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Results: 1-22 |
Results: 22
Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(R)(exo-) DNA polymerase and RFLP analysis
Authors: Jacobi, FK Meyer, J Pusch, CM Wissinger, B
Citation: Fk. Jacobi et al., Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(R)(exo-) DNA polymerase and RFLP analysis, MUT RES-F M, 478(1-2), 2001, pp. 141-151
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders
Authors: Pesch, K Tomiuk, J Broghammer, M Zrenner, E Apfelstedt-Sylla, E Jacobi, FK Wissinger, B Pusch, CM
Citation: K. Pesch et al., Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders, INT J MOL M, 8(1), 2001, pp. 53-58
Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity
Authors: Pusch, CM Maurer, J Ramser, J Tomiuk, J Achatz, H Pesch, K Lichtner, P Apfelstedt-Sylla, E Jacobi, FK Berger, W Meindl, A Wissinger, B
Citation: Cm. Pusch et al., Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity, INT J MOL M, 7(2), 2001, pp. 155-161
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
Authors: Pesch, UEA Leo-Kottler, B Mayor, S Jurklies, B Kellner, U Apfelstedt-Sylla, E Zrenner, E Alexander, C Wissinger, B
Citation: Uea. Pesch et al., OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance, HUM MOL GEN, 10(13), 2001, pp. 1359-1368
Manifestations of rod monochromacy
Authors: Jagle, H Kohl, S Apfelstedt-Sylla, E Wissinger, B Sharpe, LT
Citation: H. Jagle et al., Manifestations of rod monochromacy, COL RES APP, 26, 2001, pp. S96-S99
Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs
Authors: Scholl, HPN Kremers, J Wissinger, B
Citation: Hpn. Scholl et al., Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs, CURR EYE R, 22(3), 2001, pp. 221-228
Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy
Authors: Jacobi, FK Leo-Kottler, B Mittelviefhaus, K Zrenner, E Meyer, J Pusch, CM Wissinger, B
Citation: Fk. Jacobi et al., Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy, INV OPHTH V, 42(6), 2001, pp. 1208-1214
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene
Authors: Scholl, HPN Langrova, H Pusch, CM Wissinger, B Zrenner, E Apfelstedt-Sylla, E
Citation: Hpn. Scholl et al., Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene, INV OPHTH V, 42(11), 2001, pp. 2728-2736
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain
Authors: Wittig, I Augstein, P Brown, GK Fujii, T Rotig, A Rustin, P Munnich, A Seibel, P Thorburn, D Wissinger, B Tamboom, K Metspalu, A Lamantea, E Zeviani, M Wehnert, MS
Citation: I. Wittig et al., Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain, J INH MET D, 24(1), 2001, pp. 15-27
CNGA3 mutations in hereditary cone photoreceptor disorders
Authors: Wissinger, B Gamer, D Jagle, H Giorda, R Marx, T Mayer, S Tippmann, S Broghammer, M Jurklies, B Rosenberg, T Jacobson, SG Sener, EC Tatlipinar, S Hoyng, CB Castellan, C Bitoun, P Andreasson, S Rudolph, G Kellner, U Lorenz, B Wolff, G Verellen-Dumoulin, C Schwartz, M Cremers, FPM Apfelstedt-ylla, E Zrenner, E Salati, R Sharpe, LT Kohl, S
Citation: B. Wissinger et al., CNGA3 mutations in hereditary cone photoreceptor disorders, AM J HU GEN, 69(4), 2001, pp. 722-737
Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
Authors: den Hollander, AI Heckenlively, JR van den Born, LI de Kok, YJM van der Velde-Visser, SD Kellner, U Jurklies, B van Schooneveld, MJ Blankenagel, A Rohrschneider, K Wissinger, B Cruysberg, JRM Deutman, AF Brunner, HG Apfeldstedt-Sylla, E Hoyng, CB Cremers, FPM
Citation: Ai. Den Hollander et al., Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene, AM J HU GEN, 69(1), 2001, pp. 198-203
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Authors: Pusch, CM Zeitz, C Brandau, O Pesch, K Achatz, H Feil, S Scharfe, C Maurer, J Jacobi, FK Pinckers, A Andreasson, S Hardcastle, A Wissinger, B Berger, W Meindl, A
Citation: Cm. Pusch et al., The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein, NAT GENET, 26(3), 2000, pp. 324-327
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Authors: Alexander, C Votruba, M Pesch, UEA Thiselton, DL Mayer, S Moore, A Rodriguez, M Kellner, U Leo-Kottler, B Auburger, G Bhattacharya, SS Wissinger, B
Citation: C. Alexander et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, NAT GENET, 26(2), 2000, pp. 211-215
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
Authors: Kohl, S Baumann, B Broghammer, M Jagle, H Sieving, P Kellner, U Spegal, R Anastasi, M Zrenner, E Sharpe, LT Wissinger, B
Citation: S. Kohl et al., Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21, HUM MOL GEN, 9(14), 2000, pp. 2107-2116
A case of liver optic neuropathy with a new point mutation in the cytochrome b gene
Authors: Besch, D Wissinger, B Zrenner, E Leo-Kottler, B
Citation: D. Besch et al., A case of liver optic neuropathy with a new point mutation in the cytochrome b gene, OPHTHALMOLO, 97(1), 2000, pp. 27-32
A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls
Authors: Thieme, H Wissinger, B Jandeck, C Christ-Adler, M Kraus, H Kellner, U Foerster, MH
Citation: H. Thieme et al., A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls, GR ARCH CL, 237(9), 1999, pp. 714-719
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
Authors: Besch, D Leo-Kottler, B Zrenner, E Wissinger, B
Citation: D. Besch et al., Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene, GR ARCH CL, 237(9), 1999, pp. 745-752
Direct visual resolution of gene copy number in the human photopigment gene array
Authors: Wolf, S Sharpe, LT Schmidt, HJA Knau, H Weitz, S Kioschis, P Poustka, A Zrenner, E Lichter, P Wissinger, B
Citation: S. Wolf et al., Direct visual resolution of gene copy number in the human photopigment gene array, INV OPHTH V, 40(7), 1999, pp. 1585-1589
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
Authors: Seeliger, MW Biesalski, HK Wissinger, B Gollnick, H Gielen, S Frank, J Beck, S Zrenner, E
Citation: Mw. Seeliger et al., Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis, INV OPHTH V, 40(1), 1999, pp. 3-11
Late onset of Leber's hereditary optic neuropathy in HIV infection
Authors: Luke, C Cornely, OA Fricke, J Lehrer, E Wissinger, B Brunner, R
Citation: C. Luke et al., Late onset of Leber's hereditary optic neuropathy in HIV infection, BR J OPHTH, 83(10), 1999, pp. 1204-1205
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein
Authors: Biesalski, HK Frank, J Beck, SC Heinrich, F Illek, B Reifen, R Gollnick, H Seeliger, MW Wissinger, B Zrenner, E
Citation: Hk. Biesalski et al., Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein, AM J CLIN N, 69(5), 1999, pp. 931-936
The role of the peripherin/RDS gene in retinal dystrophies
Authors: Kohl, S Giddings, I Besch, D Apfelstedt-Sylla, E Zrenner, E Wissinger, B
Citation: S. Kohl et al., The role of the peripherin/RDS gene in retinal dystrophies, ACT ANATOM, 162(2-3), 1998, pp. 75-84
Risultati: 1-22 |