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Results: 1-24 |
Results: 24
POSITIONAL CLONING OF THE GENE FOR NIJMEGEN BREAKAGE SYNDROME
Authors: MATSUURA S TAUCHI H NAKAMURA A KONDO N SAKAMOTO S ENDO S SMEETS D SOLDER B BELOHRADSKY BH KALOUSTIAN VMD OSHIMURA M ISOMURA M NAKAMURA Y KOMATSU K
Citation: S. Matsuura et al., POSITIONAL CLONING OF THE GENE FOR NIJMEGEN BREAKAGE SYNDROME, Nature genetics, 19(2), 1998, pp. 179-181
IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL
Authors: GILAD S KHOSRAVI R HARNIK R ZIV Y SHKEDY D GALANTY Y FRYDMAN M LEVI J SANAL O CHESSA L SMEETS D SHILOH Y BARSHIRA A
Citation: S. Gilad et al., IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL, Human mutation, 11(1), 1998, pp. 69-75
IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL
Authors: GILAD S KHOSRAVI R HARNIK R ZIV Y SHKEDY D GALANTY Y FRYDMAN M LEVI J SANAL O CHESSA L SMEETS D SHILOH Y BARSHIRA A
Citation: S. Gilad et al., IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL, Human mutation, 11(1), 1998, pp. 69-75
INTERSTITIAL DELETION OF CHROMOSOME-21 RESULTING FROM SEGREGATION OF A PATERNAL BALANCED INTRACHROMOSOMAL INSERTION - CYTOGENETIC AND FISH ANALYSIS
Authors: CARVALHAS R CORREIA H LANCA A SMEETS D CARREIRO M CASTEDO S CHAVES J
Citation: R. Carvalhas et al., INTERSTITIAL DELETION OF CHROMOSOME-21 RESULTING FROM SEGREGATION OF A PATERNAL BALANCED INTRACHROMOSOMAL INSERTION - CYTOGENETIC AND FISH ANALYSIS, European journal of human genetics, 6, 1998, pp. 2018-2018
LOCALIZATION OF ICF SYNDROME BY HOMOZYGOSITY MAPPING
Authors: WIJMENGA C VANDENHEUVEL L STRENGMAN E LUYTEN J VANDERBURGT I DEGROOT R SMEETS D VANDONGEN J PEARSON P SANDKUIJL L WEEMAES C
Citation: C. Wijmenga et al., LOCALIZATION OF ICF SYNDROME BY HOMOZYGOSITY MAPPING, Molecular immunology, 35(11-12), 1998, pp. 719-719
A FAMILIAL CASE OF RENAL-CELL CARCINOMA AND A T(2-3) CHROMOSOME-TRANSLOCATION
Authors: KOOLEN MI VANDERMEYDEN PM BODMER D ELEVELD M VANDERLOOIJ E BRUNNER H SMITS A VANDENBERG E SMEETS D VANKESSEL AG
Citation: Mi. Koolen et al., A FAMILIAL CASE OF RENAL-CELL CARCINOMA AND A T(2-3) CHROMOSOME-TRANSLOCATION, Kidney international, 53(2), 1998, pp. 273-275
RADIATION INDUCTION OF P53 IN CELLS FROM NIJMEGEN BREAKAGE SYNDROME IS DEFECTIVE BUT NOT SIMILAR TO ATAXIA-TELANGIECTASIA
Authors: MATSUURA K BALMUKHANOV T TAUCHI H WEEMAES C SMEETS D CHRZANOWSKA K ENDOU S MATSUURA S KOMATSU K
Citation: K. Matsuura et al., RADIATION INDUCTION OF P53 IN CELLS FROM NIJMEGEN BREAKAGE SYNDROME IS DEFECTIVE BUT NOT SIMILAR TO ATAXIA-TELANGIECTASIA, Biochemical and biophysical research communications, 242(3), 1998, pp. 602-607
FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE
Authors: CEROSALETTI KM LANGE E STRINGHAM HM WEEMAES CMR SMEETS D SOLDER B BELOHRADSKY BH TAYLOR AMR KARNES P ELLIOTT A KOMATSU K GATTI RA BOEHNKE M CONCANNON P
