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Journal Abstract Search
740 related items for PubMed ID: 22039234
1. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR. Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234 [Abstract] [Full Text] [Related]
2. An unusual retinal phenotype associated with a novel mutation in RHO. Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C. Arch Ophthalmol; 2010 Aug 02; 128(8):1036-45. PubMed ID: 20697005 [Abstract] [Full Text] [Related]
3. 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 02; 44(5):2171-7. PubMed ID: 12714658 [Abstract] [Full Text] [Related]
4. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Ophthalmology; 2013 Jun 02; 120(6):1239-46. PubMed ID: 23499059 [Abstract] [Full Text] [Related]
5. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Invest Ophthalmol Vis Sci; 2006 Apr 02; 47(4):1630-5. PubMed ID: 16565402 [Abstract] [Full Text] [Related]
6. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Ophthalmology; 2005 Aug 02; 112(8):1442-7. PubMed ID: 15953638 [Abstract] [Full Text] [Related]
10. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Ophthalmology; 2005 Sep 02; 112(9):1592-8. PubMed ID: 16019073 [Abstract] [Full Text] [Related]
11. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A. Ophthalmology; 1998 Dec 02; 105(12):2286-96. PubMed ID: 9855162 [Abstract] [Full Text] [Related]
12. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M. Ophthalmic Genet; 2005 Sep 02; 26(3):119-24. PubMed ID: 16272056 [Abstract] [Full Text] [Related]
13. Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Ophthalmology; 2011 May 02; 118(5):888-94. PubMed ID: 21211845 [Abstract] [Full Text] [Related]
14. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Invest Ophthalmol Vis Sci; 1997 Sep 02; 38(10):1983-97. PubMed ID: 9331262 [Abstract] [Full Text] [Related]
15. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M. Am J Ophthalmol; 2005 Sep 02; 140(3):537-40. PubMed ID: 16139010 [Abstract] [Full Text] [Related]
16. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. Reinis A, Golovleva I, Köhn L, Sandgren O. Acta Ophthalmol; 2013 May 02; 91(3):259-66. PubMed ID: 22405330 [Abstract] [Full Text] [Related]
17. Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa. Kim C, Chung H, Yu HG. Ophthalmic Genet; 2012 Jun 02; 33(2):96-9. PubMed ID: 22217031 [Abstract] [Full Text] [Related]
18. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB. Arch Ophthalmol; 2007 Jul 02; 125(7):932-5. PubMed ID: 17620573 [Abstract] [Full Text] [Related]
19. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa. Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B. Br J Ophthalmol; 2005 Oct 02; 89(10):1258-64. PubMed ID: 16170112 [Abstract] [Full Text] [Related]