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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

Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7)SCHULZ, Heidi L; STOHR, Heidi; WEBER, Bernhard H. F et al.Neuroscience letters. 2002, Vol 326, Num 1, pp 37-40, issn 0304-3940Article

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

Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an arg195Leu mutation in the peripherin/RDS geneKEILHAUER, Claudia N; MEIGEN, Thomas; WEBER, Bernhard H. F et al.Archives of ophthalmology (1960). 2006, Vol 124, Num 7, pp 1020-1027, issn 0003-9950, 8 p.Article

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

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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

Kjellin's syndrome: Fundus autofluorescence, angiographic, and electrophysiologic findingsFRISCH, Inez B; HAAG, Peter; STEFFEN, Heimo et al.Ophthalmology (Rochester, MN). 2002, Vol 109, Num 8, pp 1484-1491, issn 0161-6420Article

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancerKRÄMER, Franziska; WHITE, Karen; KUBBIES, Manfred et al.Human genetics. 2000, Vol 107, Num 3, pp 249-256, issn 0340-6717Article

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiencyFRIEDRICH, Ulrike; MYERS, Connie A; FRITSCHE, Lars G et al.Human molecular genetics (Print). 2011, Vol 20, Num 7, pp 1387-1399, issn 0964-6906, 13 p.Article

Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer riskYANG, Rongxi; BOWANG CHEN; MEINDL, Alfons et al.Breast cancer research and treatment. 2009, Vol 118, Num 2, pp 407-413, issn 0167-6806, 7 p.Article

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolateFISHER, Sheila A; RIVERA, Andrea; FRITSCHE, Lars G et al.British journal of ophthalmology. 2007, Vol 91, Num 5, pp 576-578, issn 0007-1161, 3 p.Article

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

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The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisisFRIEDRICH, Ulrike; STÖHR, Heidi; HILFINGER, Daniela et al.Human molecular genetics (Print). 2011, Vol 20, Num 6, pp 1132-1142, issn 0964-6906, 11 p.Article

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseMETZGER, Silke; BAIUER, Peter; MELEGH, Bela et al.Neurogenetics (Oxford. Print). 2006, Vol 7, Num 1, pp 27-30, issn 1364-6745, 4 p.Article

Hereditary X-linked juvenile retinoschisise a review of the role of Müller cellsMOOY, Cornelia M; VAN DEN BORN, L. Ingeborgh; BAARSMA, Seerp et al.Archives of ophthalmology (1960). 2002, Vol 120, Num 7, pp 979-984, issn 0003-9950Article

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlationGERTH, Christina; ANDRASSI-DARIDA, Monika; BOCK, Markus et al.Graefe's archive for clinical and experimental ophthalmology. 2002, Vol 240, Num 8, pp 628-638, issn 0721-832XArticle