BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 32434206)

  • 21. Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy.
    Nanda A; Salvetti AP; Clouston P; Downes SM; MacLaren RE
    Genes (Basel); 2018 Dec; 9(12):. PubMed ID: 30567410
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
    Zou X; Fang S; Wu S; Li H; Sun Z; Zhu T; Wei X; Sui R
    Exp Eye Res; 2020 Sep; 198():108147. PubMed ID: 32702353
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotype in two families with RP3 associated with RPGR mutations.
    Lorenz B; Andrassi M; Kretschmann U
    Ophthalmic Genet; 2003 Jun; 24(2):89-101. PubMed ID: 12789573
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.
    Wang Y; Lu L; Zhang D; Tan Y; Li D; He F; Jiao X; Yang M; Hejtmancik JF; Liu X
    Eye (Lond); 2021 Jun; 35(6):1688-1696. PubMed ID: 32839555
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
    Parmeggiani F; Barbaro V; Migliorati A; Raffa P; Nespeca P; De Nadai K; Del Vecchio C; Palù G; Parolin C; Di Iorio E
    Eur J Ophthalmol; 2017 Mar; 27(2):240-248. PubMed ID: 27768226
    [TBL] [Abstract][Full Text] [Related]  

  • 26. X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
    Kurata K; Hosono K; Hayashi T; Mizobuchi K; Katagiri S; Miyamichi D; Nishina S; Sato M; Azuma N; Nakano T; Hotta Y
    Int J Mol Sci; 2019 Mar; 20(6):. PubMed ID: 30917587
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
    Andréasson S; Breuer DK; Eksandh L; Ponjavic V; Frennesson C; Hiriyanna S; Filippova E; Yashar BM; Swaroop A
    Ophthalmic Genet; 2003 Dec; 24(4):215-23. PubMed ID: 14566651
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa.
    Li N; Dai S; Zhang L; Mei H; Wang L
    Mol Genet Metab; 2011 Apr; 102(4):488-93. PubMed ID: 21227725
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
    Haddad MF; Khabour OF; Abuzaideh KA; Shihadeh W
    Genet Mol Res; 2016 Jun; 15(2):. PubMed ID: 27323122
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Visual Function in Carriers of X-Linked Retinitis Pigmentosa.
    Comander J; Weigel-DiFranco C; Sandberg MA; Berson EL
    Ophthalmology; 2015 Sep; 122(9):1899-906. PubMed ID: 26143542
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
    Jin ZB; Gu F; Ma X; Nao-i N
    Arch Ophthalmol; 2007 Oct; 125(10):1407-12. PubMed ID: 17923551
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).
    Zhou Q; Yao F; Wang F; Li H; Chen R; Sui R
    Am J Med Genet A; 2018 Jan; 176(1):214-218. PubMed ID: 29135076
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene.
    Andréasson S; Ponjavic V; Abrahamson M; Ehinger B; Wu W; Fujita R; Buraczynska M; Swaroop A
    Am J Ophthalmol; 1997 Jul; 124(1):95-102. PubMed ID: 9222238
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical applications of microperimetry in RPGR-related retinitis pigmentosa: a review.
    Buckley TMW; Jolly JK; Josan AS; Wood LJ; Cehajic-Kapetanovic J; MacLaren RE
    Acta Ophthalmol; 2021 Dec; 99(8):819-825. PubMed ID: 33783139
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.
    Mihailovic N; Schimpf-Linzenbold S; Sattler I; Eter N; Heiduschka P
    Ophthalmic Genet; 2022 Oct; 43(5):679-684. PubMed ID: 35652150
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].
    Kousal B; Skalická P; Diblík P; Kuthan P; Langrová H; Lišková P
    Cesk Slov Oftalmol; 2013 Mar; 69(1):8-15. PubMed ID: 23822596
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.
    Bregnhøj J; Al-Hamdani S; Sander B; Larsen M; Schatz P
    Mol Vis; 2014; 20():852-63. PubMed ID: 24959064
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
    Aguirre GD; Yashar BM; John SK; Smith JE; Breuer DK; Hiriyanna S; Swaroop A; Milam AH
    Exp Eye Res; 2002 Oct; 75(4):431-43. PubMed ID: 12387791
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.
    Zhang Z; Dai H; Wang L; Tao T; Xu J; Sun X; Yang L; Li G
    BMC Ophthalmol; 2019 Nov; 19(1):240. PubMed ID: 31775781
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.