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Results: 1-15 |
Results: 15
DETECTION OF ALTERATIONS IN ALL 3 EXONS OF THE PERIPHERIN RDS GENE INSWEDISH PATIENTS WITH RETINITIS-PIGMENTOSA USING AN EFFICIENT DGGE SYSTEM/
Authors: EKSTROM U PONJAVIC V ANDREASSON S EHINGER B NILSSONEHLE P ABRAHAMSON M
Citation: U. Ekstrom et al., DETECTION OF ALTERATIONS IN ALL 3 EXONS OF THE PERIPHERIN RDS GENE INSWEDISH PATIENTS WITH RETINITIS-PIGMENTOSA USING AN EFFICIENT DGGE SYSTEM/, Journal of clinical pathology-Molecular pathology, 51(5), 1998, pp. 287-291
A SWEDISH FAMILY WITH A MUTATION IN THE PERIPHERIN RDS GENE (ARG-172-TRP) ASSOCIATED WITH A PROGRESSIVE RETINAL DEGENERATION/
Authors: EKSTROM U ANDREASSON S PONJAVIC V ABRAHAMSON M SANDGREN O NILSSONEHLE P EHINGER B
Citation: U. Ekstrom et al., A SWEDISH FAMILY WITH A MUTATION IN THE PERIPHERIN RDS GENE (ARG-172-TRP) ASSOCIATED WITH A PROGRESSIVE RETINAL DEGENERATION/, Ophthalmic genetics, 19(3), 1998, pp. 149-156
PHENOTYPIC-EXPRESSION OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IN ASWEDISH FAMILY EXPRESSING A PHE-211-LEU VARIANT OF PERIPHERIN RDS/
Authors: EKSTROM U PONJAVIC V ABRAHAMSON M NILSSONEHLE P ANDREASSON S STENSTROM I EHINGER B
Citation: U. Ekstrom et al., PHENOTYPIC-EXPRESSION OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IN ASWEDISH FAMILY EXPRESSING A PHE-211-LEU VARIANT OF PERIPHERIN RDS/, Ophthalmic genetics, 19(1), 1998, pp. 27-37
AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITH A RHODOPSIN MUTATION (ARG-135-TRP) - DISEASE PHENOTYPE IN A SWEDISH FAMILY
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S EHINGER B FEX G
Citation: V. Ponjavic et al., AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITH A RHODOPSIN MUTATION (ARG-135-TRP) - DISEASE PHENOTYPE IN A SWEDISH FAMILY, Acta ophthalmologica Scandinavica, 75(2), 1997, pp. 218-223
A MILD PHENOTYPE OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS ASSOCIATED WITH THE RHODOPSIN MUTATION PRO-267-LEU
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S EHINGER B FEX G POLLAND W
Citation: V. Ponjavic et al., A MILD PHENOTYPE OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS ASSOCIATED WITH THE RHODOPSIN MUTATION PRO-267-LEU, Ophthalmic genetics, 18(2), 1997, pp. 63-70
PHENOTYPE IN A SWEDISH FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND A POINT MUTATION (PHE-211-LEU) IN THE PERIPHERIN RDS GENE/
Authors: PONJAVIC V EKSTROM U ANDREASSON S ABRAHAMSON M NILSSONEHLE P STENSTROM I EHINGER B
Citation: V. Ponjavic et al., PHENOTYPE IN A SWEDISH FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND A POINT MUTATION (PHE-211-LEU) IN THE PERIPHERIN RDS GENE/, Investigative ophthalmology & visual science, 38(4), 1997, pp. 4101-4101
PHENOTYPES IN 3 SWEDISH FAMILIES WITH X-LINKED RETINITIS-PIGMENTOSA CAUSED BY DIFFERENT MUTATIONS IN THE RPGR GENE
Authors: ANDREASSON S PONJAVIC V ABRAHAMSON M EHINGER B WU W FUJITA R BURACZYNSKA M SWAROOP A
