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Results: 1-25 | 26-29
Results: 1-25/29
CLONING AND GENE STRUCTURE OF THE ROD CGMP PHOSPHODIESTERASE DELTA-SUBUNIT GENE (PDED) IN MAN AND MOUSE
Authors: LORENZ B MIGLIACCIO C LICHTNER P MEYER C STROM TM DURSO M BECKER J CICCODICOLA A MEITINGER T
Citation: B. Lorenz et al., CLONING AND GENE STRUCTURE OF THE ROD CGMP PHOSPHODIESTERASE DELTA-SUBUNIT GENE (PDED) IN MAN AND MOUSE, European journal of human genetics, 6(3), 1998, pp. 283-290
A NOVEL PSEUDOAUTOSOMAL GENE ENCODING A PUTATIVE GTP-BINDING PROTEIN RESIDES IN THE VICINITY OF THE XP YP TELOMERE/
Authors: GIANFRANCESCO F ESPOSITO T MONTANINI L CICCODICOLA A MUMM S MAZZARELLA R RAO E GIGLIO S RAPPOLD G FORABOSCO A
Citation: F. Gianfrancesco et al., A NOVEL PSEUDOAUTOSOMAL GENE ENCODING A PUTATIVE GTP-BINDING PROTEIN RESIDES IN THE VICINITY OF THE XP YP TELOMERE/, Human molecular genetics, 7(3), 1998, pp. 407-414
KLINEFELTERS-SYNDROME AS A MODEL OF ANOMALOUS CEREBRAL LATERALITY - TESTING GENE DOSAGE IN THE X-CHROMOSOME PSEUDOAUTOSOMAL REGION USING A DNA MICROARRAY
Authors: GESCHWIND DH GREGG J BOONE K KARRIM J PAWLIKOWSKAHADDAL A RAO E ELLISON J CICCODICOLA A DURSO M WOODS R RAPPOLD GA SWERDLOFF R NELSON SF
Citation: Dh. Geschwind et al., KLINEFELTERS-SYNDROME AS A MODEL OF ANOMALOUS CEREBRAL LATERALITY - TESTING GENE DOSAGE IN THE X-CHROMOSOME PSEUDOAUTOSOMAL REGION USING A DNA MICROARRAY, Developmental genetics, 23(3), 1998, pp. 215-229
AUTOSOMAL RECESSIVE FAMILIAL EXUDATIVE VITREORETINOPATHY - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: DECRECCHIO G SIMONELLI F NUNZIATA G MAZZEO S GRECO GM RINALDI E VENTRUTO V CICCODICOLA A MIANO MG TESTA F CURCI A DURSO M RINALDI MM CAVALIERE ML CASTELLUCCIO P
Citation: G. Decrecchio et al., AUTOSOMAL RECESSIVE FAMILIAL EXUDATIVE VITREORETINOPATHY - EVIDENCE FOR GENETIC-HETEROGENEITY, Clinical genetics, 54(4), 1998, pp. 315-320
OCULAR SIGNS ASSOCIATED WITH A RHODOPSIN MUTATION (CYS-167-]ARG) IN AFAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: SIMONELLI F RINALDI M NESTI A TESTA F RINALDI E CICCODICOLA A FLAGIELLO L MIANO MG VENTRUTO V DURSO M
Citation: F. Simonelli et al., OCULAR SIGNS ASSOCIATED WITH A RHODOPSIN MUTATION (CYS-167-]ARG) IN AFAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, British journal of ophthalmology, 82(6), 1998, pp. 709-709
DIFFERENTIAL EXPRESSION PATTERN OF XQPAR-LINKED GENES SYBL1 AND IL9R CORRELATES WITH THE STRUCTURE AND EVOLUTION OF THE REGION
