Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2005

B

Balci, B. and Uyanik, Goekhan and Dincer, Pervin and Gross, Claudia and Willer, Tobias and Talim, B. and Haliloglu, G. and Kale, G. and Hehr, Ute and Winkler, Juergen and Topaloglu, H. (2005) An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. NEUROMUSCULAR DISORDERS, 15 (4). pp. 271-275. ISSN 0960-8966, 1873-2364

F

Fisher, Sheila A. and Abecasis, G. R. and Yashar, B. M. and Zareparsi, S. and Swaroop, A. and Iyengar, S.K. and Klein, B. E. K. and Klein, R. and Lee, K. E. and Majewski, J. and Schultz, D. W. and Klein, M. L. and Seddon, J. M. and Santangelo, S. L. and Weeks, D. E. and Conley, Y. P. and Mah, T. S. and Schmidt, S. and Haines, J. L. and Pericak-Vance, M. A. and Gorin, M. B. and Schulz, H. L. and Pardi, F. and Lewis, C. M. and Weber, Bernhard H. F. (2005) Meta-analysis of genome scans of age-related macular degeneration. HUMAN MOLECULAR GENETICS, 14 (15). pp. 2257-2264. ISSN 0964-6906

M

Meyer, Sascha and Struffert, T. and Uyanik, Goekhan and Oehl-Jaschkowitz, B. and Hehr, U. and Shamdeen, M. G. (2005) Congenital muscular dystrophies: Muscle-eye-brain disease. KLINISCHE PADIATRIE, 217 (2). pp. 68-69. ISSN 0300-8630

Min, Seok H. and Molday, L. L. and Seeliger, M. W. and Dinculescu, A. and Timmers, A. M. and Janssen, Andreas and Tonagel, F. and Tanimoto, N. and Weber, Bernhard H. F. and Molday, R. S. and Hauswirth, W. W. (2005) Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. MOLECULAR THERAPY, 12 (4). pp. 644-651. ISSN 1525-0016

R

Rivera, Andrea and Fisher, S. A. and Fritsche, L. G. and Keilhauer, C. N. and Lichtner, P. and Meitinger, T. and Weber, Bernhard H. F. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. HUMAN MOLECULAR GENETICS, 14 (21). pp. 3227-3236. ISSN 0964-6906, 1460-2083

S

Scholl, Hendrik P. N. and Weber, Bernhard H. F. and Nothen, M. M. and Wienker, T. and Holz, F. G. (2005) Y402H polymorphism in complement factor H and age-related macular degeneration (AMD). OPHTHALMOLOGE, 102 (11). 1029-+. ISSN 0941-293X, 1433-0423

Stoehr, H. and Milenkowic, V. and Weber, Bernhard H. F. (2005) VMD2 and its role in Best's disease and other retinopathies. OPHTHALMOLOGE, 102 (2). pp. 116-121. ISSN 0941-293X, 1433-0423

W

Wohlrab, G. and Uyanik, Goekhan and Gross, Claudia and Hehr, Ute and Winkler, Juergen and Schmitt, B. and Boltshauser, E. (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. EUROPEAN JOURNAL OF PEDIATRICS, 164 (5). pp. 326-328. ISSN 0340-6199, 1432-1076

Ö

Ölmez, A. and Uyanik, G. and Gross, C. and Winner, B. and Özgül, R. K. and Cirak, S. and Hehr, U. and Winkler, J. and Topaloglu, H. (2005) A cross section of autosomal recessive hereditary spastic paraplegias. In: 10th International Congress of the World Muscle Society, September 28-October 1, 2005, Iguassu Falls, Brazil.