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Results: 1-25 | 26-45
Results: 1-25/45
ABCR UNITES WHAT OPHTHALMOLOGISTS DIVIDE(S)
Authors: VANDRIEL MA MAUGERI A KLEVERING BJ HOYNG CB CREMERS FPM
Citation: Ma. Vandriel et al., ABCR UNITES WHAT OPHTHALMOLOGISTS DIVIDE(S), Ophthalmic genetics, 19(3), 1998, pp. 117-122
GENETIC CAUSES OF HEARING-LOSS
Authors: CREMERS FPM
Citation: Fpm. Cremers, GENETIC CAUSES OF HEARING-LOSS, Current opinion in neurology, 11(1), 1998, pp. 11-16
POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-2
Authors: SCHWAHN U LENZNER S DONG J FEIL S HINZMANN B VANDUIJNHOVEN G KIRSCHNER R HEMBERGER M BERGEN AAB ROSENBERG T PINCKERS AJLG FUNDELE R ROSENTHAL A CREMERS FPM ROPERS HH BERGER W
Citation: U. Schwahn et al., POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-2, Nature genetics, 19(4), 1998, pp. 327-332
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR
Authors: DENHOLLANDER A VANDEPOL DJR VANDRIEL M VANHAREN FJJ KNOERS NVAM TIJMES N BERGEN AAB ROHRSCHNEIDER K BLANKENAGEL A PINCKERS AJLG DEUTMAN AF HOYNG CB CREMERS FPM
Citation: A. Denhollander et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR, European journal of human genetics, 6, 1998, pp. 501-501
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR
Authors: CREMERS FPM VANDEPOL DJR VANDRIEL M DENHOLLANDER AI VANHAREN FJJ KNOERS NVAM TIJMES N BERGEN AAB ROHRSCHNEIDER K BLANKENAGEL A PINCKERS AJLG DEUTMAN AF HOYNG CB
Citation: Fpm. Cremers et al., AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA AND CONE-ROD DYSTROPHY CAUSED BY SPLICE-SITE MUTATIONS IN THE STARGARDTS-DISEASE GENE ABCR, Human molecular genetics, 7(3), 1998, pp. 355-362
COMPLETE EXON-INTRON STRUCTURE OF THE RETINA-SPECIFIC ATP BINDING TRANSPORTER GENE (ABCR) ALLOWS THE IDENTIFICATION OF NOVEL MUTATIONS UNDERLYING STARGARDT-DISEASE
Authors: GERBER S ROZET JM VANDEPOL TJR HOYNG CB MUNNICH A BLANKENAGEL A KAPLAN J CREMERS FPM
Citation: S. Gerber et al., COMPLETE EXON-INTRON STRUCTURE OF THE RETINA-SPECIFIC ATP BINDING TRANSPORTER GENE (ABCR) ALLOWS THE IDENTIFICATION OF NOVEL MUTATIONS UNDERLYING STARGARDT-DISEASE, Genomics, 48(1), 1998, pp. 139-142
ASSIGNMENT OF H7365 (C9ORF2) TO HUMAN-CHROMOSOME BAND 9Q31 BY SOMATIC-CELL HYBRID ANALYSIS AND FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: EIB DW MERKX GFM MARTENS GJM CREMERS FPM
Citation: Dw. Eib et al., ASSIGNMENT OF H7365 (C9ORF2) TO HUMAN-CHROMOSOME BAND 9Q31 BY SOMATIC-CELL HYBRID ANALYSIS AND FLUORESCENCE IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 81(3-4), 1998, pp. 180-181
MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE
Authors: VANDENHURK JAJM SCHWARTZ M VANBOKHOVEN H VANDEPOL TJR BOGERD L PINCKERS AJLG BLEEKERWAGEMAKERS EM PAWLOWITZKI IH RUTHER K ROPERS HH CREMERS FPM
Citation: Jajm. Vandenhurk et al., MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE, Human mutation, 9(2), 1997, pp. 110-117
THE MOLECULAR-BASIS OF X-LINKED DEAFNESS TYPE-3 (DFN3) IN 2 SPORADIC CASES - IDENTIFICATION OF A SOMATIC MOSAICISM FOR A POU3F4 MISSENSE MUTATION
Authors: DEKOK YJM CREMERS CWRJ ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., THE MOLECULAR-BASIS OF X-LINKED DEAFNESS TYPE-3 (DFN3) IN 2 SPORADIC CASES - IDENTIFICATION OF A SOMATIC MOSAICISM FOR A POU3F4 MISSENSE MUTATION, Human mutation, 10(3), 1997, pp. 207-211