Citation: Km. Cerosaletti et al., FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE, American journal of human genetics, 63(1), 1998, pp. 125-134
QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/
Authors: KROISEL PM FRYNS JP MATTHIJS G BRONDUMNIELSEN K VEJERSLEV L VONKOSKULL H GIRAUDON E SAURA R HELD K MULLERREIBLE CR METAXOTOU C GENUARDI M PIOMBO G SCHNEIDER F SMEETS D VANDENOUWELAND A PACHECO P CORREIA H BINKERT F GABARRON J GALLANO P KRISTOFFERSSON U ANVRET M HOWELL R STENHOUSE S
Citation: Pm. Kroisel et al., QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/, European journal of human genetics, 5(6), 1997, pp. 342-350
WOLF-HIRSCHHORN SYNDROME OF PARENTAL ORIGIN IN PRENATAL-DIAGNOSIS
Authors: LEITE RP SMEETS D PORTUGAL A SANTOS L PINTO M
Citation: Rp. Leite et al., WOLF-HIRSCHHORN SYNDROME OF PARENTAL ORIGIN IN PRENATAL-DIAGNOSIS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 177-177
NIJMEGEN BREAKAGE SYNDROME CELLS FAIL TO INDUCE THE P53-MEDIATED DNA-DAMAGE RESPONSE FOLLOWING EXPOSURE TO IONIZING-RADIATION
Authors: WIM JM VUILLAUME M CHRZANOWSKA K SMEETS D SPERLING K HALL J
Citation: Jm. Wim et al., NIJMEGEN BREAKAGE SYNDROME CELLS FAIL TO INDUCE THE P53-MEDIATED DNA-DAMAGE RESPONSE FOLLOWING EXPOSURE TO IONIZING-RADIATION, Molecular and cellular biology, 17(9), 1997, pp. 5016-5022
AT LEAST 9 CASES OF TRISOMY 11Q23-]QTER IN ONE GENERATION AS A RESULTOF FAMILIAL T(11-13) TRANSLOCATION
Authors: SMEETS D VANRAVENSWAAIJ C DEPATER J GERSSENSCHOORL K VANHEMEL J JANSSEN G SMITS A
Citation: D. Smeets et al., AT LEAST 9 CASES OF TRISOMY 11Q23-]QTER IN ONE GENERATION AS A RESULTOF FAMILIAL T(11-13) TRANSLOCATION, Journal of Medical Genetics, 34(1), 1997, pp. 18-23
GENETIC-MAPPING USING MICROCELL-MEDIATED CHROMOSOME TRANSFER SUGGESTSA LOCUS FOR NIJMEGEN BREAKAGE SYNDROME AT CHROMOSOME 8Q21-24
Authors: MATSUURA S WEEMAES C SMEETS D TAKAMI H KONDO N SAKAMOTO S YANO N NAKAMURA A TAUCHI H ENDO S OSHIMURA M KOMATSU K
Citation: S. Matsuura et al., GENETIC-MAPPING USING MICROCELL-MEDIATED CHROMOSOME TRANSFER SUGGESTSA LOCUS FOR NIJMEGEN BREAKAGE SYNDROME AT CHROMOSOME 8Q21-24, American journal of human genetics, 60(6), 1997, pp. 1487-1494
ANESTHESIOLOGICAL PROBLEMS IN WILLIAMS-SYNDROME - THE CACNL2A LOCUS IS NOT INVOLVED
Authors: MAMMI I ILES DE SMEETS D CLEMENTI M TENCONI R
Citation: I. Mammi et al., ANESTHESIOLOGICAL PROBLEMS IN WILLIAMS-SYNDROME - THE CACNL2A LOCUS IS NOT INVOLVED, Human genetics, 98(3), 1996, pp. 317-320
NIJMEGEN BREAKAGE SYNDROME
Authors: VANDERBURGT I CHRZANOWSKA KH SMEETS D WEEMAES C
Citation: I. Vanderburgt et al., NIJMEGEN BREAKAGE SYNDROME, Journal of Medical Genetics, 33(2), 1996, pp. 153-156
ANOTHER PATIENT WITH A DELETION 14Q11.2Q13
Authors: GOVAERTS L TOORMAN J BLUPHILIPSEN MVD SMEETS D
Citation: L. Govaerts et al., ANOTHER PATIENT WITH A DELETION 14Q11.2Q13, Annales de genetique, 39(4), 1996, pp. 197-200