Authors: DESPOSITO M MATARAZZO MR CICCODICOLA A STRAZZULLO M MATZARELLA R QUADERI NA FUJIWARA H KO MSH ROWE LB RICCO A ARCHIDIACONO N ROCCHI M SCHLESSINGER D DURSO M
Citation: M. Desposito et al., DIFFERENTIAL EXPRESSION PATTERN OF XQPAR-LINKED GENES SYBL1 AND IL9R CORRELATES WITH THE STRUCTURE AND EVOLUTION OF THE REGION, Human molecular genetics, 6(11), 1997, pp. 1917-1923
SEQUENCE-BASED EXON PREDICTION AROUND THE SYNAPTOPHYSIN LOCUS REVEALSA GENE-RICH AREA CONTAINING NOVEL GENES IN HUMAN PROXIMAL XP
Authors: FISHER SE CICCODICOLA A TANAKA K CURCI A DESICATO S DURSO M CRAIG IW
Citation: Se. Fisher et al., SEQUENCE-BASED EXON PREDICTION AROUND THE SYNAPTOPHYSIN LOCUS REVEALSA GENE-RICH AREA CONTAINING NOVEL GENES IN HUMAN PROXIMAL XP, Genomics, 45(2), 1997, pp. 340-347
ESCAPE FROM X-INACTIVATION OF 2 NEW GENES ASSOCIATED WITH DXS6974E AND DXS7020E
Authors: ESPOSITO T GIANFRANCESCO F CICCODICOLA A DESPOSITO M NAGARAJA R MAZZARELLA R DURSO M FORABOSCO A
Citation: T. Esposito et al., ESCAPE FROM X-INACTIVATION OF 2 NEW GENES ASSOCIATED WITH DXS6974E AND DXS7020E, Genomics, 43(2), 1997, pp. 183-190
EXPRESSED STSS AND TRANSCRIPTION OF HUMAN XQ28
Authors: ESPOSITO T CICCODICOLA A FLAGIELLO L MATARAZZO MR MIGLIACCIO C CIFARELLI RA VISONE R CAMPANILE C MAZZARELLA R SCHLESSINGER D DURSO M DESPOSITO M
Citation: T. Esposito et al., EXPRESSED STSS AND TRANSCRIPTION OF HUMAN XQ28, Gene, 187(2), 1997, pp. 185-191
AN APPROACH FOR TESTING GENE DOSAGE AS A MECHANISM FOR COGNITIVE DYSFUNCTION IN KLINEFELTERS-SYNDROME
Authors: GESCHWIND DH GREGG J KARRIM J BOONE K SWERDLOFF R RAPPOLD G RAO E DURSO M CICCODICOLA A NELSON SF
Citation: Dh. Geschwind et al., AN APPROACH FOR TESTING GENE DOSAGE AS A MECHANISM FOR COGNITIVE DYSFUNCTION IN KLINEFELTERS-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 714-714
DIFFERENTIAL EXPRESSION PATTERN OF XQPAR-LINKED GENES SYBL1 AND IL9R CORRELATES WITH THE STRUCTURE AND EVOLUTION OF THE REGION
Authors: DESPOSITO M MATARAZZO MR STRAZZULLO M CURCI A CUCCURESE M TERRACCIANO A DURSO M CICCODICOLA A
Citation: M. Desposito et al., DIFFERENTIAL EXPRESSION PATTERN OF XQPAR-LINKED GENES SYBL1 AND IL9R CORRELATES WITH THE STRUCTURE AND EVOLUTION OF THE REGION, American journal of human genetics, 61(4), 1997, pp. 972-972
A NEW GENE ENCODES A PUTATIVE GTP-BINDING PROTEIN, ESCAPES X-INACTIVATION AND HAS RELATED SEQUENCES ON Y-CHROMOSOME
Authors: GIANFRANCESCO F ESPOSITO T MONTANINI L CICCODICOLA A FORABOSCO A
Citation: F. Gianfrancesco et al., A NEW GENE ENCODES A PUTATIVE GTP-BINDING PROTEIN, ESCAPES X-INACTIVATION AND HAS RELATED SEQUENCES ON Y-CHROMOSOME, American journal of human genetics, 61(4), 1997, pp. 987-987