MOUSE CHOROIDEREMIA GENE MUTATION CAUSES PHOTORECEPTOR CELL DEGENERATION AND IS NOT TRANSMITTED THROUGH THE FEMALE GERMLINE
Authors: VANDENHURK JAJM HENDRIKS W VANDEPOL DJR OERLEMANS F JAISSLE G RUTHER K KOHLER K HARTMANN J ZRENNER E VANBOKHOVEN H WIERINGA B ROPERS HH CREMERS FPM
Citation: Jajm. Vandenhurk et al., MOUSE CHOROIDEREMIA GENE MUTATION CAUSES PHOTORECEPTOR CELL DEGENERATION AND IS NOT TRANSMITTED THROUGH THE FEMALE GERMLINE, Human molecular genetics, 6(6), 1997, pp. 851-858
THE CHOROIDEREMIA MUTATION RESULTS IN PHOTORECEPTOR CELL DEGENERATIONIN CHIMERIC MICE BUT IS EMBRYONIC LETHAL IN HEMIZYGOTIC MICE
Authors: CREMERS FPM VANDENHURK JAJM HENDRIKS W VANDEPOL TJR OERLEMANS F JAISSLE G KOHLER K RUTHER K HARTMANN J ZRENNER E WIERINGA B ROPERS HH
Citation: Fpm. Cremers et al., THE CHOROIDEREMIA MUTATION RESULTS IN PHOTORECEPTOR CELL DEGENERATIONIN CHIMERIC MICE BUT IS EMBRYONIC LETHAL IN HEMIZYGOTIC MICE, The FASEB journal, 11(9), 1997, pp. 798-798
GENETIC-LINKAGE OF 2 DIFFERENT PHENOTYPES OF ROD AND CONE DYSTROPHY IN A FAMILY WITH PSEUDO-DOMINANT INHERITANCE TO 1P21-P13
Authors: HOYNG CB DEUTMAN AF VANDEPOL D KNOERS N PINCKERS A CREMERS FPM
Citation: Cb. Hoyng et al., GENETIC-LINKAGE OF 2 DIFFERENT PHENOTYPES OF ROD AND CONE DYSTROPHY IN A FAMILY WITH PSEUDO-DOMINANT INHERITANCE TO 1P21-P13, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3690-3690
A HIGHLY POLYMORPHIC MICROSATELLITE MARKER LOCATED WITHIN THE CHOROIDEREMIA GENE
Authors: VANBOKHOVEN H VANDENHURK JAJM BOGERD L VANDEPOL DJR ROPERS HH CREMERS FPM
Citation: H. Vanbokhoven et al., A HIGHLY POLYMORPHIC MICROSATELLITE MARKER LOCATED WITHIN THE CHOROIDEREMIA GENE, Ophthalmic genetics, 17(3), 1996, pp. 119-121
IDENTIFICATION OF A HOT-SPOT FOR MICRODELETIONS IN PATIENTS WITH X-LINKED DEAFNESS TYPE-3 (DFN3) 900 KB PROXIMAL TO THE DFN3 GENE POU3F4
Authors: DEKOK YJM VOSSENAAR ER CREMERS CWRJ DAHL N LAPORTE J HU LJ LACOMBE D FISCHELGHODSIAN N FRIEDMAN RA PARNES LS THORPE P BITNERGLINDZICZ M PANDER HJ HEILBRONNER H GRAVELINE J DENDUNNEN JT BRUNNER HG ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., IDENTIFICATION OF A HOT-SPOT FOR MICRODELETIONS IN PATIENTS WITH X-LINKED DEAFNESS TYPE-3 (DFN3) 900 KB PROXIMAL TO THE DFN3 GENE POU3F4, Human molecular genetics, 5(9), 1996, pp. 1229-1235
CLONING AND CHARACTERIZATION OF DXS6673E, A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1
Authors: VANDERMAAREL SM SCHOLTEN IHJM HUBER I PHILIPPE C SUIJKERBUIJK RF GILGENKRANTZ S KERE J CREMERS FPM ROPERS HH
Citation: Sm. Vandermaarel et al., CLONING AND CHARACTERIZATION OF DXS6673E, A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1, Human molecular genetics, 5(7), 1996, pp. 887-897
POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-3 - HOMOLOGY WITH THE GUANINE-NUCLEOTIDE-EXCHANGE FACTOR RCC1
Authors: ROEPMAN R VANDUIJNHOVEN G ROSENBERG T PINCKERS AJLG BLEEKERWAGEMAKERS LM BERGEN AAB POST J BECK A REINHARDT R ROPERS HH CREMERS FPM BERGER W
Citation: R. Roepman et al., POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-3 - HOMOLOGY WITH THE GUANINE-NUCLEOTIDE-EXCHANGE FACTOR RCC1, Human molecular genetics, 5(7), 1996, pp. 1035-1041
