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Results: 1-25 | 26-36
Results: 1-25/36
RETINITIS-PIGMENTOSA CAUSED BY A HOMOZYGOUS MUTATION IN THE STARGARDT-DISEASE GENE ABCR
Authors: MARTINEZMIR A PALOMA E ALLIKMETS R AYUSO C DELRIO T DEAN M VILAGELIU L GONZALEZDUARTE R BALCELLS S
Citation: A. Martinezmir et al., RETINITIS-PIGMENTOSA CAUSED BY A HOMOZYGOUS MUTATION IN THE STARGARDT-DISEASE GENE ABCR, Nature genetics, 18(1), 1998, pp. 11-12
IDENTIFICATION OF A DROSOPHILA PRESENILIN HOMOLOG - EVIDENCE OF ALTERNATIVELY SPLICED FORMS
Authors: MARFANY G DELFAVERO J VALERO R DEJONGHE C WOODROW S HENDRIKS L VANBROECKHOVEN C GONZALEZDUARTE R
Citation: G. Marfany et al., IDENTIFICATION OF A DROSOPHILA PRESENILIN HOMOLOG - EVIDENCE OF ALTERNATIVELY SPLICED FORMS, Journal of neurogenetics, 12(1), 1998, pp. 41
IDENTIFICATION OF 2 ALLELIC MUTATIONS IN THE BETA-SUBUNIT OF PHOSPHODIESTERASE GENE IN A SPANISH FAMILY WITH RECESSIVE AUTOSOMIC RETINITIS-PIGMENTOSA
Authors: BAIGET M CALAF M VALVERDE D DELRIO E REIG C CARBALLO M CALVO MT GONZALEZDUARTE R
Citation: M. Baiget et al., IDENTIFICATION OF 2 ALLELIC MUTATIONS IN THE BETA-SUBUNIT OF PHOSPHODIESTERASE GENE IN A SPANISH FAMILY WITH RECESSIVE AUTOSOMIC RETINITIS-PIGMENTOSA, Medicina Clinica, 111(11), 1998, pp. 420-422
SHAPING OF DROSOPHILA ALCOHOL-DEHYDROGENASE THROUGH EVOLUTION - RELATIONSHIP WITH ENZYME FUNCTIONALITY
Authors: ATRIAN S SANCHEZPULIDO L GONZALEZDUARTE R VALENCIA A
Citation: S. Atrian et al., SHAPING OF DROSOPHILA ALCOHOL-DEHYDROGENASE THROUGH EVOLUTION - RELATIONSHIP WITH ENZYME FUNCTIONALITY, Journal of molecular evolution, 47(2), 1998, pp. 211-221
THE REFINED CRYSTAL-STRUCTURE OF DROSOPHILA-LEBANONENSIS ALCOHOL-DEHYDROGENASE AT 1.9 ANGSTROM RESOLUTION
Authors: BENACH J ATRIAN S GONZALEZDUARTE R LADENSTEIN R
Citation: J. Benach et al., THE REFINED CRYSTAL-STRUCTURE OF DROSOPHILA-LEBANONENSIS ALCOHOL-DEHYDROGENASE AT 1.9 ANGSTROM RESOLUTION, Journal of Molecular Biology, 282(2), 1998, pp. 383-399
A NEW AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS MAPS ON CHROMOSOME 2Q31-Q33
Authors: BAYES M GOLDARACENA B MARTINEZMIR A IRAGUIMADOZ MI SOLANS T CHIVELET P BUSSAGLIA E RAMOSARROYO MA BAIGET M VILAGELIU L BALCELLS S GONZALEZDUARTE R GRINBERG D
Citation: M. Bayes et al., A NEW AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS MAPS ON CHROMOSOME 2Q31-Q33, Journal of Medical Genetics, 35(2), 1998, pp. 141-145
RECOMBINANT SYNTHESIS OF MOUSE ZN3-BETA AND ZN4-ALPHA METALLOTHIONEIN-1 DOMAINS AND CHARACTERIZATION OF THEIR CADMIUM(II) BINDING-CAPACITY
Authors: CAPDEVILA M COLS N ROMEROISART N GONZALEZDUARTE R ATRIAN S GONZALEZDUARTE P
Citation: M. Capdevila et al., RECOMBINANT SYNTHESIS OF MOUSE ZN3-BETA AND ZN4-ALPHA METALLOTHIONEIN-1 DOMAINS AND CHARACTERIZATION OF THEIR CADMIUM(II) BINDING-CAPACITY, Cellular and molecular life sciences, 53(8), 1997, pp. 681-688
A NEW LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP19) MAPS TO 1P13-1P21
Authors: MARTINEZMIR A BAYES M VILAGELIU L GRINBERG D AYUSO C DELRIO T GARCIASANDOVAL B BUSSAGLIA E BAIGET M GONZALEZDUARTE R BALCELLS S
Citation: A. Martinezmir et al., A NEW LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP19) MAPS TO 1P13-1P21, Genomics, 40(1), 1997, pp. 142-146
CHARACTERIZATION AND MOLECULAR ANALYSIS OF ADH RETROSEQUENCES IN SPECIES OF THE DROSOPHILA-OBSCURA GROUP
Authors: LUQUE T MARFANY G GONZALEZDUARTE R
