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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

606 related articles for article (PubMed ID: 16055928)

  • 1. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.
    Moore A; Escudier E; Roger G; Tamalet A; Pelosse B; Marlin S; Clément A; Geremek M; Delaisi B; Bridoux AM; Coste A; Witt M; Duriez B; Amselem S
    J Med Genet; 2006 Apr; 43(4):326-33. PubMed ID: 16055928
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RPGR mutations might cause reduced orientation of respiratory cilia.
    Bukowy-Bieryłło Z; Ziętkiewicz E; Loges NT; Wittmer M; Geremek M; Olbrich H; Fliegauf M; Voelkel K; Rutkiewicz E; Rutland J; Morgan L; Pogorzelski A; Martin J; Haan E; Berger W; Omran H; Witt M
    Pediatr Pulmonol; 2013 Apr; 48(4):352-63. PubMed ID: 22888088
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
    Failly M; Bartoloni L; Letourneau A; Munoz A; Falconnet E; Rossier C; de Santi MM; Santamaria F; Sacco O; DeLozier-Blanchet CD; Lazor R; Blouin JL
    J Med Genet; 2009 Apr; 46(4):281-6. PubMed ID: 19357118
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
    Zariwala M; Noone PG; Sannuti A; Minnix S; Zhou Z; Leigh MW; Hazucha M; Carson JL; Knowles MR
    Am J Respir Cell Mol Biol; 2001 Nov; 25(5):577-83. PubMed ID: 11713099
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
    Pelletier V; Jambou M; Delphin N; Zinovieva E; Stum M; Gigarel N; Dollfus H; Hamel C; Toutain A; Dufier JL; Roche O; Munnich A; Bonnefont JP; Kaplan J; Rozet JM
    Hum Mutat; 2007 Jan; 28(1):81-91. PubMed ID: 16969763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.
    Krawczyński MR; Dmeńska H; Witt M
    J Appl Genet; 2004; 45(1):107-10. PubMed ID: 14960774
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Al-Maskari A; O'grady A; Pal B; McKibbin M
    Eye (Lond); 2009 Mar; 23(3):519-21. PubMed ID: 19218993
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ciliary defects and genetics of primary ciliary dyskinesia.
    Escudier E; Duquesnoy P; Papon JF; Amselem S
    Paediatr Respir Rev; 2009 Jun; 10(2):51-4. PubMed ID: 19410201
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H; Diez Montero C; Villanueva Gómez A; Lobo Valentin R; Montero-Moreno JA
    Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PCD and RP: X-linked inheritance of both disorders?
    Krawczyński MR; Witt M
    Pediatr Pulmonol; 2004 Jul; 38(1):88-9. PubMed ID: 15170879
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a novel
    Kolkova Z; Durdik P; Holubekova V; Durdikova A; Jesenak M; Banovcin P
    Front Pediatr; 2024; 12():1339664. PubMed ID: 38333087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DNAI1 mutations explain only 2% of primary ciliary dykinesia.
    Failly M; Saitta A; Muñoz A; Falconnet E; Rossier C; Santamaria F; de Santi MM; Lazor R; DeLozier-Blanchet CD; Bartoloni L; Blouin JL
    Respiration; 2008; 76(2):198-204. PubMed ID: 18434704
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y; Dong B; Hu AL; Cui TT; Zheng YY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 38(10):1983-97. PubMed ID: 9331262
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
    Cehajic-Kapetanovic J; McClements ME; Whitfield J; Shanks M; Clouston P; MacLaren RE
    JAMA Ophthalmol; 2020 Nov; 138(11):1151-1158. PubMed ID: 32970112
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S; Fishman GA; Swaroop A; Branham KE; Lindeman M; Othman M; Weleber RG
    Arch Ophthalmol; 2008 Mar; 126(3):379-84. PubMed ID: 18332319
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
    Tzu JH; Arguello T; Berrocal AM; Berrocal M; Weisman AD; Liu M; Hess D; Caputo M; Goldberg JL; Feuer WJ; Stone EM; Lam BL
    Ophthalmic Genet; 2015; 36(4):321-6. PubMed ID: 24555744
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD; Bowne SJ; Sullivan LS; Lewis RA; Wheaton DK; Birch DG; Branham KE; Heckenlively JR; Daiger SP
    Invest Ophthalmol Vis Sci; 2013 Feb; 54(2):1411-6. PubMed ID: 23372056
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
    Fliegauf M; Olbrich H; Horvath J; Wildhaber JH; Zariwala MA; Kennedy M; Knowles MR; Omran H
    Am J Respir Crit Care Med; 2005 Jun; 171(12):1343-9. PubMed ID: 15750039
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 31.