AAAAAA

   
Results: 1-25 | 26-50 | 51-75 | 76-77
Results: 1-25/77
RECESSIVE MUTATIONS IN THE GENE ENCODING THE TUBBY-LIKE PROTEIN TULP1IN PATIENTS WITH RETINITIS-PIGMENTOSA
Authors: HAGSTROM SA NORTH MA NISHINA PM BERSON EL DRYJA TP
Citation: Sa. Hagstrom et al., RECESSIVE MUTATIONS IN THE GENE ENCODING THE TUBBY-LIKE PROTEIN TULP1IN PATIENTS WITH RETINITIS-PIGMENTOSA, Nature genetics, 18(2), 1998, pp. 174-176
EVALUATION OF THE HUMAN ARRESTIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND STATIONARY NIGHT BLINDNESS
Authors: SIPPEL KC DESTEFANO JD BERSON EL DRYJA TP
Citation: Kc. Sippel et al., EVALUATION OF THE HUMAN ARRESTIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND STATIONARY NIGHT BLINDNESS, Investigative ophthalmology & visual science, 39(3), 1998, pp. 665-670
MUTATIONS IN THE RPE65 GENE IN PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA OR LEBER CONGENITAL AMAUROSIS
Authors: MORIMURA H FISHMAN GA GROVER SA FULTON AB BERSON EL DRYJA TP
Citation: H. Morimura et al., MUTATIONS IN THE RPE65 GENE IN PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA OR LEBER CONGENITAL AMAUROSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(6), 1998, pp. 3088-3093
EFFECT OF VITAMIN-A SUPPLEMENTATION ON RHODOPSIN MUTANTS THREONINE-17-]METHIONINE AND PROLINE-347-]SERINE IN TRANSGENIC MICE AND IN CELL-CULTURES
Authors: LI TS SANDBERG MA PAWLYK BS ROSNER B HAYES KC DRYJA TP BERSON EL
Citation: Ts. Li et al., EFFECT OF VITAMIN-A SUPPLEMENTATION ON RHODOPSIN MUTANTS THREONINE-17-]METHIONINE AND PROLINE-347-]SERINE IN TRANSGENIC MICE AND IN CELL-CULTURES, Proceedings of the National Academy of Sciences of the United Statesof America, 95(20), 1998, pp. 11933-11938
ROD AND CONE FUNCTION IN THE NOUGARET FORM OF STATIONARY NIGHT BLINDNESS
Authors: SANDBERG MA PAWLYK BS DAN J ARNAUD B DRYJA TP BERSON EL
Citation: Ma. Sandberg et al., ROD AND CONE FUNCTION IN THE NOUGARET FORM OF STATIONARY NIGHT BLINDNESS, Archives of ophthalmology, 116(7), 1998, pp. 867-872
FREQUENCY OF SOMATIC AND GERM-LINE MOSAICISM IN RETINOBLASTOMA - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: SIPPEL KC FRAIOLI RE SMITH GD SCHALKOFF ME SUTHERLAND J GALLIE BL DRYJA TP
Citation: Kc. Sippel et al., FREQUENCY OF SOMATIC AND GERM-LINE MOSAICISM IN RETINOBLASTOMA - IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 62(3), 1998, pp. 610-619
DEFECTS IN THE RHODOPSIN KINASE GENE IN THE OGUCHI FORM OF STATIONARYNIGHT BLINDNESS
Authors: YAMAMOTO S SIPPEL KC BERSON EL DRYJA TP
Citation: S. Yamamoto et al., DEFECTS IN THE RHODOPSIN KINASE GENE IN THE OGUCHI FORM OF STATIONARYNIGHT BLINDNESS, Nature genetics, 15(2), 1997, pp. 175-178
QUANTIFICATION OF THE PATERNAL ALLELE BIAS FOR NEW GERMLINE MUTATIONSIN THE RETINOBLASTOMA GENE
Authors: DRYJA TP MORROW JF RAPAPORT JM
Citation: Tp. Dryja et al., QUANTIFICATION OF THE PATERNAL ALLELE BIAS FOR NEW GERMLINE MUTATIONSIN THE RETINOBLASTOMA GENE, Human genetics, 100(3-4), 1997, pp. 446-449
