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Results: 1-25 | 26-42
Results: 1-25/42
A PCR AMPLIFICATION METHOD REVEALS INSTABILITY OF THE DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) AND NO CORRELATION BETWEEN THE SIZE OF THE REPEAT AND AGE AT ONSET
Authors: LALIOTI MD SCOTT HS GENTON P GRID D OUAZZANI R MRABET A IBRAHIM S GOUIDER R DRAVET C CHKILI T BOTTANI A BURESI C MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., A PCR AMPLIFICATION METHOD REVEALS INSTABILITY OF THE DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) AND NO CORRELATION BETWEEN THE SIZE OF THE REPEAT AND AGE AT ONSET, American journal of human genetics, 62(4), 1998, pp. 842-847
IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1
Authors: ANTONARAKIS SE NAGAMINE K PETERSON P ROSATELLI MC LALIOTI MD MULLIS PE BETTERLE C COHEN A SERI M LERONE M ROMEO G CAO A KUDOH J KROHN KJE SHIMIZU N SCOTT HS
Citation: Se. Antonarakis et al., IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1, European journal of human genetics, 6, 1998, pp. 202-202
A GLOBAL COMPARISON OF GENE-EXPRESSION PATTERNS BETWEEN DOWN-SYNDROMEAND NORMAL-CELLS BY SERIAL ANALYSIS OF GENE-EXPRESSION (SAGE)
Authors: SCOTT HS PAPASAVVAS MP ROSSIER C MICHAUD J CHRAST R VELCULESCU VE TOTH Z DAHOUN S BARRAS C BUELL G FEGER G ANTONARAKIS SE
Citation: Hs. Scott et al., A GLOBAL COMPARISON OF GENE-EXPRESSION PATTERNS BETWEEN DOWN-SYNDROMEAND NORMAL-CELLS BY SERIAL ANALYSIS OF GENE-EXPRESSION (SAGE), European journal of human genetics, 6, 1998, pp. 302-302
THE EXPANDED DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) IS UNSTABLE, SHOWS NO CORRELATION WITH AGE-OF-ONSET, AND RESULTS IN REDUCED EXPRESSION OF REPORTER GENES IN-VITRO
Authors: LALIOTI MD SCOTT HS GENTON P GRID D OUAZZANI R MRABET A IBRAHIM S GOUIDER R DRAVET C CHKILI T BOTTANI A BURESI C MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., THE EXPANDED DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) IS UNSTABLE, SHOWS NO CORRELATION WITH AGE-OF-ONSET, AND RESULTS IN REDUCED EXPRESSION OF REPORTER GENES IN-VITRO, European journal of human genetics, 6, 1998, pp. 4166-4166
CLONING OF 2 HUMAN-CHROMOSOME-21 GENES ENCODING A POTENTIAL PHOSPHODIESTERASE AND AN INTERSECTIN HOMOLOG WITH ALTERNATIVE SPLICING IN A STOP CODON
Authors: GUIPPONI M SCOTT HS CHEN HM SCHEBESTA A ROSSIER C ANTONARAKIS SE
Citation: M. Guipponi et al., CLONING OF 2 HUMAN-CHROMOSOME-21 GENES ENCODING A POTENTIAL PHOSPHODIESTERASE AND AN INTERSECTIN HOMOLOG WITH ALTERNATIVE SPLICING IN A STOP CODON, European journal of human genetics, 6, 1998, pp. 4196-4196
OPTIMIZED PROTOCOL FOR LINEARIZATION AND PURIFICATION OF BAC CLONES FOR TG MICE GENERATION
Authors: CHRAST R SCOTT HS ANTONARAKIS SE
Citation: R. Chrast et al., OPTIMIZED PROTOCOL FOR LINEARIZATION AND PURIFICATION OF BAC CLONES FOR TG MICE GENERATION, European journal of human genetics, 6, 1998, pp. 4218-4218
STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY
Authors: MITTAZ L ROESSLER E SCOTT HS ROSSIER C GUIPPONI M ANTONARAKIS SE MUENKE M
Citation: L. Mittaz et al., STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY, European journal of human genetics, 6, 1998, pp. 4246-4246
