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Items: 8

1.

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B.

Mol Vis. 2015 Mar 15;21:306-15. eCollection 2015.

2.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R.

Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14.

3.
4.

Late onset retinitis pigmentosa.

Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP.

Ophthalmology. 2011 Dec;118(12):2523-4. doi: 10.1016/j.ophtha.2011.07.030. No abstract available.

PMID:
22136677
5.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025.

PMID:
21310915
6.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM.

Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203.

PMID:
20104588
7.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R.

Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5. Erratum in: Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added].

8.

A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.

Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S, Koide SS.

J Mol Med (Berl). 2003 Jun;81(6):380-7. Epub 2003 May 8.

PMID:
12736779
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