ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 | 51-75 | 76-77

Results: 26-50/77

MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD TRANSDUCIN IN THE NOUGARET FORM OF CONGENITAL STATIONARY NIGHT BLINDNESS

Authors: DRYJA TP HAHN LB REBOUL T ARNAUD B

Citation: Tp. Dryja et al., MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD TRANSDUCIN IN THE NOUGARET FORM OF CONGENITAL STATIONARY NIGHT BLINDNESS, Nature genetics, 13(3), 1996, pp. 358-360

CHARACTERIZATION AND CHROMOSOMAL LOCALIZATION OF THE GENE FOR HUMAN RHODOPSIN KINASE

Authors: KHANI SC ABITBOL M YAMAMOTO S MARAVICMAGOVCEVIC I DRYJA TP

Citation: Sc. Khani et al., CHARACTERIZATION AND CHROMOSOMAL LOCALIZATION OF THE GENE FOR HUMAN RHODOPSIN KINASE, Genomics, 35(3), 1996, pp. 571-576

SCREEN FOR MUTATIONS IN THE GENE ENCODING 11-CIS RETINOL DEHYDROGENASE IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE

Authors: HARRIS EW SIMON A ERIKSSON U BERSON EL DRYJA TP

Citation: Ew. Harris et al., SCREEN FOR MUTATIONS IN THE GENE ENCODING 11-CIS RETINOL DEHYDROGENASE IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 1774-1774

TRANSGENIC MICE CARRYING DOMINANT RHODOPSIN MUTATIONS T17M OR P347S -EVIDENCE THAT MUTANT RHODOPSIN MAY INTERFERE WITH DISC ASSEMBLY

Authors: LI T SNYDER WK DRYJA TP

Citation: T. Li et al., TRANSGENIC MICE CARRYING DOMINANT RHODOPSIN MUTATIONS T17M OR P347S -EVIDENCE THAT MUTANT RHODOPSIN MAY INTERFERE WITH DISC ASSEMBLY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 3191-3191

SCREEN FOR MUTATIONS IN THE HUMAN RHODOPSIN KINASE GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA

Authors: YAMAMOTO S KHANI SC MCGEE T BERSON EL DRYJA TP

Citation: S. Yamamoto et al., SCREEN FOR MUTATIONS IN THE HUMAN RHODOPSIN KINASE GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4551-4551

SCREEN FOR MUTATIONS IN THE HUMAN RECOVERIN GENE 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., SCREEN FOR MUTATIONS IN THE HUMAN RECOVERIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA OR AN ALLIED DISEASE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4552-4552

SCREEN OF THE HUMAN ARRESTIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND OGUCHI DISEASE

Authors: SIPPEL KC DESTEFANO JD BERSON EL DRYJA TP

Citation: Kc. Sippel et al., SCREEN OF THE HUMAN ARRESTIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND OGUCHI DISEASE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4553-4553

MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD TRANSDUCIN COSEGREGATES WITH NOUGARETS CONGENITAL NIGHT BLINDNESS

Authors: HUSSELS IEM HAHN LB REBOUL T ARNAUD B DRYJA TP

Citation: Iem. Hussels et al., MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD TRANSDUCIN COSEGREGATES WITH NOUGARETS CONGENITAL NIGHT BLINDNESS, Investigative ophthalmology & visual science, 37(3), 1996, pp. 5240-5240

TRANSGENIC MICE CARRYING THE DOMINANT RHODOPSIN MUTATION P347S - EVIDENCE FOR DEFECTIVE VECTORIAL TRANSPORT OF RHODOPSIN TO THE OUTER SEGMENTS

Authors: LI TS SNYDER WK OLSSON JE DRYJA TP

Citation: Ts. Li et al., TRANSGENIC MICE CARRYING THE DOMINANT RHODOPSIN MUTATION P347S - EVIDENCE FOR DEFECTIVE VECTORIAL TRANSPORT OF RHODOPSIN TO THE OUTER SEGMENTS, Proceedings of the National Academy of Sciences of the United Statesof America, 93(24), 1996, pp. 14176-14181

NORRIE DISEASE - DIAGNOSIS OF A SIMPLEX CASE BY DNA ANALYSIS

Authors: CHYNN EW WALTON DS HAHN LB DRYJA TP

Citation: Ew. Chynn et al., NORRIE DISEASE - DIAGNOSIS OF A SIMPLEX CASE BY DNA ANALYSIS, Archives of ophthalmology, 114(9), 1996, pp. 1136-1138

AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA CAUSED BY MUTATIONS IN THE ALPHA-SUBUNIT OF ROD CGMP PHOSPHODIESTERASE

Authors: HUANG SH PITTLER SJ HUANG XH OLIVEIRA L BERSON EL DRYJA TP

Citation: Sh. Huang et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA CAUSED BY MUTATIONS IN THE ALPHA-SUBUNIT OF ROD CGMP PHOSPHODIESTERASE, Nature genetics, 11(4), 1995, pp. 468-471

MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA

Authors: DRYJA TP LI T

Citation: Tp. Dryja et T. Li, MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA, Human molecular genetics, 4, 1995, pp. 1739-1743

MAPPING OF THE HUMAN CONE TRANSDUCIN ALPHA-SUBUNIT (GNAT2) GENE TO 1P13 AND NEGATIVE MUTATION ANALYSIS IN PATIENTS WITH STARGARDT DISEASE

Authors: MAGOVCEVIC I WEREMOWICZ S MORTON CC FONG SL BERSON EL DRYJA TP

Citation: I. Magovcevic et al., MAPPING OF THE HUMAN CONE TRANSDUCIN ALPHA-SUBUNIT (GNAT2) GENE TO 1P13 AND NEGATIVE MUTATION ANALYSIS IN PATIENTS WITH STARGARDT DISEASE, Genomics, 25(1), 1995, pp. 288-290

