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Results: 1-10 |
Results: 10
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
THE PRO347LEU MUTATION OF THE RODOPSIN GE NE IN A SPANISH FAMILY WITHAUTOSOMAL-DOMINANT PIGMENTARY RETINOSIS
Authors: TRUJILLO MJ DELRIO T REIG C BENITEZ J SANDOVAL BG CARBALLO M AYUSO C
Citation: Mj. Trujillo et al., THE PRO347LEU MUTATION OF THE RODOPSIN GE NE IN A SPANISH FAMILY WITHAUTOSOMAL-DOMINANT PIGMENTARY RETINOSIS, Medicina Clinica, 110(13), 1998, pp. 501-504
A GENE-DOSAGE PCR METHOD FOR THE DETECTION OF ELASTIN GENE DELETIONS IN PATIENTS WITH WILLIAMS-SYNDROME
Authors: DELRIO T URBAN Z CSISZAR K BOYD CD
Citation: T. Delrio et al., A GENE-DOSAGE PCR METHOD FOR THE DETECTION OF ELASTIN GENE DELETIONS IN PATIENTS WITH WILLIAMS-SYNDROME, Clinical genetics, 54(2), 1998, pp. 129-135
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
EFFECTS OF ESTROGEN USE ON LENS TRANSMITTANCE IN POSTMENOPAUSAL WOMEN
Authors: DELCASTILLO JMB DELRIO T GARCIASANCHEZ J
Citation: Jmb. Delcastillo et al., EFFECTS OF ESTROGEN USE ON LENS TRANSMITTANCE IN POSTMENOPAUSAL WOMEN, Ophthalmology, 104(6), 1997, pp. 970-973
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
NOVEL RHODOPSIN MUTATION IN AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILY - PHENOTYPIC VARIATION IN BOTH HETEROZYGOTE AND HOMOZYGOTE VAL137MET MUTANT PATIENTS
Authors: AYUSO C TRUJILLO MJ ROBLEDO M RAMOS C BENITEZ J MARTINOSES F DELRIO T GARCIASANDOVAL B
Citation: C. Ayuso et al., NOVEL RHODOPSIN MUTATION IN AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILY - PHENOTYPIC VARIATION IN BOTH HETEROZYGOTE AND HOMOZYGOTE VAL137MET MUTANT PATIENTS, Human genetics, 98(1), 1996, pp. 51-54
A 4-YEAR FOLLOW-UP-STUDY OF BLOOD-RETINAL BARRIER PERMEABILITY IN TYPE-I DIABETICS
Authors: CASTILLO A DELCASTILLO JMB DIAZ D DELRIO T TOLEDANO N JIMENEZALFARO I GARCIASANCHEZ J
Citation: A. Castillo et al., A 4-YEAR FOLLOW-UP-STUDY OF BLOOD-RETINAL BARRIER PERMEABILITY IN TYPE-I DIABETICS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 480-480
FAMILIAR STUDIES ON X-LINKED RETINAL DISORDERS
Authors: AYUSO C DELRIO T ROBLEDO M MARTINOSES F SERRANO JM
Citation: C. Ayuso et al., FAMILIAR STUDIES ON X-LINKED RETINAL DISORDERS, Vision research, 35, 1995, pp. 377-377
AN HOMOZYGOUS G-TO-A TRANSITION IN EXON-13 OF THE BETA-SUBUNIT OF RODPHOSPHODIESTERASE IN 2 RP PATIENTS OF A CONSANGUINEOUS FAMILY
Authors: VALVERDE D SEMINAGO R DELRIO E AYUSO C GARCIASANDOVAL B DELRIO T BAYES M BALCELLS S GONZALEZDUARTE R BAIGET M
Citation: D. Valverde et al., AN HOMOZYGOUS G-TO-A TRANSITION IN EXON-13 OF THE BETA-SUBUNIT OF RODPHOSPHODIESTERASE IN 2 RP PATIENTS OF A CONSANGUINEOUS FAMILY, American journal of human genetics, 57(4), 1995, pp. 1332-1332
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