MUTATION ANALYSIS OF RPGR GENE IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA (RP3)
Authors: CICCODICOLA A MIANO MG TESTA F SIMONELLI F BAIGET M ANTINOLO G DELPORTO G DANESINO C RINALDI E VENTRUTO V DURSO M
Citation: A. Ciccodicola et al., MUTATION ANALYSIS OF RPGR GENE IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA (RP3), American journal of human genetics, 61(4), 1997, pp. 1922-1922
A SYNAPTOBREVIN-LIKE GENE IN THE XQ28 PSEUDOAUTOSOMAL REGION UNDERGOES X-INACTIVATION
Authors: DESPOSITO M CICCODICOLA A GIANFRANCESCO F ESPOSITO T FLAGIELLO L MAZZARELLA R SCHLESSINGER D DURSO M
Citation: M. Desposito et al., A SYNAPTOBREVIN-LIKE GENE IN THE XQ28 PSEUDOAUTOSOMAL REGION UNDERGOES X-INACTIVATION, Nature genetics, 13(2), 1996, pp. 227-229
A GENE (RPGR) WITH HOMOLOGY TO THE RCC1 GUANINE-NUCLEOTIDE EXCHANGE FACTOR IS MUTATED IN X-LINKED RETINITIS-PIGMENTOSA (RP3)
Authors: MEINDL A DRY K HERRMANN K MANSON F CICCODICOLA A EDGAR A CARVALHO MRS ACHATZ H HELLEBRAND H LENNON A MIGLIACCIO C PORTER K ZRENNER E BIRD A JAY M LORENZ B WITTWER B DURSO M MEITINGER T WRIGHT A
Citation: A. Meindl et al., A GENE (RPGR) WITH HOMOLOGY TO THE RCC1 GUANINE-NUCLEOTIDE EXCHANGE FACTOR IS MUTATED IN X-LINKED RETINITIS-PIGMENTOSA (RP3), Nature genetics, 13(1), 1996, pp. 35-42
LONG-RANGE SEQUENCE-ANALYSIS IN XQ28 - 13 KNOWN AND 6 CANDIDATE GENESIN 219.4 KB OF HIGH GC DNA BETWEEN THE RCP GCP AND GGPD LOCI/
Authors: CHEN EY ZOLLO M MAZZARELLA R CICCODICOLA A CHEN CN ZUO L HEINER C BUROUGH F REPETTO M SCHLESSINGER D DURSO M
Citation: Ey. Chen et al., LONG-RANGE SEQUENCE-ANALYSIS IN XQ28 - 13 KNOWN AND 6 CANDIDATE GENESIN 219.4 KB OF HIGH GC DNA BETWEEN THE RCP GCP AND GGPD LOCI/, Human molecular genetics, 5(5), 1996, pp. 659-668
ISOLATION, PHYSICAL MAPPING, AND NORTHERN ANALYSIS OF THE X-LINKED HUMAN GENE ENCODING METHYL CPG-BINDING PROTEIN, MECP2
Authors: DESPOSITO M QUADERI NA CICCODICOLA A BRUNI P ESPOSITO T DURSO M BROWN SDM
Citation: M. Desposito et al., ISOLATION, PHYSICAL MAPPING, AND NORTHERN ANALYSIS OF THE X-LINKED HUMAN GENE ENCODING METHYL CPG-BINDING PROTEIN, MECP2, Mammalian genome, 7(7), 1996, pp. 533-535
A MUSCLE-SPECIFIC DNASE I-LIKE GENE IN HUMAN XQ28
Authors: PARRISH JE CICCODICOLA A WEHNERT M COX GF CHEN E NELSON DL
Citation: Je. Parrish et al., A MUSCLE-SPECIFIC DNASE I-LIKE GENE IN HUMAN XQ28, Human molecular genetics, 4(9), 1995, pp. 1557-1564
IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE
