Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteinsSTÖHR, Heidi; WEBER, Bernhard H. F.Genomics (San Diego, Calif.). 2001, Vol 74, Num 3, pp 377-384, issn 0888-7543Article

A BRCA2 germ-line mutation in familial pancreatic carcinomaWHITE, Karen; HELD, Karsten R; WEBER, Bernhard H. F et al.International journal of cancer. 2001, Vol 91, Num 5, pp 742-744, issn 0020-7136Article

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarraysSCHROEDER, Christopher; STUTZMANN, Fanny; WEBER, Bernhard H. F et al.Breast cancer research and treatment. 2010, Vol 122, Num 1, pp 287-297, issn 0167-6806, 11 p.Article

Lipofuscin-and Melanin-related Fundus Autofluorescence in Patients with ABCA4-associated Retinal DystrophiesKELLNER, Simone; KELLNER, Ulrich; WEBER, Bernhard H. F et al.American journal of ophthalmology. 2009, Vol 147, Num 5, pp 895-902, issn 0002-9394, 8 p.Article

Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM MutationRENNER, Agnes B; FIEBIG, Britta S; CROPP, Elke et al.Archives of ophthalmology (1960). 2009, Vol 127, Num 7, pp 907-912, issn 0003-9950, 6 p.Article

Mutationen im ABCA4-gen in einer familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19) = Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)RUDOLPH, Günther; KALPADAKIS, Petros; HARITOGLOU, Christos et al.Klinische Monatsblätter für Augenheilkunde. 2002, Vol 219, Num 8, pp 590-596, issn 0023-2165Article

L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatusSCHOLL, Hendrik P. N; KREMERS, Jan; VONTHEIN, Reinhard et al.Investigative ophthalmology & visual science. 2001, Vol 42, Num 6, pp 1380-1389, issn 0146-0404Article

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtypeSOFAT, Reecha; CASAS, Juan P; KHAN, Jane C et al.International journal of epidemiology. 2012, Vol 41, Num 1, pp 250-262, issn 0300-5771, 13 p.Article

Dextran and Protamine-Based Solid Lipid Nanoparticles as Potential Vectors for the Treatment of X-Linked Juvenile RetinoschisisDELGADO, Diego; POZO-RODRIGUEZ, Ana Del; ANGELES SOLINIS, Maria et al.Human gene therapy. 2012, Vol 23, Num 4, pp 345-355, issn 1043-0342, 11 p.Article

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer riskRONGXI YANG; SCHLEHE, Bettina; ARNOLD, Norbert et al.Breast cancer research and treatment. 2010, Vol 121, Num 3, pp 693-702, issn 0167-6806, 10 p.Article

SNPs in ultraconserved elements and familial breast cancer riskRONGXI YANG; FRANK, Bernd; WEBER, Bernhard H. F et al.Carcinogenesis (New York. Print). 2008, Vol 29, Num 2, pp 351-355, issn 0143-3334, 5 p.Article

Long-Term Course and Mutational Spectrum of spatacsin-Linked Spastic ParaplegiaHEHR, Ute; BAUER, Peter; HEHR, Andreas et al.Annals of neurology. 2007, Vol 62, Num 6, pp 656-665, issn 0364-5134, 10 p.Article

Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1SCHOLL, Hendrik P. N; BESCH, Dorothea; VONTHEIN, Reinhard et al.Investigative ophthalmology & visual science. 2002, Vol 43, Num 4, pp 1248-1256, issn 0146-0404Article

Genetic variants within miR-126 and miR-335 are not associated with breast cancer riskRONGXI YANG; DICK, Michelle; SCHOTT, Sarah et al.Breast cancer research and treatment. 2011, Vol 127, Num 2, pp 549-554, issn 0167-6806, 6 p.Article

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle GlaucomaPASUTTO, Francesca; MATSUMOTO, Tomoya; KLAVER, Caroline C. W et al.American journal of human genetics. 2009, Vol 85, Num 4, pp 447-456, issn 0002-9297, 10 p.Article

Association of LOXL1 Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation GlaucomaPASUTTO, Francesca; KRUMBIEGEL, Mandy; MARDIN, Christian Y et al.Investigative ophthalmology & visual science. 2008, Vol 49, Num 4, pp 1459-1463, issn 0146-0404, 5 p.Article

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCTRENNER, Agnes B; KELLNER, Ulrich; FIEBIG, Britta et al.Documenta ophthalmologica. 2008, Vol 116, Num 2, pp 97-109, issn 0012-4486, 13 p.Article

Quantifying fixation in patients with Stargardt diseaseREINHARD, Jens; MESSIAS, André; TRAUZETTEL-KLOSINSKI, Susanne et al.Vision research (Oxford). 2007, Vol 47, Num 15, pp 2076-2085, issn 0042-6989, 10 p.Article

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancerWIRTENBERGER, Michael; TCHATCHOU, Sandrine; WEBER, Bernhard H. F et al.Carcinogenesis (New York. Print). 2006, Vol 27, Num 11, pp 2201-2208, issn 0143-3334, 8 p.Article

Late onset is common in best macular dystrophy associated with VMD2 gene mutationsRENNER, Agnes B; TILLACK, Hilmar; KRAUS, Hannelore et al.Ophthalmology (Rochester, MN). 2005, Vol 112, Num 4, pp 586-592, issn 0161-6420, 7 p.Article

Meta-analysis of genome scans of age-related macular degenerationFISHER, Sheila A; ABECASIS, Goncalo R; SCHULTZ, Dennis W et al.Human molecular genetics (Print). 2005, Vol 14, Num 15, pp 2257-2264, issn 0964-6906, 8 p.Article

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease riskRIVERA, Andrea; FISHER, Sheila A; FRITSCHE, Lars G et al.Human molecular genetics (Print). 2005, Vol 14, Num 21, pp 3227-3236, issn 0964-6906, 10 p.Article

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in stargardt disease and age-related macular degenerationRIVERA, Andrea; WHITE, Karen; WEBER, Bernhard H. F et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 800-813, issn 0002-9297Article

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)FRITSCHE, Lars G; LAUER, Nadine; SKERKA, Christine et al.Human molecular genetics (Print). 2010, Vol 19, Num 23, pp 4694-4704, issn 0964-6906, 11 p.Article

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth EruptionDECKER, Eva; STELLZIG-EISENHAUER, Angelika; FIEBIG, Britta S et al.American journal of human genetics. 2008, Vol 83, Num 6, pp 781-786, issn 0002-9297, 6 p.Article