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Results: 1-25 | 26-26
Results: 1-25/26
Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins
Authors: Stohr, H Weber, BHF
Citation: H. Stohr et Bhf. Weber, Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins, GENOMICS, 74(3), 2001, pp. 377-384
Clinical electrophysiology of two rod pathways: normative values and clinical application
Authors: Scholl, HPN Langrova, H Weber, BHF Zrenner, E Apfelstedt-Sylla, E
Citation: Hpn. Scholl et al., Clinical electrophysiology of two rod pathways: normative values and clinical application, GR ARCH CL, 239(2), 2001, pp. 71-80
Evaluation of DHPLC in the analysis of hemophilia A
Authors: Oldenburg, J Ivaskevicius, V Rost, S Fregin, A White, K Holinski-Feder, E Muller, CR Weber, BHF
Citation: J. Oldenburg et al., Evaluation of DHPLC in the analysis of hemophilia A, J BIOCH BIO, 47(1-2), 2001, pp. 39-51
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus
Authors: Scholl, HPN Kremers, J Vonthein, R White, K Weber, BHF
Citation: Hpn. Scholl et al., L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus, INV OPHTH V, 42(6), 2001, pp. 1380-1389
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells
Authors: Molday, LL Hicks, D Sauer, CG Weber, BHF Molday, RS
Citation: Ll. Molday et al., Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells, INV OPHTH V, 42(3), 2001, pp. 816-825
Novel and recurrent mutations in the tyrosine gene and in the P gene in the German albino population (vol 195, pg 200, 1999)
Authors: Passmore, L Kasmann-Kellner, B Weber, BHF
Citation: L. Passmore et al., Novel and recurrent mutations in the tyrosine gene and in the P gene in the German albino population (vol 195, pg 200, 1999), KLIN MONATS, 218(4), 2001, pp. 208-208
Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration
Authors: Sauer, CG White, K Stohr, H Grimm, T Hutchinson, A Bernstein, PS Lewis, RA Simonelli, F Pauleikhoff, D Allikmets, R Weber, BHF
Citation: Cg. Sauer et al., Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration, BR J OPHTH, 85(8), 2001, pp. 969-975
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
Authors: White, K Marquardt, A Weber, BHF
Citation: K. White et al., VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies, HUM MUTAT, 15(4), 2000, pp. 301-308
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
Authors: Kramer, F White, K Pauleikhoff, D Gehrig, A Passmore, L Rivera, A Rudolph, G Kellner, U Andrassi, M Lorenz, B Rohrschneider, K Blankenagel, A Jurklies, B Schilling, H Schutt, F Holz, FG Weber, BHF
Citation: F. Kramer et al., Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration, EUR J HUM G, 8(4), 2000, pp. 286-292
Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: First experiences with patient perceptions, surveillance behaviorand acceptance of genetic testing
Authors: Hofferbert, S Worringen, U Backe, J Ruckert, EM White, K Faller, H Grimm, T Caffier, H Chang-Claude, J Weber, BHF
Citation: S. Hofferbert et al., Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: First experiences with patient perceptions, surveillance behaviorand acceptance of genetic testing, GEN COUNSEL, 11(2), 2000, pp. 127-146
CDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
Authors: Marquardt, A Stohr, H White, K Weber, BHF
Citation: A. Marquardt et al., CDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family, GENOMICS, 66(2), 2000, pp. 175-183
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer
Authors: Kramer, F White, K Kubbies, M Swisshelm, K Weber, BHF
Citation: F. Kramer et al., Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer, HUM GENET, 107(3), 2000, pp. 249-256
EST mining of the UniGene dataset to identify retina-specific genes
Authors: Stohr, H Mah, N Schulz, HL Gehrig, A Frohlich, S Weber, BHF
Citation: H. Stohr et al., EST mining of the UniGene dataset to identify retina-specific genes, CYTOG C GEN, 91(1-4), 2000, pp. 267-277
cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12 -> q13.1 which encodes a highly conserved, potential membrane-associated protein
Authors: Stohr, H Marquardt, A White, K Weber, BHF
Citation: H. Stohr et al., cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12 -> q13.1 which encodes a highly conserved, potential membrane-associated protein, CYTOG C GEN, 88(3-4), 2000, pp. 211-216
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
Authors: Rivera, A White, K Stohr, H Steiner, K Hemmrich, N Grimm, T Jurklies, B Lorenz, B Scholl, HPN Apfelstedt-Sylla, E Weber, BHF
Citation: A. Rivera et al., A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration, AM J HU GEN, 67(4), 2000, pp. 800-813
What can we learn about age-related macular degeneration from other retinal diseases?
