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    Results: 1 to 20 of 693

    1.

    Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

    Brea-Fernández AJ, Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, González-Duarte R, Carracedo A.

    Br J Ophthalmol. 2008 Oct;92(10):1419-23.PMID: 18815424 [PubMed - indexed for MEDLINE]Related articles

    2.

    Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

    Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D.

    Nat Genet. 2000 Nov;26(3):270-1.PMID: 11062461 [PubMed - indexed for MEDLINE]Related articles

    3.

    Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.

    Tada A, Wada Y, Sato H, Itabashi T, Kawamura M, Tamai M, Nishida K.

    Mol Vis. 2006 May 9;12:441-4.PMID: 16710167 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

    Abbasi AH, Garzozi HJ, Ben-Yosef T.

    Mol Vis. 2008 Apr 21;14:675-82.PMID: 18432314 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

    Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J.

    Mol Vis. 2004 May 20;10:361-5.PMID: 15162096 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

    Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

    Hum Mutat. 2007 Jun;28(6):571-7.PMID: 17301963 [PubMed - indexed for MEDLINE]Related articles

    7.

    Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene.

    Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP.

    Br J Ophthalmol. 2009 Jul;93(7):920-5. Epub 2009 Apr 28.PMID: 19403518 [PubMed - indexed for MEDLINE]Related articles

    8.

    Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

    Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

    Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.PMID: 12714658 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].

    Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J Jr.

    Atherosclerosis. 1999 Sep;146(1):125-31.PMID: 10487495 [PubMed - indexed for MEDLINE]Related articles

    10.

    Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

    Tschernutter M, Jenkins SA, Waseem NH, Saihan Z, Holder GE, Bird AC, Bhattacharya SS, Ali RR, Webster AR.

    Br J Ophthalmol. 2006 Jun;90(6):718-23.PMID: 16714263 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

    Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.

    Hum Mutat. 2008 Jun;29(6):869-78.PMID: 18412284 [PubMed - indexed for MEDLINE]Related articles

    12.

    [Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa]

    Lu SS, Zhao C, Cui Y, Li ND, Zhang XM, Zhao KX.

    Zhonghua Yan Ke Za Zhi. 2005 Apr;41(4):305-11. Chinese. PMID: 15924690 [PubMed - indexed for MEDLINE]Related articles

    13.

    Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

    Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB.

    Hum Mol Genet. 1998 Mar;7(3):355-62.PMID: 9466990 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.

    Hayashi T, Gekka T, Omoto S, Takeuchi T, Kitahara K.

    Ophthalmic Res. 2005 Jul-Aug;37(4):214-24. Epub 2005 Jul 5.PMID: 16006781 [PubMed - indexed for MEDLINE]Related articles

    15.

    A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

    Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF.

    Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21.PMID: 15277496 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat.

    D'Cruz PM, Yasumura D, Weir J, Matthes MT, Abderrahim H, LaVail MM, Vollrath D.

    Hum Mol Genet. 2000 Mar 1;9(4):645-51.PMID: 10699188 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Computational analysis of splicing errors and mutations in human transcripts.

    Kurmangaliyev YZ, Gelfand MS.

    BMC Genomics. 2008 Jan 14;9:13.PMID: 18194514 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

    Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS.

    Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4.PMID: 17325180 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

    Frio TR, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.

    Hum Mutat. 2009 Sep;30(9):1340-7.PMID: 19618371 [PubMed - indexed for MEDLINE]Related articles

    20.

    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.PMID: 11668634 [PubMed - indexed for MEDLINE]Related articles

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