118 related articles for article (PubMed ID: 30815977)
1. Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Solassol J; Larrieux M; Leclerc J; Ducros V; Corsini C; Chiésa J; Pujol P; Rey JM
Hum Mutat; 2019 Jun; 40(6):716-720. PubMed ID: 30815977
[TBL] [Abstract][Full Text] [Related]
2. Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.
Li Y; Salo-Mullen E; Varghese A; Trottier M; Stadler ZK; Zhang L
Mol Genet Genomic Med; 2020 Dec; 8(12):e1523. PubMed ID: 33058565
[TBL] [Abstract][Full Text] [Related]
3. A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.
Sui QQ; Jiang W; Wu XD; Ling YH; Pan ZZ; Ding PR
J Zhejiang Univ Sci B; 2019 Jan.; 20(1):105-108. PubMed ID: 30614234
[TBL] [Abstract][Full Text] [Related]
4. Functional Characterization of a Missense Variant of
Zaib T; Zhang C; Saleem K; Xu L; Qin Q; Wang Y; Ji W; Khan H; Yu H; Zhu S; Gao W; Huang Y; Jia X; Wu J; Song H; Zhang Y; Sun W; Fu S
Dis Markers; 2020; 2020():8360841. PubMed ID: 32076465
[TBL] [Abstract][Full Text] [Related]
5. Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.
Dillon JL; Gonzalez JL; DeMars L; Bloch KJ; Tafe LJ
Hum Pathol; 2017 Dec; 70():121-128. PubMed ID: 29107668
[TBL] [Abstract][Full Text] [Related]
6. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Leclerc J; Flament C; Lovecchio T; Delattre L; Ait Yahya E; Baert-Desurmont S; Burnichon N; Bronner M; Cabaret O; Lejeune S; Guimbaud R; Morin G; Mauillon J; Jonveaux P; Laurent-Puig P; Frébourg T; Porchet N; Buisine MP
Genet Med; 2018 Dec; 20(12):1589-1599. PubMed ID: 29790873
[TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular characterisation of hereditary and sporadic metastatic colorectal cancers harbouring microsatellite instability/DNA mismatch repair deficiency.
Cohen R; Buhard O; Cervera P; Hain E; Dumont S; Bardier A; Bachet JB; Gornet JM; Lopez-Trabada D; Dumont S; Kaci R; Bertheau P; Renaud F; Bibeau F; Parc Y; Vernerey D; Duval A; Svrcek M; André T
Eur J Cancer; 2017 Nov; 86():266-274. PubMed ID: 29055842
[TBL] [Abstract][Full Text] [Related]
8. Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome.
Kidambi TD; Blanco A; Van Ziffle J; Terdiman JP
Fam Cancer; 2016 Apr; 15(2):275-80. PubMed ID: 26781822
[TBL] [Abstract][Full Text] [Related]
9. Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.
Alqahtani M; Edwards C; Buzzacott N; Carpenter K; Alsaleh K; Alsheikh A; Abozeed W; Mashhour M; Almousa A; Housawi Y; Al Hawwaj S; Iacopetta B
Fam Cancer; 2018 Apr; 17(2):197-203. PubMed ID: 28643016
[TBL] [Abstract][Full Text] [Related]
10. Recent discoveries in the molecular genetics of Lynch syndrome.
Boland CR
Fam Cancer; 2016 Jul; 15(3):395-403. PubMed ID: 27038793
[TBL] [Abstract][Full Text] [Related]
11. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K; Rohlin A; Aravidis C; Melin B; Nordling M; Stenmark-Askmalm M; Lindblom A; Nilbert M
Oncol Rep; 2016 Nov; 36(5):2823-2835. PubMed ID: 27601186
[TBL] [Abstract][Full Text] [Related]
12. Epidemiological, clinical and molecular characterization of Lynch-like syndrome: A population-based study.
Porkka N; Lahtinen L; Ahtiainen M; Böhm JP; Kuopio T; Eldfors S; Mecklin JP; Seppälä TT; Peltomäki P
Int J Cancer; 2019 Jul; 145(1):87-98. PubMed ID: 30575961
[TBL] [Abstract][Full Text] [Related]
13. Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report.
Gohda Y; Noguchi R; Horie T; Igari T; Nakamura H; Ohta Y; Yamaguchi K; Ikenoue T; Hatakeyama S; Yusa N; Furukawa Y; Yano H
BMC Med Genet; 2016 Dec; 17(1):94. PubMed ID: 27938333
[TBL] [Abstract][Full Text] [Related]
14. Identification and Characterization of New
Bouras A; Leone M; Bonadona V; Lebrun M; Calender A; Boutry-Kryza N
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828342
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.
Li F; Xia Y; Wang G; Tang C; Zhan T; Shen J; Zhang J
Mol Genet Genomic Med; 2020 Aug; 8(8):e1295. PubMed ID: 32490589
[TBL] [Abstract][Full Text] [Related]
16. A novel frameshift mutation in the
Pandey AS; Shrestha S
Indian J Cancer; 2018; 55(4):410-412. PubMed ID: 30829280
[TBL] [Abstract][Full Text] [Related]
17. Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.
Yang C; Li Y; Trottier M; Farrell MP; Rai VK; E Salo-Mullen E; Gallagher DJ; Stadler ZK; van der Klift HM; Zhang L
Genes Chromosomes Cancer; 2021 Aug; 60(8):571-576. PubMed ID: 33822432
[TBL] [Abstract][Full Text] [Related]
18. Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Geurts-Giele WR; Rosenberg EH; Rens AV; Leerdam MEV; Dinjens WN; Bleeker FE
Mol Genet Genomic Med; 2019 Jul; 7(7):e00699. PubMed ID: 31104363
[TBL] [Abstract][Full Text] [Related]
19. Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy.
Najdawi F; Crook A; Maidens J; McEvoy C; Fellowes A; Pickett J; Ho M; Nevell D; McIlroy K; Sheen A; Sioson L; Ahadi M; Turchini J; Clarkson A; Hogg R; Valmadre S; Gard G; Dooley SJ; Scott RJ; Fox SB; Field M; Gill AJ
Pathology; 2017 Aug; 49(5):457-464. PubMed ID: 28669579
[TBL] [Abstract][Full Text] [Related]
20. Three-step site-directed mutagenesis screen identifies pathogenic
Houlleberghs H; Dekker M; Lusseveld J; Pieters W; van Ravesteyn T; Verhoef S; Hofstra RMW; Te Riele H
J Med Genet; 2020 May; 57(5):308-315. PubMed ID: 31784484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]