Authors: BIONE S SMALL K AKSMANOVIC VMA DURSO M CICCODICOLA A MERLINI L MORANDI L KRESS W YATES JRW WARREN ST TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE, Human molecular genetics, 4(10), 1995, pp. 1859-1863
SSCP DETECTION OF NOVEL MUTATIONS IN PATIENTS WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY - DEFINITION OF A SMALL C-TERMINAL REGION REQUIRED FOREMERIN FUNCTION
Authors: NIGRO V BRUNI P CICCODICOLA A POLITANO L NIGRO G PILUSO G CAPPA V COVONE AE ROMEO G DURSO M
Citation: V. Nigro et al., SSCP DETECTION OF NOVEL MUTATIONS IN PATIENTS WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY - DEFINITION OF A SMALL C-TERMINAL REGION REQUIRED FOREMERIN FUNCTION, Human molecular genetics, 4(10), 1995, pp. 2003-2004
HUMAN PROTEIN-KINASE-C LOTA GENE (PRKCI) IS CLOSELY LINKED TO THE BTKGENE IN XQ21.3
Authors: MAZZARELLA R CICCODICOLA A ESPOSITO T ARCUCCI A MIGLIACCIO C JONES C SCHLESSINGER D DURSO M DESPOSITO M
Citation: R. Mazzarella et al., HUMAN PROTEIN-KINASE-C LOTA GENE (PRKCI) IS CLOSELY LINKED TO THE BTKGENE IN XQ21.3, Genomics, 26(3), 1995, pp. 629-631
SEQUENCE-TAGGED SITES (STSS) FROM YAC INSERT-ENDS AND X-SPECIFIC FLOW-SORTED CHROMOSOMES
Authors: CICCODICOLA A CINTI C ESPOSITO T CAMPANILE C CASAMASSIMI A MIANO MG MARALDI NM VITALE M JOHNSON D MOLINI B MASISI W KERE J SCHLESSINGER D DURSO M
Citation: A. Ciccodicola et al., SEQUENCE-TAGGED SITES (STSS) FROM YAC INSERT-ENDS AND X-SPECIFIC FLOW-SORTED CHROMOSOMES, Mammalian genome, 5(8), 1994, pp. 511-514
YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28
Authors: PALMIERI G ROMANO G CICCODICOLA A CASAMASSIMI A CAMPANILE C ESPOSITO T CAPPA V LANIA A JOHNSON S REINBOLD R POUSTKA A SCHLESSINGER D DURSO M
Citation: G. Palmieri et al., YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28, Genomics, 24(1), 1994, pp. 149-158
SEQUENCING AND PRELIMINARY-ANALYSIS OF 220-KB OF DNA IN THE HIGH-GC RCP GCP-G6PD INTERVAL OF XQ28/
Authors: ZOLLO M CICCODICOLA A ARCUCCI A REPETTO M ZUO L MAZZARELLA R SCHLESSINGER D DURSO M CHEN E
Citation: M. Zollo et al., SEQUENCING AND PRELIMINARY-ANALYSIS OF 220-KB OF DNA IN THE HIGH-GC RCP GCP-G6PD INTERVAL OF XQ28/, Cytogenetics and cell genetics, 67(4), 1994, pp. 333-333
PHYSICAL MAPPING BY YAC CONTIGS AND ANALYSIS FOR CPG ISLANDS IN XQ28
Authors: PALMIERI G ROMANO G CICCODICOLA A CASAMASSIMI A CAMPANILE C CAPPA V ESPOSITO T CIFARELLI R ARCHIDIACONO N ROCCHI M JOHNSON S REINBOLD R NAGARAJA R SCHLESSINGER D DURSO M
Citation: G. Palmieri et al., PHYSICAL MAPPING BY YAC CONTIGS AND ANALYSIS FOR CPG ISLANDS IN XQ28, Cytogenetics and cell genetics, 67(4), 1994, pp. 336-337
Risultati: 1-25 | 26-29