HYPERMETHYLATION IN THE RETINOBLASTOMA GENE IS ASSOCIATED WITH UNILATERAL, SPORADIC RETINOBLASTOMA
Authors: OHTANIFUJITA N DRYJA TP RAPAPORT JM FUJITA T MATSUMURA S OZASA K WATANABE Y HAYASHI K MAEDA K KINOSHITA S MATSUMURA T OHNISHI Y HOTTA Y TAKAHASHI R KATO MV ISHIZAKI K SASAKI MS HORSTHEMKE B MINODA K SAKAI T
Citation: N. Ohtanifujita et al., HYPERMETHYLATION IN THE RETINOBLASTOMA GENE IS ASSOCIATED WITH UNILATERAL, SPORADIC RETINOBLASTOMA, Cancer genetics and cytogenetics, 98(1), 1997, pp. 43-49
MUTATION SPECTRUM OF THE RPGR GENE IN X-LINKED RETINITIS-PIGMENTOSA
Authors: BRUNS G EISENMAN R DRYJA TP BERSON EL
Citation: G. Bruns et al., MUTATION SPECTRUM OF THE RPGR GENE IN X-LINKED RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3178-3178
ROD FUNCTION IN THE NOUGARET FORM OF STATIONARY NIGHT BLINDNESS (SNB)
Authors: SANBERG MA PAWLYK BS ARNAUD B DRYJA TP BERSON EL
Citation: Ma. Sanberg et al., ROD FUNCTION IN THE NOUGARET FORM OF STATIONARY NIGHT BLINDNESS (SNB), Investigative ophthalmology & visual science, 38(4), 1997, pp. 3294-3294
EVIDENCE FOR A GENETIC-LOCUS MODULATING THE SEVERITY OF RETINITIS-PIGMENTOSA CAUSED BY THE RHODOPSIN MUTATION P23H
Authors: DRYJA TP SANDBERG MA OTT J BERSON EL
Citation: Tp. Dryja et al., EVIDENCE FOR A GENETIC-LOCUS MODULATING THE SEVERITY OF RETINITIS-PIGMENTOSA CAUSED BY THE RHODOPSIN MUTATION P23H, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3701-3701
DEFECTS IN THE RHODOPSIN KINASE GENE IN PATIENTS WITH THE OGUCHI FORMOF STATIONARY NIGHT BLINDNESS
Authors: YAMAMOTO S SIPPEL KC BERSON EL DRYJA TP
Citation: S. Yamamoto et al., DEFECTS IN THE RHODOPSIN KINASE GENE IN PATIENTS WITH THE OGUCHI FORMOF STATIONARY NIGHT BLINDNESS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3703-3703
ANALYSIS OF THE GENE ENCODING 11-CIS RETINOL DEHYDROGENASE IN PATIENTS WITH AGE-RELATED MACULAR DEGENERATION
Authors: HARRIS EW SEDDON JM DRYJA TP
Citation: Ew. Harris et al., ANALYSIS OF THE GENE ENCODING 11-CIS RETINOL DEHYDROGENASE IN PATIENTS WITH AGE-RELATED MACULAR DEGENERATION, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3718-3718
DOMINANT RETINITIS-PIGMENTOSA WITH REDUCED PENETRANCE - REFINEMENT OFTHE RP11 LOCUS TO A 4.9-CM INTERVAL ON CHROMOSOME 19Q
Authors: MCGEE TL DEVOTO M OTT J BERSON EL DRYJA TP
Citation: Tl. Mcgee et al., DOMINANT RETINITIS-PIGMENTOSA WITH REDUCED PENETRANCE - REFINEMENT OFTHE RP11 LOCUS TO A 4.9-CM INTERVAL ON CHROMOSOME 19Q, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5340-5340
DETECTION OF MOSAICISM IN 3 FAMILIES WITH RETINOBLASTOMA - RELEVANCE TO GENETIC-COUNSELING
Authors: SIPPEL KC DRYJA TP
Citation: Kc. Sippel et Tp. Dryja, DETECTION OF MOSAICISM IN 3 FAMILIES WITH RETINOBLASTOMA - RELEVANCE TO GENETIC-COUNSELING, Investigative ophthalmology & visual science, 38(4), 1997, pp. 2105-2105
CLINICAL-VALUE OF ANALYSIS OF THE RETINOBLASTOMA GENE IN PATIENTS WITH RETINOBLASTOMA AND THEIR RELATIVES
