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Results: 1 to 20 of 31

1.

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Mar 24;16:511-7.

PMID:
20361013
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Kaul H, Riazuddin SA, Yasmeen A, Mohsin S, Khan M, Nasir IA, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Feb 16;16:240-5.

PMID:
20161816
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.

PMID:
19896113
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M.

Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.

PMID:
19896109
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR.

Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.

PMID:
19878917
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16.

PMID:
18487375
[PubMed - indexed for MEDLINE]
Free Article
7.

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.

Audo I, Robson AG, Holder GE, Moore AT.

Surv Ophthalmol. 2008 Jan-Feb;53(1):16-40. doi: 10.1016/j.survophthal.2007.10.010. Review.

PMID:
18191655
[PubMed - indexed for MEDLINE]
8.

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.

Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R.

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5505-13.

PMID:
17122142
[PubMed - indexed for MEDLINE]
Free Article
9.

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W.

Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23.

PMID:
16960802
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35.

PMID:
16249515
[PubMed - indexed for MEDLINE]
Free Article
11.

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71.

PMID:
16123441
[PubMed - indexed for MEDLINE]
Free Article
12.

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS.

Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. Epub 2005 Mar 21.

PMID:
15781871
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

[Analysis of the human electroretinogram].

SCHUBERT G, BORNSCHEIN H.

Ophthalmologica. 1952 Jun;123(6):396-413. Undetermined Language. No abstract available.

PMID:
14957416
[PubMed - indexed for MEDLINE]
14.

The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond.

Schnetkamp PP.

Pflugers Arch. 2004 Feb;447(5):683-8. Epub 2003 May 6. Review.

PMID:
14770312
[PubMed - indexed for MEDLINE]
15.

Electroretinography in cases of night blindness.

RIGGS LA.

Am J Ophthalmol. 1954 Jul;38(1:2):70-8. No abstract available.

PMID:
13180620
[PubMed - indexed for MEDLINE]
16.

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1971-9.

PMID:
12037007
[PubMed - indexed for MEDLINE]
Free Article
17.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.

Nat Genet. 2000 Nov;26(3):324-7.

PMID:
11062472
[PubMed - indexed for MEDLINE]
18.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.

Nat Genet. 2000 Nov;26(3):319-23.

PMID:
11062471
[PubMed - indexed for MEDLINE]
19.

Physiological and molecular characterization of the Na+/Ca2+ exchanger in human platelets.

Kimura M, Jeanclos EM, Donnelly RJ, Lytton J, Reeves JP, Aviv A.

Am J Physiol. 1999 Sep;277(3 Pt 2):H911-7.

PMID:
10484410
[PubMed - indexed for MEDLINE]
Free Article
20.

Spatial and temporal expression of AP-1 responsive rod photoreceptor genes and bZIP transcription factors during development of the rat retina.

He L, Campbell ML, Srivastava D, Blocker YS, Harris JR, Swaroop A, Fox DA.

Mol Vis. 1998 Dec 31;4:32.

PMID:
9873070
[PubMed - indexed for MEDLINE]
Free Article

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