Citation: T. Luque et al., CHARACTERIZATION AND MOLECULAR ANALYSIS OF ADH RETROSEQUENCES IN SPECIES OF THE DROSOPHILA-OBSCURA GROUP, Molecular biology and evolution, 14(12), 1997, pp. 1316-1325
PUTATIVE ASSOCIATION OF A MUTANT ROM1 ALLELE WITH RETINITIS-PIGMENTOSA
Authors: MARTINEZMIR A VILELA C BAYES M VALVERDE D DAIN L BENEYTO M MARCO M BAIGET M GRINBERG D BALCELLS S GONZALEZDUARTE R VILAGELIU L
Citation: A. Martinezmir et al., PUTATIVE ASSOCIATION OF A MUTANT ROM1 ALLELE WITH RETINITIS-PIGMENTOSA, Human genetics, 99(6), 1997, pp. 827-830
MOLECULAR APPROACHES TO IDENTIFY GENES IN THE 21Q11.2 REGION
Authors: VALERO R BAYES M MONROS E SANCHEZ F MARFANY G GONZALEZDUARTE R
Citation: R. Valero et al., MOLECULAR APPROACHES TO IDENTIFY GENES IN THE 21Q11.2 REGION, Cytogenetics and cell genetics, 77, 1997, pp. 14-14
FINE MOLECULAR CHARACTERIZATION OF 21-CHROMOSOME ANEUPLOIDIES BY PCR WITH FLUORESCENT PRIMERS
Authors: VALERO R GONZALEZDUARTE R MARFANY G
Citation: R. Valero et al., FINE MOLECULAR CHARACTERIZATION OF 21-CHROMOSOME ANEUPLOIDIES BY PCR WITH FLUORESCENT PRIMERS, Cytogenetics and cell genetics, 77, 1997, pp. 30-31
BINDING OF EXCESS CADMIUM(II) TO CD-7-METALLOTHIONEIN FROM RECOMBINANT MOUSE ZN-7-METALLOTHIONEIN-1 - UV-VIS ABSORPTION AND CIRCULAR-DICHROISM STUDIES AND THEORETICAL LOCATION APPROACH BY SURFACE ACCESSIBILITYANALYSIS
Authors: COLS N ROMEROISART N CAPDEVILA M OLIVA B GONZALEZDUARTE P GONZALEZDUARTE R ATRIAN S
Citation: N. Cols et al., BINDING OF EXCESS CADMIUM(II) TO CD-7-METALLOTHIONEIN FROM RECOMBINANT MOUSE ZN-7-METALLOTHIONEIN-1 - UV-VIS ABSORPTION AND CIRCULAR-DICHROISM STUDIES AND THEORETICAL LOCATION APPROACH BY SURFACE ACCESSIBILITYANALYSIS, Journal of inorganic biochemistry, 68(3), 1997, pp. 157-166
DROSOPHILA ALCOHOL-DEHYDROGENASE - EVALUATION OF SER(139) SITE-DIRECTED MUTANTS
Authors: COLS N ATRIAN S BENACH J LADENSTEIN R GONZALEZDUARTE R
Citation: N. Cols et al., DROSOPHILA ALCOHOL-DEHYDROGENASE - EVALUATION OF SER(139) SITE-DIRECTED MUTANTS, FEBS letters, 413(2), 1997, pp. 191-193
CADMIUM(II) BINDING TO RECOMBINANT MOUSE ZN-3-BETA-METALLOTHIONEIN-1
Authors: CAPDEVILA M ROMERO N COLS N ATRIAN S STILLMAN MJ GONZALEZDUARTE R GONZALEZDUARTE P
Citation: M. Capdevila et al., CADMIUM(II) BINDING TO RECOMBINANT MOUSE ZN-3-BETA-METALLOTHIONEIN-1, Anales de quimica, 92(4), 1996, pp. 199-201
2 NOVEL (1098INSA AND Y313H) AND ONE RARE (R359Q) MUTATIONS DETECTED IN EXON-8 OF THE BETA-GLUCOCEREBROSIDASE GENE IN GAUCHERS-DISEASE PATIENTS
Authors: CORMAND B VILAGELIU L BALCELLS S GONZALEZDUARTE R CHABAS A GRINBERG D
Citation: B. Cormand et al., 2 NOVEL (1098INSA AND Y313H) AND ONE RARE (R359Q) MUTATIONS DETECTED IN EXON-8 OF THE BETA-GLUCOCEREBROSIDASE GENE IN GAUCHERS-DISEASE PATIENTS, Human mutation, 7(3), 1996, pp. 272-274
A NOVEL MUTATION IN EXON-17 OF THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN 2 RP SISTERS OF A CONSANGUINEOUS FAMILY
Authors: VALVERDE D SOLANS T GRINBERG D BALCELLS S VILAGELIU L BAYES M CHIVELET P BESMOND C GOOSSENS M GONZALEZDUARTE R BAIGET M
Citation: D. Valverde et al., A NOVEL MUTATION IN EXON-17 OF THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN 2 RP SISTERS OF A CONSANGUINEOUS FAMILY, Human genetics, 97(1), 1996, pp. 35-38
NEURONOPATHIC AND NON-NEURONOPATHIC PRESENTATION OF GAUCHER DISEASE IN PATIENTS WITH THE 3RD MOST COMMON MUTATION (D409H) IN SPAIN