Authors: DRYJA TP
Citation: Tp. Dryja, CLINICAL-VALUE OF ANALYSIS OF THE RETINOBLASTOMA GENE IN PATIENTS WITH RETINOBLASTOMA AND THEIR RELATIVES, Investigative ophthalmology & visual science, 38(4), 1997, pp. 2241-2241
EVALUATION OF THE HUMAN GENE ENCODING RECOVERIN IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE
Authors: PARMINDER AH MURAKAMI A INANA G BERSON EL DRYJA TP
Citation: Ah. Parminder et al., EVALUATION OF THE HUMAN GENE ENCODING RECOVERIN IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE, Investigative ophthalmology & visual science, 38(3), 1997, pp. 704-709
DOMINANT AND DIGENIC MUTATIONS IN THE PERIPHERIN RDS AND ROM1 GENES IN RETINITIS-PIGMENTOSA/
Authors: DRYJA TP HAHN LB KAJIWARA K BERSON EL
Citation: Tp. Dryja et al., DOMINANT AND DIGENIC MUTATIONS IN THE PERIPHERIN RDS AND ROM1 GENES IN RETINITIS-PIGMENTOSA/, Investigative ophthalmology & visual science, 38(10), 1997, pp. 1972-1982
GENE-BASED APPROACH TO HUMAN GENE-PHENOTYPE CORRELATIONS
Authors: DRYJA TP
Citation: Tp. Dryja, GENE-BASED APPROACH TO HUMAN GENE-PHENOTYPE CORRELATIONS, Proceedings of the National Academy of Sciences of the United Statesof America, 94(22), 1997, pp. 12117-12121
EVALUATION OF THE RHODOPSIN KINASE GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA
Authors: YAMAMOTO S KHANI SC BERSON EL DRYJA TP
Citation: S. Yamamoto et al., EVALUATION OF THE RHODOPSIN KINASE GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA, Experimental Eye Research, 65(2), 1997, pp. 249-253
EVIDENCE THAT THE PENETRANCE OF MUTATIONS AT THE RP11 LOCUS CAUSING DOMINANT RETINITIS-PIGMENTOSA IS INFLUENCED BY A GENE LINKED TO THE HOMOLOGOUS RP11 ALLELE
Authors: MCGEE TL DEVOTO M OTT J BERSON EL DRYJA TP
Citation: Tl. Mcgee et al., EVIDENCE THAT THE PENETRANCE OF MUTATIONS AT THE RP11 LOCUS CAUSING DOMINANT RETINITIS-PIGMENTOSA IS INFLUENCED BY A GENE LINKED TO THE HOMOLOGOUS RP11 ALLELE, American journal of human genetics, 61(5), 1997, pp. 1059-1066
FREQUENT SOMATIC AND GERM-LINE MOSAICISM IN RETINOBLASTOMA - RELEVANCE TO GENETIC-COUNSELING
Authors: SIPPEL KC FRAIOLI RE SMITH GD SCHALKOFF ME DRYJA TP
Citation: Kc. Sippel et al., FREQUENT SOMATIC AND GERM-LINE MOSAICISM IN RETINOBLASTOMA - RELEVANCE TO GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 75-75
RETINOBLASTOMA TUMORS LACKING IDENTIFIED RB1 ALTERATIONS DO NOT CARRYMUTATIONS IN P16 CDKN2A OR CDK4, OTHER ELEMENTS OF THE PRB PATHWAY/
Authors: BENOIT E TSAO H DRYJA TP HALUSKA FG
Citation: E. Benoit et al., RETINOBLASTOMA TUMORS LACKING IDENTIFIED RB1 ALTERATIONS DO NOT CARRYMUTATIONS IN P16 CDKN2A OR CDK4, OTHER ELEMENTS OF THE PRB PATHWAY/, American journal of human genetics, 61(4), 1997, pp. 324-324
SOMATIC RECOMBINATION MAP OF 13CEN-Q14
Authors: HAGSTROM SA DRYJA TP
Citation: Sa. Hagstrom et Tp. Dryja, SOMATIC RECOMBINATION MAP OF 13CEN-Q14, American journal of human genetics, 61(4), 1997, pp. 1619-1619
Risultati: 1-25 | 26-50 | 51-75 | 76-77