CDNA CLONING AND CHROMOSOMAL LOCALIZATION OF THE GENES ENCODING THE ALPHA-SUBUNI AND BETA-SUBUNIT OF HUMAN RAB GERANYLGERANYL TRANSFERASE -3'-END OF THE ALPHA-SUBUNIT GENE OVERLAPS WITH THE TRANSGLUTAMINASE-1GENE PROMOTER
Authors: VANBOKHOVEN H RAWSON RB MERKX GFM CREMERS FPM SEABRA MC
Citation: H. Vanbokhoven et al., CDNA CLONING AND CHROMOSOMAL LOCALIZATION OF THE GENES ENCODING THE ALPHA-SUBUNI AND BETA-SUBUNIT OF HUMAN RAB GERANYLGERANYL TRANSFERASE -3'-END OF THE ALPHA-SUBUNIT GENE OVERLAPS WITH THE TRANSGLUTAMINASE-1GENE PROMOTER, Genomics, 38(2), 1996, pp. 133-140
GENETIC FINE MAPPING OF THE GENE FOR RECESSIVE STARGARDT DISEASE
Authors: HOYNG CB POPPELAARS F VANDEPOL TJR KREMER H PINCKERS AJLG DEUTMAN AF CREMERS FPM
Citation: Cb. Hoyng et al., GENETIC FINE MAPPING OF THE GENE FOR RECESSIVE STARGARDT DISEASE, Human genetics, 98(4), 1996, pp. 500-504
GENETIC FINE MAPPING OF THE GENE FOR RECESSIVE STARGARDT DISEASE
Authors: HOYNG CB POPPELAARS F PINCKERS AJLG DEUTMAN AF CREMERS FPM
Citation: Cb. Hoyng et al., GENETIC FINE MAPPING OF THE GENE FOR RECESSIVE STARGARDT DISEASE, Vision research, 36, 1996, pp. 3234-3234
PHENOTYPE VARIATIONS WITHIN A CHOROIDEREMIA FAMILY LACKING THE ENTIRECHM GENE
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S VANBOKHOVEN H CREMERS FPM EHINGER B FEX G
Citation: V. Ponjavic et al., PHENOTYPE VARIATIONS WITHIN A CHOROIDEREMIA FAMILY LACKING THE ENTIRECHM GENE, Ophthalmic genetics, 16(4), 1995, pp. 143-150
YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION
Authors: VANDERMAAREL SM SCHOLTEN IHJM MAATKIEVIT JA HUBER I DEKOK YJM DEWIJS I VANDEPOL TJR VANBOKHOVEN H DENDUNNEN JT VANOMMEN GJB PHILIPPE C MONACO AP SMEETS HJM ROPERS HH CREMERS FPM
Citation: Sm. Vandermaarel et al., YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION, European journal of human genetics, 3(4), 1995, pp. 207-218
A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE
Authors: DEKOK YJM MERKX GFM VANDERMAAREL SM HUBER I MALCOLM S ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE, Human molecular genetics, 4(11), 1995, pp. 2145-2150
A HIGH-RESOLUTION INTERVAL MAP OF THE Q21 REGION OF THE HUMAN X-CHROMOSOME
Authors: PHILIPPE C ARNOULD C SLOAN F VANBOKHOVEN H VANDERVELDEVISSER SD CHERY M ROPERS HH GILGENKRANTZ S MONACO AP CREMERS FPM
Citation: C. Philippe et al., A HIGH-RESOLUTION INTERVAL MAP OF THE Q21 REGION OF THE HUMAN X-CHROMOSOME, Genomics, 27(3), 1995, pp. 539-543
VARIATIONS IN FULL FIELD ELECTRORETINOGRAMS AND PHENOTYPES WITHIN A FAMILY WITH CHOROIDEREMIA AND A COMPLETE DELETION OF THE CHM GENE/
Authors: PONJAVIC V ABRAHAMSON M ANDREASSON S VANBOKHOVEN H CREMERS FPM EHINGER B FEX G
Citation: V. Ponjavic et al., VARIATIONS IN FULL FIELD ELECTRORETINOGRAMS AND PHENOTYPES WITHIN A FAMILY WITH CHOROIDEREMIA AND A COMPLETE DELETION OF THE CHM GENE/, Investigative ophthalmology & visual science, 36(4), 1995, pp. 449-449
ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4
Authors: DEKOK YJM VANDERMAAREL SM BITNERGLINDZICZ M HUBER I MONACO AP MALCOLM S PEMBREY ME ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4, Science, 267(5198), 1995, pp. 685-688
Risultati: 1-25 | 26-45