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Results: 1-25 | 26-45
Results: 1-25/45
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
SPECTRUM OF MUTATIONS AND SEQUENCE VARIANTS IN THE FALDH GENE IN PATIENTS WITH SJOGREN-LARSSON-SYNDROME
Authors: SILLEN A ANTONLAMPRECHT I BRAUNQUENTIN C KRAUS CS SAYLI BS AYUSO C JAGELL S KUSTER W WADELIUS C
Citation: A. Sillen et al., SPECTRUM OF MUTATIONS AND SEQUENCE VARIANTS IN THE FALDH GENE IN PATIENTS WITH SJOGREN-LARSSON-SYNDROME, Human mutation, 12(6), 1998, pp. 377-384
NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE-ONSET OPEN-ANGLE GLAUCOMA
Authors: MANSERGH FC KENNA PF AYUSO C KIANG AS HUMPHRIES P FARRAR GJ
Citation: Fc. Mansergh et al., NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE-ONSET OPEN-ANGLE GLAUCOMA, Human mutation, 11(3), 1998, pp. 244-251
SER186PRO MUTATION OF RHO-GENE IN A SPANISH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP) FAMILY
Authors: AYUSO C TRUJILLO MJ GARCIASANDOVAL B LORDA I SANZ R DEALBA MR IBANEZ A RAMOS C
Citation: C. Ayuso et al., SER186PRO MUTATION OF RHO-GENE IN A SPANISH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP) FAMILY, European journal of human genetics, 6, 1998, pp. 1005-1005
CLINICAL-STUDY OF 10 PATIENTS WITH BARDET-BIEDL-SYNDROME
Authors: LORDASANCHEZ I TRUJILLO MJ SANZ R DEALBA MR RAMOS C VALVERDE D AYUSO C
Citation: I. Lordasanchez et al., CLINICAL-STUDY OF 10 PATIENTS WITH BARDET-BIEDL-SYNDROME, European journal of human genetics, 6, 1998, pp. 1008-1008
A MELAS PHENOTYPE ASSOCIATED TO A PATERNAL INHERITED INVERSION OF CHROMOSOME-10
Authors: LORDASANCHEZ I RUIZ P DEALBA MR SARASA JL MONTOYA J TRUJILLO MJ SANZ R RAMOS C AYUSO C
Citation: I. Lordasanchez et al., A MELAS PHENOTYPE ASSOCIATED TO A PATERNAL INHERITED INVERSION OF CHROMOSOME-10, European journal of human genetics, 6, 1998, pp. 1009-1009
CONFINED PLACENTAL MOSAICISM INVOLVING TRISOMY-18 CELL-LINE - 3 NEW CASES
Authors: IBANEZ MA DEALBA MR SANZ R FERNANDEZMOYA JM DIAZRECASENS J GACITUAGA C INFANTES F AYUSO C RAMOS C
Citation: Ma. Ibanez et al., CONFINED PLACENTAL MOSAICISM INVOLVING TRISOMY-18 CELL-LINE - 3 NEW CASES, European journal of human genetics, 6, 1998, pp. 2043-2043
PRENATAL-DIAGNOSIS USING FISH ON FETAL CELLS OBTAINED FROM MATERNAL BLOOD
Authors: DEALBA MR JURADO A SANZ R IBANEZ A PALOMINO P RAMOS C AYUSO C
Citation: Mr. Dealba et al., PRENATAL-DIAGNOSIS USING FISH ON FETAL CELLS OBTAINED FROM MATERNAL BLOOD, European journal of human genetics, 6, 1998, pp. 2043-2043
CHROMOSOMAL MOSAICISM OF ISOCHROMOSOME 11Q IN CHORIONIC VILLUS SAMPLING
Authors: RAMOS C SANZ R DEALBA MR AYUSO C FERNANDEZMOYA JM ROBLEDO M CALLEGO J DIAZRECASENS J
Citation: C. Ramos et al., CHROMOSOMAL MOSAICISM OF ISOCHROMOSOME 11Q IN CHORIONIC VILLUS SAMPLING, European journal of human genetics, 6, 1998, pp. 2054-2054
MOLECULAR ANALYSIS OF 13 BARDET-BIELD-SYNDROME FAMILIES FROM SPAIN
Authors: BRICHETTE I VAZQUEZGUNDIN F LORDA I BAIGET M AYUSO C VALVERDE D
Citation: I. Brichette et al., MOLECULAR ANALYSIS OF 13 BARDET-BIELD-SYNDROME FAMILIES FROM SPAIN, European journal of human genetics, 6, 1998, pp. 4248-4248
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
MUTATION OF A GENE ENCODING A PROTEIN WITH EXTRACELLULAR-MATRIX MOTIFS IN USHER-SYNDROME TYPE-IIA
