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Results: 1-24 |
Results: 24
MUTATION 1091DELC IS HIGHLY PREVALENT IN SPANISH SANFILIPPO-SYNDROME TYPE-A PATIENTS
Authors: MONTFORT M VILAGELIU L GARCIAGIRALT N GUIDI S COLL MJ CHABAS A GRINBERG D
Citation: M. Montfort et al., MUTATION 1091DELC IS HIGHLY PREVALENT IN SPANISH SANFILIPPO-SYNDROME TYPE-A PATIENTS, Human mutation, 12(4), 1998, pp. 274-279
MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME
Authors: CORMAND B GRINBERG D GORT L CHABAS A VILAGELIU L
Citation: B. Cormand et al., MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME, Human mutation, 11(4), 1998, pp. 295-305
RELIABLE CO-SEGREGATION ANALYSIS FOR PRENATAL-DIAGNOSIS AND HETEROZYGOTE DETECTION IN GAUCHER-DISEASE
Authors: CORMAND B MONTFORT M CHABAS A GRINBERG D VILAGELIU L
Citation: B. Cormand et al., RELIABLE CO-SEGREGATION ANALYSIS FOR PRENATAL-DIAGNOSIS AND HETEROZYGOTE DETECTION IN GAUCHER-DISEASE, Prenatal diagnosis, 18(3), 1998, pp. 207-212
RECURRENCE OF THE D409H MUTATION IN SPANISH GAUCHER-DISEASE PATIENTS - DESCRIPTION OF A NEW HOMOZYGOUS PATIENT AND HAPLOTYPE ANALYSIS
Authors: CHABAS A GORT L MONTFORT M CASTELLO F DOMINGUEZ MC GRINBERG D VILAGELIU L
Citation: A. Chabas et al., RECURRENCE OF THE D409H MUTATION IN SPANISH GAUCHER-DISEASE PATIENTS - DESCRIPTION OF A NEW HOMOZYGOUS PATIENT AND HAPLOTYPE ANALYSIS, Journal of Medical Genetics, 35(9), 1998, pp. 775-777
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
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
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
GENETIC FINE LOCALIZATION OF THE BETA-GLUCOCEREBROSIDASE (GBA) AND PROSAPOSIN (PSAP) GENES - IMPLICATIONS FOR GAUCHER-DISEASE
Authors: CORMAND B MONTFORT M CHABAS A VILAGELIU L GRINBERG D
Citation: B. Cormand et al., GENETIC FINE LOCALIZATION OF THE BETA-GLUCOCEREBROSIDASE (GBA) AND PROSAPOSIN (PSAP) GENES - IMPLICATIONS FOR GAUCHER-DISEASE, Human genetics, 100(1), 1997, pp. 75-79
2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES
Authors: CORMAND B GRINBERG D GORT L FIUMARA A BARONE R VILAGELIU L CHABAS A
Citation: B. Cormand et al., 2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES, American journal of medical genetics, 70(4), 1997, pp. 437-443
IDENTIFICATION OF A NOVEL R552Q MUTATION IN EXON-13 OF THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE GENE IN A SPANISH FAMILY WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
Authors: VALVERDE D BAIGET M SEMINAGO R DELRIO F GARCIASANDOVAL B DELRIO T BAYES M BALCELLS S MARTINEZ A GRINBERG D AYUSO C
Citation: D. Valverde et al., IDENTIFICATION OF A NOVEL R552Q MUTATION IN EXON-13 OF THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE GENE IN A SPANISH FAMILY WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, Human mutation, 8(4), 1996, pp. 393-394
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
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
ANALYSIS OF GENES AND LOCI INVOLVED IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 47 SPANISH FAMILIES
Authors: GRINBERG D BAYES M MARTINEZ A VALVERDE D DELRIO F AYUSO C VILAGELIU L GONZALEZDUARTE R BAIGET M BALCELLS S
Citation: D. Grinberg et al., ANALYSIS OF GENES AND LOCI INVOLVED IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 47 SPANISH FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1916-1916
GENETIC FINE LOCALIZATION OF THE ARRESTIN (S-ANTIGEN) GENE 4-CM DISTAL FROM D2S17A
Authors: VALVERDE D BAYES M MARTINEZ I GRINBERG D VILAGELIU L BALCELLS S GONZALEZDUARTE R BAIGET M
Citation: D. Valverde et al., GENETIC FINE LOCALIZATION OF THE ARRESTIN (S-ANTIGEN) GENE 4-CM DISTAL FROM D2S17A, Human genetics, 94(2), 1994, pp. 193-194
IDENTIFICATION OF POSITIVE AND NEGATIVE REGULATORY ELEMENTS INVOLVED IN THE RETINOIC ACID CAMP INDUCTION OF FGF-3 TRANSCRIPTION IN F9 CELLS
Authors: MURAKAMI A GRINBERG D THURLOW J DICKSON C
Citation: A. Murakami et al., IDENTIFICATION OF POSITIVE AND NEGATIVE REGULATORY ELEMENTS INVOLVED IN THE RETINOIC ACID CAMP INDUCTION OF FGF-3 TRANSCRIPTION IN F9 CELLS, Nucleic acids research, 21(23), 1993, pp. 5351-5359
ENTEROPATHOGENIC MICROORGANISMS IN CHILDR EN WITH ACUTE DIARRHEA IN 2HOSPITALS OF ROSARIO, ARGENTINA
Authors: NOTARIO R MORALES E CARMELENGO E BORDA N BINSZTEIN N DEPETRIS A GAMBANDE T GRINBERG D HERRERA V SAS J BIROCCO S SEVERO L PERALTA V EIGUER T DLUGOVITZKY D SAHIAN C RIVAS M
Citation: R. Notario et al., ENTEROPATHOGENIC MICROORGANISMS IN CHILDR EN WITH ACUTE DIARRHEA IN 2HOSPITALS OF ROSARIO, ARGENTINA, Medicina, 53(4), 1993, pp. 289-299
FREQUENCY OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN THE SPANISH POPULATION
Authors: CHABAS A CASTELLVI S BAYES M BALCELLS S GRINBERG D VILAGELIU L MARFANY G LISSENS W GONZALEZDUARTE R
Citation: A. Chabas et al., FREQUENCY OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN THE SPANISH POPULATION, Clinical genetics, 44(6), 1993, pp. 320-323
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA - EXCLUSION OF THE GENE FOR THE BETA-SUBUNIT OF THE CGMP PHOSPHODIESTERASE IN 21 SPANISH FAMILIES
Authors: GONZALEZDUARTE R BAYES M BALCELLS S GRINBERG D VILAGELIU L MARTINEZ I BHATTACHARYA S AYUSO C BENITEZ J RAMOS MA SOLANS T DELRIO E BAIGET M
Citation: R. Gonzalezduarte et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA - EXCLUSION OF THE GENE FOR THE BETA-SUBUNIT OF THE CGMP PHOSPHODIESTERASE IN 21 SPANISH FAMILIES, American journal of human genetics, 53(3), 1993, pp. 1007-1007
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