PuSH - Publication Server of Helmholtz Zentrum München

15 Records found.
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1.
Ullah, A.* et al.: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Mol. Vis. 23, 482-494 (2017)
2.
Puk, O. et al.: Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon. Mol. Vis. 19, 877-884 (2013)
3.
Veiga-Crespo, P.* et al.: Phenotypic map of porcine retinal ganglion cells. Mol. Vis. 19, 904-916 (2013)
4.
Roshan, M.* et al.: Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. Mol. Vis. 18, 181-193 (2012)
5.
Steinhart, M.R.* et al.: Mice with an induced mutation in collagen 8A2 develop larger eyes and are resistant to retinal ganglion cell damage in an experimental glaucoma model. Mol. Vis. 18, 1093-1106 (2012)
6.
Puk, O. ; Ahmad, N. ; Wagner, S. ; Hrabě de Angelis, M. & Graw, J.: Microphakia and congenital cataract formation in a novel Lim2C51R mutant mouse. Mol. Vis. 17, 1164-1171 (2011)
7.
Siemiatkowska, A.M.* et al.: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011)
8.
Azam, M.* et al.: Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol. Vis. 16, 774-781 (2010)
9.
Roshan, M.* et al.: A novel human CRYGD mutation in a juvenile autosomal dominant cataract. Mol. Vis. 16, 887-896 (2010)
10.
Santhiya, S.T.* et al.: Molecular analysis of cataract families in India: New mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol. Vis. 16, 1837-1847 (2010)
11.
Graw, J. et al.: The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol. Vis. 15, 1881-1885 (2009)
12.
Schmidt, W.* ; Klopp, N. ; Illig, T. & Graw, J.: A novel GJA8 mutation causing a recessive triangular cataract. Mol. Vis. 14, 851-856 (2008)
13.
Pauli, S.* et al.: Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Mol. Vis. 13, 962-967 (2007)
14.
Santhiya, S.T.* et al.: Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Mol. Vis. 12, 768-773 (2006)
15.
Jablonski, M.M.* et al.: An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol. Vis. 11, 569-581 (2005)