THE GENE FOR NIJMEGEN BREAKAGE SYNDROME (V2) IS NOT LOCATED ON CHROMOSOME-11
Authors: KOMATSU K MATSUURA S TAUCHI H ENDO S KODAMA S SMEETS D WEEMAES C OSHIMURA M
Citation: K. Komatsu et al., THE GENE FOR NIJMEGEN BREAKAGE SYNDROME (V2) IS NOT LOCATED ON CHROMOSOME-11, American journal of human genetics, 58(4), 1996, pp. 885-888
COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .1. OCCURRENCE OF GENOMIC IMBALANCES AND IDENTIFICATION OF A NOVEL MAJOR AMPLICON AT 1Q21-Q22 IN SOFT-TISSUE SARCOMAS
Authors: FORUS A WEGHUIS DO SMEETS D FODSTAD O MYKLEBOST O VANKESSEL AG
Citation: A. Forus et al., COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .1. OCCURRENCE OF GENOMIC IMBALANCES AND IDENTIFICATION OF A NOVEL MAJOR AMPLICON AT 1Q21-Q22 IN SOFT-TISSUE SARCOMAS, Genes, chromosomes & cancer, 14(1), 1995, pp. 8-14
COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .2. IDENTIFICATION OF NOVEL AMPLICONS AT 6P AND 17P IN OSTEOSARCOMAS
Authors: FORUS A WEGHUIS DO SMEETS D FODSTAD O MYKLEBOST O VANKESSEL AG
Citation: A. Forus et al., COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .2. IDENTIFICATION OF NOVEL AMPLICONS AT 6P AND 17P IN OSTEOSARCOMAS, Genes, chromosomes & cancer, 14(1), 1995, pp. 15-21
NONSPECIFIC X-LINKED MENTAL-RETARDATION - IDENTIFICATION OF SEPARATE SUBTYPES BY LINKAGE STUDIES AND DETAILED CLINICAL INVESTIGATION
Authors: SMITS A MARIMAN E VANDENHELM B KNOERSVANSLOBBE N SMEETS D KREMER H VANDERMAAREL S HAMEL B ROPERS HH
Citation: A. Smits et al., NONSPECIFIC X-LINKED MENTAL-RETARDATION - IDENTIFICATION OF SEPARATE SUBTYPES BY LINKAGE STUDIES AND DETAILED CLINICAL INVESTIGATION, Cytogenetics and cell genetics, 67(4), 1994, pp. 350-350
PREDICTION OF MENTAL STATUS IN CARRIERS OF THE FRAGILE-X MUTATION USING CGG REPEAT LENGTH
Authors: SMITS A SMEETS D HAMEL B DREESEN J DEHAAN A VANOOST B
Citation: A. Smits et al., PREDICTION OF MENTAL STATUS IN CARRIERS OF THE FRAGILE-X MUTATION USING CGG REPEAT LENGTH, American journal of medical genetics, 51(4), 1994, pp. 497-500
ICF SYNDROME
Authors: WEEMAES C SMEETS D BAKKEREN J VANDERBURGT I
Citation: C. Weemaes et al., ICF SYNDROME, Pediatric research, 36(1), 1994, pp. 10000065-10000065
NO IMPRINTING INVOLVED IN THE EXPRESSION OF DM-KINASE MESSENGER-RNAS IN MOUSE AND HUMAN TISSUES
Authors: JANSEN G BARTOLOMEI M KALSCHEUER V MERKX G WORMSKAMP N MARIMAN E SMEETS D ROPERS HH WIERINGA B
Citation: G. Jansen et al., NO IMPRINTING INVOLVED IN THE EXPRESSION OF DM-KINASE MESSENGER-RNAS IN MOUSE AND HUMAN TISSUES, Human molecular genetics, 2(8), 1993, pp. 1221-1227
ICF SYNDROME STUDIED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: SMEETS D HAMERS A VANDERBURGT I ELSEVIER D VANGAAL J MERKX G NIEHOFF J VAESPEETERS G WIENEN I WEEMAES C
Citation: D. Smeets et al., ICF SYNDROME STUDIED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 53(3), 1993, pp. 220-220
Risultati: 1-24 |