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Items: 1 to 20 of 270

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. Epub 2005 Jul 31.

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. doi: 10.1002/ppul.22632. Epub 2012 Aug 6.

PMID:
22888088
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. doi: 10.1136/jmg.2008.061176.

PMID:
19357118
4.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

5.

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.

Am J Ophthalmol. 2003 Oct;136(4):678-87.

PMID:
14516808
6.

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.

Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.

Mol Vis. 2007 Aug 30;13:1548-54.

PMID:
17893654
7.

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H.

Am J Hum Genet. 2008 Nov;83(5):547-58. doi: 10.1016/j.ajhg.2008.10.001. Epub 2008 Oct 23.

8.

[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].

Li ZL, Zhuang WJ, Zhao W, Zhang XF, Wang J, Meng RH, Rong WN, Sheng XL.

Zhonghua Yan Ke Za Zhi. 2011 Jun;47(6):516-20. Chinese.

PMID:
21914266
9.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
10.

Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.

Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.

Ophthalmic Genet. 2001 Sep;22(3):187-94.

PMID:
11559860
11.

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 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.

12.

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.

PMID:
11713099
13.

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.

PMID:
16969763
14.

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.

Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.

PMID:
20021257
15.

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.

PMID:
14960774
16.

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D.

Am J Med Genet A. 2007 Jun 1;143A(11):1150-8.

PMID:
17480003
17.

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. doi: 10.1038/eye.2008.427. Epub 2009 Feb 13.

PMID:
19218993
18.

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.

PMID:
14566651
19.

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. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review.

20.

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.

PMID:
17923551

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