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ARVO Annual Meeting Abstract September 2016

Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin.

Marta Owczarek-Lipska; Charlotte Reiff; Georg Spital; Carsten Roeger; Hebke Hinz; Christoph Jüschke; Holger Thiele; Janine Altmüller; Peter Nürnberg; Romain Da Costa; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3141.

ARVO Annual Meeting Abstract June 2015

PEX6 mutation causing deafblindness with enamel dysplasia and microcephaly

Hanno Joern Bolz; Raoul Heller; Michaela Thoenes; Gudrun Nürnberg; Peter Nürnberg; Srikanth Karnati; Daniel Swan; Eveline Baumgart-Vogt; Maha Zaki

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5986.

ARVO Annual Meeting Abstract April 2009

Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness Syndrome is Caused by Mutation in the Cohen Syndrome Gene, Vps13b

H. J. Bolz; R. Slim; G. Nürnberg; I. Ebermann; P. Nürnberg; A. Mégarbané

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4101.

ARVO Annual Meeting Abstract May 2008

Identification of a Novel Gene Mutated in Patients With Juvenile Cataract Associated With Microcornea and Glucosuria

B. Kloeckener; G. Nürnberg; J. Neidhardt; C. Zeitz; S. Labs; K. Vandekerckhove; P. Nürnberg; W. Berger

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1306.

ARVO Annual Meeting Abstract May 2007

Non-Syndromic Autosomal Recessive Cone-Rod Dystrophy in a Consanguineous Family Carrying a Novel Splice Site Mutation in the MERTK Gene

H. P. Scholl; P. Charbel Issa; I. Ebermann; M. Walger; G. Nurnberg; R. Lang-Roth; C. Becker; P. Nurnberg; F. G. Holz; H. J. Bolz

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):3207.

ARVO Annual Meeting Abstract May 2005

Homozygosity Mapping of Pigmentary Retinopathy, Ataxia and Sudden Death to a Novel Locus on Chromsome 5q

A.H. Nemeth; S.M. Downes; M. Pike; G. Nürnberg; P. Nürnberg

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3830.

ARVO Annual Meeting Abstract May 2004

Aey17, a new small–eye phenotype caused by a mutation in Fgf10

J. Graw; B. Meyer; P. Nürnberg; D. Soewarto; H. Fuchs; M. Hrabé de Angelis

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):1018.

ARVO Annual Meeting Abstract December 2002

Identification of a New Mouse Mutation with Abnormalities of the Eye, AEY12

J Graw; J Löster; D Soewarto; H Fuchs; B Meyer; P Nürnberg; E Wolf; R Balling; M Hrabé de Angelis

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):3601.

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