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Items: 11

1.

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

2.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A.

Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2239-46. doi: 10.1007/s00417-015-3174-0. Epub 2015 Oct 13. Review.

PMID:
26464178
3.

Gene therapy for Leber congenital amaurosis: advances and future directions.

Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA.

Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Review.

PMID:
22644094
4.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
5.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK.

J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

PMID:
25296579
6.

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease.

Zaneveld J, Wang F, Wang X, Chen R.

Sci China Life Sci. 2013 Feb;56(2):125-33. doi: 10.1007/s11427-013-4443-y. Epub 2013 Feb 8. Review.

7.

Review and update on the molecular basis of Leber congenital amaurosis.

Chacon-Camacho OF, Zenteno JC.

World J Clin Cases. 2015 Feb 16;3(2):112-24. doi: 10.12998/wjcc.v3.i2.112. Review.

8.

Advances in the genetics of eye diseases.

Chan S, Freund PR, MacDonald I.

Curr Opin Pediatr. 2013 Dec;25(6):645-52. doi: 10.1097/MOP.0000000000000026. Review.

PMID:
24126856
9.

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Kari JA, Bockenhauer D, Stanescu H, Gari M, Kleta R, Singh AK.

Am J Kidney Dis. 2014 Feb;63(2):304-10. doi: 10.1053/j.ajkd.2013.08.033. Epub 2013 Nov 13. Review.

PMID:
24239020
10.

CEP290 and the primary cilium.

Drivas TG, Bennett J.

Adv Exp Med Biol. 2014;801:519-25. doi: 10.1007/978-1-4614-3209-8_66. Review.

PMID:
24664739
11.

Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.

Erzurumluoglu AM, Shihab HA, Rodriguez S, Gaunt TR, Day IN.

Ann Hum Genet. 2016 May;80(3):187-96. doi: 10.1111/ahg.12150. Epub 2016 Mar 22. Review.

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