Citation: S. Andreasson et al., PHENOTYPES IN 3 SWEDISH FAMILIES WITH X-LINKED RETINITIS-PIGMENTOSA CAUSED BY DIFFERENT MUTATIONS IN THE RPGR GENE, American journal of ophthalmology, 124(1), 1997, pp. 95-102
FULL-FIELD ELECTRORETINOGRAMS IN A FAMILY WITH MOHR-TRANEBJAERG SYNDROME
Authors: PONJAVIC V ANDREASSON S TRANEBJAERG L LUBS HA
Citation: V. Ponjavic et al., FULL-FIELD ELECTRORETINOGRAMS IN A FAMILY WITH MOHR-TRANEBJAERG SYNDROME, Acta ophthalmologica Scandinavica, 74(6), 1996, pp. 632-635
FULL-FIELD ELECTRORETINOGRAMS IN INFANTS WITH HEREDITARY TAPETORETINAL DEGENERATION
Authors: ANDREASSON S PONJAVIC V
Citation: S. Andreasson et V. Ponjavic, FULL-FIELD ELECTRORETINOGRAMS IN INFANTS WITH HEREDITARY TAPETORETINAL DEGENERATION, Acta ophthalmologica Scandinavica, 74, 1996, pp. 19-21
FULL-FIELD ELECTRORETINOGRAMS IN A 3 GENERATION FAMILY WITH DOMINANT CONE-ROD DYSTROPHY
Authors: PONJAVIC V ANDREASSON SO ERIKSEN H TRANEBJAERG L EHINGER B
Citation: V. Ponjavic et al., FULL-FIELD ELECTRORETINOGRAMS IN A 3 GENERATION FAMILY WITH DOMINANT CONE-ROD DYSTROPHY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 1557-1557
PHENOTYPE VARIATIONS WITHIN A CHOROIDEREMIA FAMILY LACKING THE ENTIRECHM GENE
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S VANBOKHOVEN H CREMERS FPM EHINGER B FEX G
Citation: V. Ponjavic et al., PHENOTYPE VARIATIONS WITHIN A CHOROIDEREMIA FAMILY LACKING THE ENTIRECHM GENE, Ophthalmic genetics, 16(4), 1995, pp. 143-150
VARIATIONS IN FULL FIELD ELECTRORETINOGRAMS AND PHENOTYPES WITHIN A FAMILY WITH CHOROIDEREMIA AND A COMPLETE DELETION OF THE CHM GENE/
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S VANBOKHOVEN H CREMERS FPM EHINGER B FEX G
Citation: V. Ponjavic et al., VARIATIONS IN FULL FIELD ELECTRORETINOGRAMS AND PHENOTYPES WITHIN A FAMILY WITH CHOROIDEREMIA AND A COMPLETE DELETION OF THE CHM GENE/, Investigative ophthalmology & visual science, 36(4), 1995, pp. 449-449
A NEW X-LINKED RECESSIVE DEAFNESS SYNDROME WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY IS LINKED TO XQ22
Authors: TRANEBJAERG L SCHWARTZ C ERIKSEN H ANDREASSON S PONJAVIC V DAHL A STEVENSON RE MAY M ARENA F BARKER D ELVERLAND HH LUBS H
Citation: L. Tranebjaerg et al., A NEW X-LINKED RECESSIVE DEAFNESS SYNDROME WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY IS LINKED TO XQ22, Journal of Medical Genetics, 32(4), 1995, pp. 257-263
FULL-FIELD ELECTRORETINOGRAMS IN PATIENTS WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY
Authors: PONJAVIC V ANDREASSON S EHINGER B
Citation: V. Ponjavic et al., FULL-FIELD ELECTRORETINOGRAMS IN PATIENTS WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY, Acta ophthalmologica, 72(5), 1994, pp. 537-544
FULL-FIELD ELECTRORETINOGRAM IN A PATIENT WITH CUTANEOUS MELANOMA-ASSOCIATED RETINOPATHY
Authors: ANDREASSON S PONJAVIC V EHINGER B
Citation: S. Andreasson et al., FULL-FIELD ELECTRORETINOGRAM IN A PATIENT WITH CUTANEOUS MELANOMA-ASSOCIATED RETINOPATHY, Acta ophthalmologica, 71(4), 1993, pp. 487-490
Risultati: 1-15 |