trivett M; Tesoriero AA; Smith LD; Jennings K; Grubb G; Royce SG; Walsh MD; Barker MA; Young JP; Jass JR; St John DJ; Macrae FA; Giles GG; Hopper JL
J Clin Oncol; 2005 Sep; 23(27):6524-32. PubMed ID: 16116158
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
Poley JW; Wagner A; Hoogmans MM; Menko FH; Tops C; Kros JM; Reddingius RE; Meijers-Heijboer H; Kuipers EJ; Dinjens WN;
Cancer; 2007 Jun; 109(11):2349-56. PubMed ID: 17440981
[TBL] [Abstract][Full Text] [Related]
16. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.
Liu T; Yan H; Kuismanen S; Percesepe A; Bisgaard ML; Pedroni M; Benatti P; Kinzler KW; Vogelstein B; Ponz de Leon M; Peltomäki P; Lindblom A
Cancer Res; 2001 Nov; 61(21):7798-802. PubMed ID: 11691795
[TBL] [Abstract][Full Text] [Related]
17. Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.
Lage PA; Albuquerque C; Sousa RG; Cravo ML; Salazar M; Francisco I; Maia L; Claro I; Suspiro A; Rodrigues P; Raposo H; Fidalgo PA; Nobre-Leitão C
Cancer; 2004 Jul; 101(1):172-7. PubMed ID: 15222003
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.
Huang SC; Lavine JE; Boland PS; Newbury RO; Kolodner R; Pham TT; Arnold CN; Boland CR; Carethers JM
J Pediatr; 2001 May; 138(5):629-35. PubMed ID: 11343035
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]
