These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
166 related articles for article (PubMed ID: 16123440)
1. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Mandal MN; Heckenlively JR; Burch T; Chen L; Vasireddy V; Koenekoop RK; Sieving PA; Ayyagari R Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3355-62. PubMed ID: 16123440 [TBL] [Abstract][Full Text] [Related]
2. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486 [TBL] [Abstract][Full Text] [Related]
3. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. Abd El-Aziz MM; El-Ashry MF; Barragan I; Marcos I; Borrego S; Antiñolo G; Bhattacharya SS Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621 [TBL] [Abstract][Full Text] [Related]
7. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Pomares E; Marfany G; Brión MJ; Carracedo A; Gonzàlez-Duarte R Hum Mutat; 2007 May; 28(5):511-6. PubMed ID: 17279538 [TBL] [Abstract][Full Text] [Related]
8. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Zernant J; Külm M; Dharmaraj S; den Hollander AI; Perrault I; Preising MN; Lorenz B; Kaplan J; Cremers FP; Maumenee I; Koenekoop RK; Allikmets R Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401 [TBL] [Abstract][Full Text] [Related]
9. The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. van Huet RA; Pierrache LH; Meester-Smoor MA; Klaver CC; van den Born LI; Hoyng CB; de Wijs IJ; Collin RW; Hoefsloot LH; Klevering BJ Mol Vis; 2015; 21():461-76. PubMed ID: 25999674 [TBL] [Abstract][Full Text] [Related]
10. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Rivolta C; Ayyagari R; Sieving PA; Berson EL; Dryja TP Mol Vis; 2003 Feb; 9():49-51. PubMed ID: 12592226 [TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
12. Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Takahashi Y; Seki N; Ishiura H; Mitsui J; Matsukawa T; Kishino A; Onodera O; Aoki M; Shimozawa N; Murayama S; Itoyama Y; Suzuki Y; Sobue G; Nishizawa M; Goto J; Tsuji S Arch Neurol; 2008 Oct; 65(10):1326-32. PubMed ID: 18852346 [TBL] [Abstract][Full Text] [Related]
13. Copy-number variations in EYS: a significant event in the appearance of arRP. Pieras JI; Barragán I; Borrego S; Audo I; González-Del Pozo M; Bernal S; Baiget M; Zeitz C; Bhattacharya SS; Antiñolo G Invest Ophthalmol Vis Sci; 2011 Jul; 52(8):5625-31. PubMed ID: 21519034 [TBL] [Abstract][Full Text] [Related]
14. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. Gamundi MJ; Hernan I; Maseras M; Baiget M; Ayuso C; Borrego S; Antiñolo G; Millán JM; Valverde D; Carballo M Mol Vis; 2005 Nov; 11():922-8. PubMed ID: 16280978 [TBL] [Abstract][Full Text] [Related]
15. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Collin RW; van den Born LI; Klevering BJ; de Castro-Miró M; Littink KW; Arimadyo K; Azam M; Yazar V; Zonneveld MN; Paun CC; Siemiatkowska AM; Strom TM; Hehir-Kwa JY; Kroes HY; de Faber JT; van Schooneveld MJ; Heckenlively JR; Hoyng CB; den Hollander AI; Cremers FP Invest Ophthalmol Vis Sci; 2011 Apr; 52(5):2227-39. PubMed ID: 21217109 [TBL] [Abstract][Full Text] [Related]
16. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. den Hollander AI; Lopez I; Yzer S; Zonneveld MN; Janssen IM; Strom TM; Hehir-Kwa JY; Veltman JA; Arends ML; Meitinger T; Musarella MA; van den Born LI; Fishman GA; Maumenee IH; Rohrschneider K; Cremers FP; Koenekoop RK Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821 [TBL] [Abstract][Full Text] [Related]
17. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Banerjee P; Kleyn PW; Knowles JA; Lewis CA; Ross BM; Parano E; Kovats SG; Lee JJ; Penchaszadeh GK; Ott J; Jacobson SG; Gilliam TC Nat Genet; 1998 Feb; 18(2):177-9. PubMed ID: 9462751 [TBL] [Abstract][Full Text] [Related]
18. [Application of DNA chip technology to biomedical research]. Park WY Exp Mol Med; 2001 Apr; 33(1 Suppl):113-24. PubMed ID: 11708319 [TBL] [Abstract][Full Text] [Related]
19. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. González-del Pozo M; Borrego S; Barragán I; Pieras JI; Santoyo J; Matamala N; Naranjo B; Dopazo J; Antiñolo G PLoS One; 2011; 6(12):e27894. PubMed ID: 22164218 [TBL] [Abstract][Full Text] [Related]
20. EYS is a major gene for rod-cone dystrophies in France. Audo I; Sahel JA; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Nandrot EF; Doumanov J; Barragan I; Antinolo G; Bhattacharya SS; Zeitz C Hum Mutat; 2010 May; 31(5):E1406-35. PubMed ID: 20333770 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]