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Items: 1 to 20 of 35

1.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.

Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548.

PMID:
22570351
2.

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT.

PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6.

3.

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
4.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Papon JF, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, Kaplan J, Rozet JM, Escudier E.

J Med Genet. 2010 Dec;47(12):829-34. doi: 10.1136/jmg.2010.077883. Epub 2010 Aug 30.

5.

Novel RDH12 sequence variations in Leber congenital amaurosis.

Sodi A, Caputo R, Passerini I, Bacci GM, Menchini U.

J AAPOS. 2010 Aug;14(4):349-51. doi: 10.1016/j.jaapos.2010.04.010.

PMID:
20736127
6.

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336.

7.

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Ugur Iseri SA, Durlu YK, Tolun A.

Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. Epub 2010 Jun 2.

8.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Oct 10 [updated 2013 Aug 1].

9.

Familial Hyperinsulinism.

Glaser B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Aug 19 [updated 2013 Jan 24].

10.

Joubert Syndrome.

Parisi M, Glass I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jul 9 [updated 2017 Jun 29].

11.

Leber Congenital Amaurosis.

Weleber RG, Francis PJ, Trzupek KM, Beattie C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jul 7 [updated 2013 May 2].

12.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jan 22 [updated 2012 Aug 23].

13.

Alström Syndrome.

Marshall JD, Paisey RB, Carey C, Macdermott S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Feb 7 [updated 2012 May 31].

14.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A.

J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. doi: 10.1016/j.jfo.2009.11.009. Epub 2010 Jan 6. French.

15.

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
16.

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Dec;28(12):1245.

PMID:
18000884
17.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.

PMID:
17962469
18.

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.

Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26.

19.

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A.

Hum Mutat. 2007 Nov;28(11):1074-83.

20.

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.

Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K.

Vision Res. 2007 Jul;47(15):2055-66. Epub 2007 May 21.

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