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Results: 12

1.

Towards a Quantitative OCT Image Analysis.

Garcia Garrido M, Beck SC, Mühlfriedel R, Julien S, Schraermeyer U, Seeliger MW.

PLoS One. 2014 Jun 13;9(6):e100080. doi: 10.1371/journal.pone.0100080. eCollection 2014.

PMID:
24927180
[PubMed - in process]
Free PMC Article
2.

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P.

Biomed Res Int. 2013;2013:198089. doi: 10.1155/2013/198089. Epub 2012 Dec 26.

PMID:
23484092
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

N-glycoproteome of E14.Tg2a mouse embryonic stem cells.

Sun B, Ma L, Yan X, Lee D, Alexander V, Hohmann LJ, Lorang C, Chandrasena L, Tian Q, Hood L.

PLoS One. 2013;8(2):e55722. doi: 10.1371/journal.pone.0055722. Epub 2013 Feb 6.

PMID:
23405203
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23393028
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.

Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2012;18:1226-37. Epub 2012 May 10.

PMID:
22665969
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.

Invest Ophthalmol Vis Sci. 2012 Jun 8;53(7):3463-72. doi: 10.1167/iovs.12-9519.

PMID:
22531706
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Review.

PMID:
22065545
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S.

Arch Ophthalmol. 2011 Oct;129(10):1351-7. doi: 10.1001/archophthalmol.2011.267.

PMID:
21987678
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
21901789
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.

Hebrard M, Manes G, Bocquet B, Meunier I, Coustes-Chazalette D, Hérald E, Sénéchal A, Bolland-Augé A, Zelenika D, Hamel CP.

Eur J Hum Genet. 2011 Dec;19(12):1256-63. doi: 10.1038/ejhg.2011.133. Epub 2011 Jul 27.

PMID:
21792230
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM.

Mol Vis. 2009 Sep 4;15:1781-7.

PMID:
19753312
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Abbasi AH, Garzozi HJ, Ben-Yosef T.

Mol Vis. 2008 Apr 21;14:675-82.

PMID:
18432314
[PubMed - indexed for MEDLINE]
Free PMC Article

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