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44. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. Hameed A; Khaliq S; Ismail M; Anwar K; Ebenezer ND; Jordan T; Mehdi SQ; Payne AM; Bhattacharya SS Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):629-33. PubMed ID: 10711674 [TBL] [Abstract][Full Text] [Related]
45. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Zhang Q; Zulfiqar F; Xiao X; Riazuddin SA; Ayyagari R; Sabar F; Caruso R; Sieving PA; Riazuddin S; Hejtmancik JF Hum Genet; 2005 Dec; 118(3-4):356-65. PubMed ID: 16189710 [TBL] [Abstract][Full Text] [Related]
46. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Othmane KB; Johnson E; Menold M; Graham FL; Hamida MB; Hasegawa O; Rogala AD; Ohnishi A; Pericak-Vance M; Hentati F; Vance JM Genomics; 1999 Dec; 62(3):344-9. PubMed ID: 10644431 [TBL] [Abstract][Full Text] [Related]
47. Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family. Yuan Y; Zhou X; Wang F; Yan M; Ding F Curr Eye Res; 2011 Feb; 36(2):154-67. PubMed ID: 21281067 [TBL] [Abstract][Full Text] [Related]
48. [Preliminary mapping of an autosomal dominant retinitis pigmentosa gene by linkage analysis]. Ding F; Zhou X; Yuan Y; Yan M; Zheng F Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):634-7. PubMed ID: 22161094 [TBL] [Abstract][Full Text] [Related]
49. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Millán JM; Martínez F; Vilela C; Beneyto M; Prieto F; Nájera C Hum Genet; 1995 Aug; 96(2):216-8. PubMed ID: 7635473 [TBL] [Abstract][Full Text] [Related]
50. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Xu SY; Schwartz M; Rosenberg T; Gal A Hum Mol Genet; 1996 Aug; 5(8):1193-7. PubMed ID: 8842740 [TBL] [Abstract][Full Text] [Related]
51. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Martínez-Mir A; Bayés M; Vilageliu L; Grinberg D; Ayuso C; del Río T; García-Sandoval B; Bussaglia E; Baiget M; Gonzàlez-Duarte R; Balcells S Genomics; 1997 Feb; 40(1):142-6. PubMed ID: 9070931 [TBL] [Abstract][Full Text] [Related]
52. Retinitis pigmentosa genetics: a study in Indian population. Vinchurkar MS; Sathye SM; Dikshit M Indian J Ophthalmol; 1996 Jun; 44(2):77-82. PubMed ID: 8916593 [TBL] [Abstract][Full Text] [Related]
53. A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Papaioannou M; Chakarova CF; Prescott DC; Waseem N; Theis T; Lopez I; Gill B; Koenekoop RK; Bhattacharya SS Hum Genet; 2005 Dec; 118(3-4):501-3. PubMed ID: 16189705 [TBL] [Abstract][Full Text] [Related]
54. Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. Ayuso C; Garcia-Sandoval B; Najera C; Valverde D; Carballo M; Antiñolo G Clin Genet; 1995 Sep; 48(3):120-2. PubMed ID: 8556816 [TBL] [Abstract][Full Text] [Related]
55. Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa. Beaty TH; Boughman JA Am J Med Genet; 1986 Jul; 24(3):493-504. PubMed ID: 3728568 [TBL] [Abstract][Full Text] [Related]
56. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Langmann T; Di Gioia SA; Rau I; Stöhr H; Maksimovic NS; Corbo JC; Renner AB; Zrenner E; Kumaramanickavel G; Karlstetter M; Arsenijevic Y; Weber BH; Gal A; Rivolta C Am J Hum Genet; 2010 Sep; 87(3):376-81. PubMed ID: 20705278 [TBL] [Abstract][Full Text] [Related]
57. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. Kenna P; Mansergh F; Millington-Ward S; Erven A; Kumar-Singh R; Brennan R; Farrar GJ; Humphries P Br J Ophthalmol; 1997 Mar; 81(3):207-13. PubMed ID: 9135384 [TBL] [Abstract][Full Text] [Related]
58. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Bareil C; Hamel CP; Delague V; Arnaud B; Demaille J; Claustres M Hum Genet; 2001 Apr; 108(4):328-34. PubMed ID: 11379879 [TBL] [Abstract][Full Text] [Related]
59. Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. Spence MA; Sparkes RS; Heckenlively JR; Pearlman JT; Zedalis D; Sparkes M; Crist M; Tideman S Am J Hum Genet; 1977 Jul; 29(4):397-404. PubMed ID: 879170 [TBL] [Abstract][Full Text] [Related]
60. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Tuson M; Marfany G; Gonzàlez-Duarte R Am J Hum Genet; 2004 Jan; 74(1):128-38. PubMed ID: 14681825 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]