BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 20655036)

  • 1. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
    Dvir L; Srour G; Abu-Ras R; Miller B; Shalev SA; Ben-Yosef T
    Am J Hum Genet; 2010 Aug; 87(2):258-64. PubMed ID: 20655036
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP; Rucinski DE; Chen SH; Berson EL
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 14():675-82. PubMed ID: 18432314
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
    Cohen B; Chervinsky E; Jabaly-Habib H; Shalev SA; Briscoe D; Ben-Yosef T
    Mol Vis; 2012; 18():2915-21. PubMed ID: 23233793
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
    Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.
    Saga M; Mashima Y; Akeo K; Kudoh J; Oguchi Y; Shimizu N
    Curr Eye Res; 1998 Mar; 17(3):332-5. PubMed ID: 9543643
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
    Goldenberg-Cohen N; Banin E; Zalzstein Y; Cohen B; Rotenstreich Y; Rizel L; Basel-Vanagaite L; Ben-Yosef T
    Mol Vis; 2013; 19():1565-71. PubMed ID: 23882135
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
    Huang SH; Pittler SJ; Huang X; Oliveira L; Berson EL; Dryja TP
    Nat Genet; 1995 Dec; 11(4):468-71. PubMed ID: 7493036
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
    Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
    Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
    Zobor D; Balousha G; Baumann B; Wissinger B
    Mol Vis; 2014; 20():178-82. PubMed ID: 24520187
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
    Cui Y; Zhao KX; Wang L; Wang Q; Zhang W; Chen WY; Wang LM
    Zhonghua Yan Ke Za Zhi; 2003 Jan; 39(1):28-32. PubMed ID: 12760810
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
    Bandah-Rozenfeld D; Mizrahi-Meissonnier L; Farhy C; Obolensky A; Chowers I; Pe'er J; Merin S; Ben-Yosef T; Ashery-Padan R; Banin E; Sharon D
    Am J Hum Genet; 2010 Sep; 87(3):382-91. PubMed ID: 20705279
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
    McLaughlin ME; Ehrhart TL; Berson EL; Dryja TP
    Proc Natl Acad Sci U S A; 1995 Apr; 92(8):3249-53. PubMed ID: 7724547
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
    Collin RW; Safieh C; Littink KW; Shalev SA; Garzozi HJ; Rizel L; Abbasi AH; Cremers FP; den Hollander AI; Klevering BJ; Ben-Yosef T
    Am J Hum Genet; 2010 May; 86(5):783-8. PubMed ID: 20398884
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
    Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Yao W; Li S; Jiao X; Shahzadi A; Amer M; Iqbal M; Hussnain T; Sieving PA; Riazuddin S; Hejtmancik JF
    Mol Vis; 2006 Oct; 12():1283-91. PubMed ID: 17110911
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
    Aziz N; Ullah M; Rashid A; Hussain Z; Shah K; Awan A; Khan M; Ullah I; Rehman AU
    BMC Ophthalmol; 2023 Mar; 23(1):116. PubMed ID: 36959549
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
    Dryja TP; Finn JT; Peng YW; McGee TL; Berson EL; Yau KW
    Proc Natl Acad Sci U S A; 1995 Oct; 92(22):10177-81. PubMed ID: 7479749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
    Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T
    Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.