Authors: Zack, DJ Dean, M Molday, RS Nathans, J Redmond, TM Stone, EM Swaroop, A Valle, D Weber, BHF
Citation: Dj. Zack et al., What can we learn about age-related macular degeneration from other retinal diseases?, MOL VIS, 5(24-35), 1999, pp. NIL_37-NIL_43
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
Authors: Sandoval, N Platzer, M Rosenthal, A Dork, T Bendix, R Skawran, B Stuhrmann, M Wegner, RD Sperling, K Banin, S Shiloh, Y Baumer, A Bernthaler, U Sennefelder, H Brohm, M Weber, BHF Schindler, D
Citation: N. Sandoval et al., Characterization of ATM gene mutations in 66 ataxia telangiectasia families, HUM MOL GEN, 8(1), 1999, pp. 69-79
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rslh) gene
Authors: Gehrig, AE Warneke-Wittstock, R Sauer, CG Weber, BHF
Citation: Ae. Gehrig et al., Isolation and characterization of the murine X-linked juvenile retinoschisis (Rslh) gene, MAMM GENOME, 10(3), 1999, pp. 303-307
Novel and recurrent mutations in the tyrosinase gene and the P gene in theGerman albino population
Authors: Passmore, LA Kaesmann-Kellner, B Weber, BHF
Citation: La. Passmore et al., Novel and recurrent mutations in the tyrosinase gene and the P gene in theGerman albino population, HUM GENET, 105(3), 1999, pp. 200-210
Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1)
Authors: Stohr, H Klein, J Gehrig, A Koehler, MR Jurklies, B Kellner, U Leo-Kottler, B Schmid, M Weber, BHF
Citation: H. Stohr et al., Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1), HUM GENET, 104(1), 1999, pp. 99-105
Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes
Authors: Chang-Claude, J Becher, H Caligo, M Eccles, D Evans, G Haites, N Hodgson, S Moller, P Weber, BHF Stoppa-Lyonnet, D
Citation: J. Chang-claude et al., Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes, DIS MARKER, 15(1-3), 1999, pp. 53-65
Frequency of BRCA1 mutation 5382insC in German breast cancer patients
Authors: Backe, J Hofferbert, S Skawran, B Dork, T Stuhrmann, M Karstens, JH Untch, M Meindl, A Burgemeister, R Chang-Claude, J Weber, BHF
Citation: J. Backe et al., Frequency of BRCA1 mutation 5382insC in German breast cancer patients, GYNECOL ONC, 72(3), 1999, pp. 402-406
DNA analysis of Huntington's disease - Five years of experience in Germany, Austria, and Switzerland
Authors: Laccone, F Engel, U Holinski-Feder, E Weigell-Weber, M Marczinek, K Nolte, D Morris-Rosendahl, DJ Zuhlke, C Fuchs, K Weirich-Schwaiger, H Schluter, G von Beust, G Vieira-Saecker, AMM Weber, BHF Riess, O
Citation: F. Laccone et al., DNA analysis of Huntington's disease - Five years of experience in Germany, Austria, and Switzerland, NEUROLOGY, 53(4), 1999, pp. 801-806
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis
Authors: Gehrig, A Weber, BHF Lorenz, B Andrassi, M
Citation: A. Gehrig et al., First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis, J MED GENET, 36(12), 1999, pp. 932-934
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
Authors: Gehrig, A White, K Lorenz, B Andrassi, M Clemens, S Weber, BHF
Citation: A. Gehrig et al., Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis, CLIN GENET, 55(6), 1999, pp. 461-465
Risultati: 1-25 | 26-26