Authors: EUDY JD WESTON MD YAO SF HOOVER DM REHM HL MAEDMONDS M YAN D AHMAD I CHENG JJ AYUSO C CREMERS C DAVENPORT S MOLLER C TALMADGE CB BEISEL KW TAMAYO M MORTON CC SWAROOP A KIMBERLING WJ SUMEGI J
Citation: Jd. Eudy et al., MUTATION OF A GENE ENCODING A PROTEIN WITH EXTRACELLULAR-MATRIX MOTIFS IN USHER-SYNDROME TYPE-IIA, Science, 280(5370), 1998, pp. 1753-1757
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
LINKAGE ANALYSIS IN USHER-SYNDROME TYPE-I (USH1) FAMILIES FROM SPAIN
Authors: ESPINOS C NAJERA C MILLAN JM AYUSO C BAIGET M PEREZGARRIGUES H RODRIGO O VILELA C BENEYTO M
Citation: C. Espinos et al., LINKAGE ANALYSIS IN USHER-SYNDROME TYPE-I (USH1) FAMILIES FROM SPAIN, Journal of Medical Genetics, 35(5), 1998, pp. 391-398
A NOVEL ASP380ALA MUTATION IN THE GLC1A MYOCILIN GENE IN A FAMILY WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/
Authors: KENNAN AM MANSERGH FC FINGERT JH CLARK T AYUSO C KENNA PF HUMPHRIES P FARRAR GJ
Citation: Am. Kennan et al., A NOVEL ASP380ALA MUTATION IN THE GLC1A MYOCILIN GENE IN A FAMILY WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/, Journal of Medical Genetics, 35(11), 1998, pp. 957-960
RESIDUAL SPLENIC FUNCTION AFTER LAPAROSCOPIC SPLENECTOMY - A CLINICALCONCERN
Authors: TARGARONA EM ESPERT JJ BALAGUE C SUGRANES G AYUSO C LOMENA F BOSCH F TRIAS M
Citation: Em. Targarona et al., RESIDUAL SPLENIC FUNCTION AFTER LAPAROSCOPIC SPLENECTOMY - A CLINICALCONCERN, Archives of surgery, 133(1), 1998, pp. 56-60
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
GA-67 SCINTIGRAPHY FOR THE EVALUATION OF RECURRENCES AND RESIDUAL MASSES IN PATIENTS WITH LYMPHOMA
Authors: SETOAIN FJ PONS F HERRANZ R VIDALSICART S LOMENA F AYUSO C MONTSERRAT E SETOAIN J
Citation: Fj. Setoain et al., GA-67 SCINTIGRAPHY FOR THE EVALUATION OF RECURRENCES AND RESIDUAL MASSES IN PATIENTS WITH LYMPHOMA, Nuclear medicine communications, 18(5), 1997, pp. 405-411
A CLINICAL, CYTOGENETIC AND MOLECULAR STU DY OF 10 PATIENTS WITH THE PRADER-WILLI-SYNDROME
Authors: BARABASH A ROBLEDO M SANZ R RENEDO M RAMOS C AYUSO C BENITEZ J
Citation: A. Barabash et al., A CLINICAL, CYTOGENETIC AND MOLECULAR STU DY OF 10 PATIENTS WITH THE PRADER-WILLI-SYNDROME, Medicina Clinica, 108(8), 1997, pp. 304-306
2 NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN-ANGLE GLAUCOMA
Authors: MANSERGH FC KENNA PF AYUSO C KIANG S HUMPHRIES P FARRAR GJ
Citation: Fc. Mansergh et al., 2 NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN-ANGLE GLAUCOMA, American journal of human genetics, 61(4), 1997, pp. 1985-1985
SPECTRUM OF MUTATIONS AND SEQUENCE VARIANTS IN THE FALDH GENE IN PATIENTS WITH SJOGREN-LARSSON-SYNDROME
Authors: SILLEN A KRAUS CS ANTONLAMBRECHT I JAGELL S KUSTER W SAYLI BS AYUSO C WADELIUS C
Citation: A. Sillen et al., SPECTRUM OF MUTATIONS AND SEQUENCE VARIANTS IN THE FALDH GENE IN PATIENTS WITH SJOGREN-LARSSON-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2029-2029
G106R RHODOPSIN MUTATION IS ALSO PRESENT IN SPANISH ADRP PATIENTS
Authors: AYUSO C REIG C GARCIASANDOVAL B TRUJILLO MJ ANTINOLO G BORREGO S CARBALLO M
Citation: C. Ayuso et al., G106R RHODOPSIN MUTATION IS ALSO PRESENT IN SPANISH ADRP PATIENTS, Ophthalmic genetics, 17(3), 1996, pp. 95-101
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
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
Risultati: 1-25 | 26-45