1406 related articles for article (PubMed ID: 15459959)
21. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
[TBL] [Abstract][Full Text] [Related]
22. Mutation spectrum of the APC gene in 83 Korean FAP families.
Kim DW; Kim IJ; Kang HC; Park HW; Shin Y; Park JH; Jang SG; Yoo BC; Lee MR; Hong CW; Park KJ; Oh NG; Kim NK; Sung MK; Lee BW; Kim YJ; Lee H; Park JG
Hum Mutat; 2005 Sep; 26(3):281. PubMed ID: 16088911
[TBL] [Abstract][Full Text] [Related]
23. Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.
Bala S; Sulekova Z; Ballhausen WG
Hum Mutat; 1997; 10(3):201-6. PubMed ID: 9298819
[TBL] [Abstract][Full Text] [Related]
24. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
Kugler W; Pekrun A; Laspe P; Erdlenbruch B; Lakomek M
Hum Mutat; 2001 Apr; 17(4):348. PubMed ID: 11295830
[TBL] [Abstract][Full Text] [Related]
25. Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.
Won YJ; Park KJ; Kwon HJ; Lee JH; Kim JH; Kim YJ; Chun SH; Han HJ; Park JG
J Hum Genet; 1999; 44(2):103-8. PubMed ID: 10083733
[TBL] [Abstract][Full Text] [Related]
26. Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
De Rosa M; Galatola M; Borriello S; Duraturo F; Masone S; Izzo P
Dis Colon Rectum; 2009 Feb; 52(2):268-74. PubMed ID: 19279422
[TBL] [Abstract][Full Text] [Related]
27. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
De Rosa M; Dourisboure RJ; Morelli G; Graziano A; Gutiérrez A; Thibodeau S; Halling K; Avila KC; Duraturo F; Podesta EJ; Izzo P; Solano AR
Hum Mutat; 2004 May; 23(5):523-4. PubMed ID: 15108288
[TBL] [Abstract][Full Text] [Related]
28. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
[TBL] [Abstract][Full Text] [Related]
29. Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).
Michils G; Tejpar S; Fryns JP; Legius E; Van Cutsem E; Cassiman JJ; Matthijs G
Eur J Hum Genet; 2002 Sep; 10(9):505-10. PubMed ID: 12173026
[TBL] [Abstract][Full Text] [Related]
30. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
Eng L; Coutinho G; Nahas S; Yeo G; Tanouye R; Babaei M; Dörk T; Burge C; Gatti RA
Hum Mutat; 2004 Jan; 23(1):67-76. PubMed ID: 14695534
[TBL] [Abstract][Full Text] [Related]
31. Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli.
Bläker H; Sutter C; Kadmon M; Otto HF; Von Knebel-Doeberitz M; Gebert J; Helmke BM
Genes Chromosomes Cancer; 2004 Oct; 41(2):93-8. PubMed ID: 15287021
[TBL] [Abstract][Full Text] [Related]
32. Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis.
Takahashi M; Kikuchi M; Ohkura N; Yaguchi H; Nagamura Y; Ohnami S; Ushiama M; Yoshida T; Sugano K; Iwama T; Kosugi S; Tsukada T
Int J Oncol; 2006 Aug; 29(2):413-21. PubMed ID: 16820884
[TBL] [Abstract][Full Text] [Related]
33. Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.
Menéndez M; González S; Obrador-Hevia A; Domínguez A; Pujol MJ; Valls J; Canela N; Blanco I; Torres A; Pineda-Lucena A; Moreno V; Bachs O; Capellá G
Gastroenterology; 2008 Jan; 134(1):56-64. PubMed ID: 18166348
[TBL] [Abstract][Full Text] [Related]
34. Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms.
Kirchhoff T; Kulcsár L; Tomka M; Stevurková V; Zajac V
Neoplasma; 1999; 46(5):290-4. PubMed ID: 10665844
[TBL] [Abstract][Full Text] [Related]
35. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
Shotelersuk V; Desudchit T; Tongkobpetch S
Int J Mol Med; 2004 Oct; 14(4):683-9. PubMed ID: 15375602
[TBL] [Abstract][Full Text] [Related]
36. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
Aceto G; Curia MC; Veschi S; De Lellis L; Mammarella S; Catalano T; Stuppia L; Palka G; Valanzano R; Tonelli F; Casale V; Stigliano V; Cetta F; Battista P; Mariani-Costantini R; Cama A
Hum Mutat; 2005 Oct; 26(4):394. PubMed ID: 16134147
[TBL] [Abstract][Full Text] [Related]
37. Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?
Aretz S; Koch A; Uhlhaas S; Friedl W; Propping P; von Schweinitz D; Pietsch T
Pediatr Blood Cancer; 2006 Nov; 47(6):811-8. PubMed ID: 16317745
[TBL] [Abstract][Full Text] [Related]
38. T cell signaling abnormalities in systemic lupus erythematosus are associated with increased mutations/polymorphisms and splice variants of T cell receptor zeta chain messenger RNA.
Nambiar MP; Enyedy EJ; Warke VG; Krishnan S; Dennis G; Wong HK; Kammer GM; Tsokos GC
Arthritis Rheum; 2001 Jun; 44(6):1336-50. PubMed ID: 11407693
[TBL] [Abstract][Full Text] [Related]
39. Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.
Heinimann K; Thompson A; Locher A; Furlanetto T; Bader E; Wolf A; Meier R; Walter K; Bauerfeind P; Marra G; Müller H; Foernzler D; Dobbie Z
Cancer Res; 2001 Oct; 61(20):7616-22. PubMed ID: 11606402
[TBL] [Abstract][Full Text] [Related]
40. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
D'Souza-Li L; Canaff L; Janicic N; Cole DE; Hendy GN
Hum Mutat; 2001 Nov; 18(5):411-21. PubMed ID: 11668634
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]