Authors: CHABAS A CORMAND B BALCELLS S GONZALEZDUARTE R CASANOVA C COLOMER J VILAGELIU L GRINBERG D
Citation: A. Chabas et al., NEURONOPATHIC AND NON-NEURONOPATHIC PRESENTATION OF GAUCHER DISEASE IN PATIENTS WITH THE 3RD MOST COMMON MUTATION (D409H) IN SPAIN, Journal of inherited metabolic disease, 19(6), 1996, pp. 798-800
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN SPAIN - EVALUATION OF 4 GENES AND 2 LOCI INVOLVED IN THE DISEASE
Authors: BAYES M MARTINEZMIR A VALVERDE D DELRIO E VILAGELIU L GRINBERG D BALCELLS S AYUSO C BAIGET M GONZALEZDUARTE R
Citation: M. Bayes et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN SPAIN - EVALUATION OF 4 GENES AND 2 LOCI INVOLVED IN THE DISEASE, Clinical genetics, 50(5), 1996, pp. 380-387
GAUCHER DISEASE IN SPANISH PATIENTS - ANALYSIS OF 8 MUTATIONS
Authors: CORMAND B VILAGELIU L BURGUERA JM BALCELLS S GONZALEZDUARTE R GRINBERG D CHABAS A
Citation: B. Cormand et al., GAUCHER DISEASE IN SPANISH PATIENTS - ANALYSIS OF 8 MUTATIONS, Human mutation, 5(4), 1995, pp. 303-309
HOMOZYGOUS TANDEM DUPLICATION WITHIN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AS A CAUSE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
Authors: BAYES M GIORDANO M BALCELLS S GRINBERG D VILAGELIU L MARTINEZ I AYUSO C BENITEZ J RAMOSARROYO MA CHIVELET P SOLANS T VALVERDE D AMSELEM S GOOSSENS M BAIGET M GONZALEZDUARTE R BESMOND C
Citation: M. Bayes et al., HOMOZYGOUS TANDEM DUPLICATION WITHIN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AS A CAUSE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, Human mutation, 5(3), 1995, pp. 228-234
WELL-ORDERED CRYSTALS OF A SHORT-CHAIN ALCOHOL-DEHYDROGENASE FROM DROSOPHILA-LEBANONENSIS - RE-EVALAUTION OF THE CRYSTALLOGRAPHIC DATA AND ROTATION FUNCTION-ANALYSIS
Authors: LADENSTEIN R TIBBELIN G KARSHIKOFF A ATRIAN S GONZALEZDUARTE R
Citation: R. Ladenstein et al., WELL-ORDERED CRYSTALS OF A SHORT-CHAIN ALCOHOL-DEHYDROGENASE FROM DROSOPHILA-LEBANONENSIS - RE-EVALAUTION OF THE CRYSTALLOGRAPHIC DATA AND ROTATION FUNCTION-ANALYSIS, Acta crystallographica. Section D, Biological crystallography, 51, 1995, pp. 69-72
EVIDENCE AGAINST INVOLVEMENT OF RECOVERIN IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 42 SPANISH FAMILIES
Authors: BAYES M VALVERDE D BALCELLS S GRINBERG D VILAGELIU L BENITEZ J AYUSO C BENEYTO M BAIGET M GONZALEZDUARTE R
Citation: M. Bayes et al., EVIDENCE AGAINST INVOLVEMENT OF RECOVERIN IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 42 SPANISH FAMILIES, Human genetics, 96(1), 1995, pp. 89-94
UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION
Authors: CHABAS A CORMAND B GRINBERG D BURGUERA JM BALCELLS S MERINO JL MATE I SOBRINO JA GONZALEZDUARTE R VILAGELIU L
Citation: A. Chabas et al., UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION, Journal of Medical Genetics, 32(9), 1995, pp. 740-742
INVOLVEMENT OF THE C-TERMINAL TAIL IN THE ACTIVITY OF DROSOPHILA ALCOHOL-DEHYDROGENASE - EVALUATION OF TRUNCATED PROTEINS CONSTRUCTED BY SITE-DIRECTED MUTAGENESIS
Authors: ALBALAT R VALLS M FIBLA J ATRIAN S GONZALEZDUARTE R
Citation: R. Albalat et al., INVOLVEMENT OF THE C-TERMINAL TAIL IN THE ACTIVITY OF DROSOPHILA ALCOHOL-DEHYDROGENASE - EVALUATION OF TRUNCATED PROTEINS CONSTRUCTED BY SITE-DIRECTED MUTAGENESIS, European journal of biochemistry, 233(2), 1995, pp. 498-505
Risultati: 1-25 | 26-36