CLINICAL EXPRESSION CORRELATES WITH LOCATION OF RHODOPSIN MUTATION INDOMINANT RETINITIS-PIGMENTOSA

Authors: SANDBERG MA WEIGELDIFRANCO C DRYJA TP BERSON EL

Citation: Ma. Sandberg et al., CLINICAL EXPRESSION CORRELATES WITH LOCATION OF RHODOPSIN MUTATION INDOMINANT RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 36(9), 1995, pp. 1934-1942

RETINITIS-PIGMENTOSA AND ALLIED DISEASES - IMPLICATIONS OF GENETIC-HETEROGENEITY

Authors: DRYJA TP BERSON EL

Citation: Tp. Dryja et El. Berson, RETINITIS-PIGMENTOSA AND ALLIED DISEASES - IMPLICATIONS OF GENETIC-HETEROGENEITY, Investigative ophthalmology & visual science, 36(7), 1995, pp. 1197-1200

MOLECULAR-GENETICS OF RETINOBLASTOMA

Authors: DRYJA TP

Citation: Tp. Dryja, MOLECULAR-GENETICS OF RETINOBLASTOMA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 220-220

A MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD CGMP-PHOSPHODIESTERASE (PDEA) IN RETINITIS-PIGMENTOSA

Authors: HUANG SH HUANG X PITTLER SJ OLIVEIRA L BERSON EL DRYJA TP

Citation: Sh. Huang et al., A MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD CGMP-PHOSPHODIESTERASE (PDEA) IN RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 825-825

SCREEN FOR MUTATIONS IN THE GENE ENCODING GUANYLATE-CYCLASE ACTIVATING PROTEIN IN PATIENTS WITH RETINITIS-PIGMENTOSA

Authors: AMBERSON DA BAEHR W SUBBARAYA I BERSON EL DRYJA TP

Citation: Da. Amberson et al., SCREEN FOR MUTATIONS IN THE GENE ENCODING GUANYLATE-CYCLASE ACTIVATING PROTEIN IN PATIENTS WITH RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 826-826

SCREEN FOR MUTATIONS IN THE HUMAN RECOVERIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND ALLIED DISEASES

Authors: PARMINDER AH MURAKAMI A INANA G BERSON EL DRYJA TP

Citation: Ah. Parminder et al., SCREEN FOR MUTATIONS IN THE HUMAN RECOVERIN GENE IN PATIENTS WITH RETINITIS-PIGMENTOSA AND ALLIED DISEASES, Investigative ophthalmology & visual science, 36(4), 1995, pp. 893-893

PUTATIVE FUNCTIONAL DEFECTS IN ROD CGMP-GATED CHANNEL MUTANTS IMPLICATED IN RETINITIS-PIGMENTOSA

Authors: PENG YW FINN JT LI J DRYJA TP MCGEE TL HAHN LB BERSON EL YAU KW

Citation: Yw. Peng et al., PUTATIVE FUNCTIONAL DEFECTS IN ROD CGMP-GATED CHANNEL MUTANTS IMPLICATED IN RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 919-919

LOW INCIDENCE OF RETINITIS-PIGMENTOSA AMONG HETEROZYGOUS CARRIERS OF A SPECIFIC RHODOPSIN SPLICE-SITE MUTATION

Authors: ROSENFELD PJ HAHN LB SANDBERG MA DRYJA TP BERSON EL

Citation: Pj. Rosenfeld et al., LOW INCIDENCE OF RETINITIS-PIGMENTOSA AMONG HETEROZYGOUS CARRIERS OF A SPECIFIC RHODOPSIN SPLICE-SITE MUTATION, Investigative ophthalmology & visual science, 36(11), 1995, pp. 2186-2192

VITREOUS AMYLOIDOSIS IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - REPORT OF A CASE WITH THE VAL30MET TRANSTHYRETIN MUTATION

Authors: CIULLA TA TOLENTINO F MORROW JF DRYJA TP

Citation: Ta. Ciulla et al., VITREOUS AMYLOIDOSIS IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - REPORT OF A CASE WITH THE VAL30MET TRANSTHYRETIN MUTATION, Survey of ophthalmology, 40(3), 1995, pp. 197-206

MUTATION SPECTRUM OF THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AMONG PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA

Authors: MCLAUGHLIN ME EHRHART TL BERSON EL DRYJA TP

Citation: Me. Mclaughlin et al., MUTATION SPECTRUM OF THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AMONG PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, Proceedings of the National Academy of Sciences of the United Statesof America, 92(8), 1995, pp. 3249-3253

CONSTITUTIVE ACTIVATION OF PHOTOTRANSDUCTION BY K296E OPSIN IS NOT A CAUSE OF PHOTORECEPTOR DEGENERATION

Authors: LI TS FRANSON WK GORDON JW BERSON EL DRYJA TP

Citation: Ts. Li et al., CONSTITUTIVE ACTIVATION OF PHOTOTRANSDUCTION BY K296E OPSIN IS NOT A CAUSE OF PHOTORECEPTOR DEGENERATION, Proceedings of the National Academy of Sciences of the United Statesof America, 92(8), 1995, pp. 3551-3555

MUTATIONS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF THE ROD CGMP-GATED CHANNEL IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA

Authors: DRYJA TP FINN JT PENG YW MCGEE TL BERSON EL YAU KW

Citation: Tp. Dryja et al., MUTATIONS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF THE ROD CGMP-GATED CHANNEL IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, Proceedings of the National Academy of Sciences of the United Statesof America, 92(22), 1995, pp. 10177-10181

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