COMMON MUTATIONS IN AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS ECTODERMAL DYSTROPHY PATIENTS OF DIFFERENT ORIGINS
Authors: SCOTT HS HEINO M PETERSON P MITTAZ L LALIOTI MD BETTERLE C COHEN A SERI M LERONE M ROMEO G COLLIN P SALO M METCALFE R WEETMAN A PAPASAVVAS MP ROSSIER C NAGAMINE K KUDOH J SHIMIZU N KROHN KJE ANTONARAKIS SE
Citation: Hs. Scott et al., COMMON MUTATIONS IN AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS ECTODERMAL DYSTROPHY PATIENTS OF DIFFERENT ORIGINS, Molecular endocrinology, 12(8), 1998, pp. 1112-1119
2 ISOFORMS OF A HUMAN INTERSECTIN (ITSN) PROTEIN ARE PRODUCED BY BRAIN-SPECIFIC ALTERNATIVE SPLICING IN A STOP CODON
Authors: GUIPPONI M SCOTT HS CHEN H SCHEBESTA A ROSSIER C ANTONARAKIS SE
Citation: M. Guipponi et al., 2 ISOFORMS OF A HUMAN INTERSECTIN (ITSN) PROTEIN ARE PRODUCED BY BRAIN-SPECIFIC ALTERNATIVE SPLICING IN A STOP CODON, Genomics (San Diego, Calif.), 53(3), 1998, pp. 369-376
CONSTRUCTION OF A 2.5-MB INTEGRATED PHYSICAL AND GENE MAP OF DISTAL 21Q22.3
Authors: LAPENTA V SOSSI V GOSSET P VAYSSETTES C VITALI T RABATEL N TASSONE F BLOUIN JL SCOTT HS ANTONARAKIS SE CREAU N BRAHE C
Citation: V. Lapenta et al., CONSTRUCTION OF A 2.5-MB INTEGRATED PHYSICAL AND GENE MAP OF DISTAL 21Q22.3, Genomics, 49(1), 1998, pp. 1-13
IDENTIFICATION AND CHARACTERIZATION OF 2 PUTATIVE HUMAN ARGININE METHYLTRANSFERASES (HRMT1L1 AND HRMT1L2)
Authors: SCOTT HS ANTONARAKIS SE LALIOTI MD ROSSIER C SILVER PA HENRY MF
Citation: Hs. Scott et al., IDENTIFICATION AND CHARACTERIZATION OF 2 PUTATIVE HUMAN ARGININE METHYLTRANSFERASES (HRMT1L1 AND HRMT1L2), Genomics, 48(3), 1998, pp. 330-340
CHARACTERIZATION OF A NOVEL GENE, C21ORF2, AN HUMAN-CHROMOSOME 21Q22.3 AND ITS EXCLUSION AS THE APECED GENE BY MUTATION ANALYSIS
Authors: SCOTT HS KYRIAKOU DS PETERSON P HEINO M TAHTINEN M KROHN K CHEN HM ROSSIER C LALIOTI MD ANTONARAKIS SE
Citation: Hs. Scott et al., CHARACTERIZATION OF A NOVEL GENE, C21ORF2, AN HUMAN-CHROMOSOME 21Q22.3 AND ITS EXCLUSION AS THE APECED GENE BY MUTATION ANALYSIS, Genomics, 47(1), 1998, pp. 64-70
POSITIONAL CLONING OF THE APECED GENE
Authors: NAGAMINE K PETERSON P SCOTT HS KUDOH J MINOSHIMA S HEINO M KROHN KJE LALIOTI MD MULLIS PE ANTONARAKIS SE KAWASAKI K ASAKAWA S ITO F SHIMIZU N
Citation: K. Nagamine et al., POSITIONAL CLONING OF THE APECED GENE, Nature genetics, 17(4), 1997, pp. 393-398
WHAT IS EXPANDED IN PROGRESSIVE MYOCLONUS EPILEPSY
Authors: LALIOTI MD SCOTT HS ANTONARAKIS SE
Citation: Md. Lalioti et al., WHAT IS EXPANDED IN PROGRESSIVE MYOCLONUS EPILEPSY, Nature genetics, 17(1), 1997, pp. 17-17
CLONING OF 2 HUMAN HOMOLOGS OF THE DROSOPHILA SINGLE-MINDED GENE SIM1ON CHROMOSOME 6Q AND SIM2 ON 21Q WITHIN THE DOWN-SYNDROME CHROMOSOMALREGION
Authors: CHRAST R SCOTT HS CHEN HM KUDOH J ROSSIER C MINOSHIMA S WANG YM SHIMIZU N ANTONARAKIS SE
Citation: R. Chrast et al., CLONING OF 2 HUMAN HOMOLOGS OF THE DROSOPHILA SINGLE-MINDED GENE SIM1ON CHROMOSOME 6Q AND SIM2 ON 21Q WITHIN THE DOWN-SYNDROME CHROMOSOMALREGION, PCR methods and applications, 7(6), 1997, pp. 615-624
MOLECULAR DEFECTS IN SANFILIPPO-SYNDROME TYPE-A
Authors: BLANCH L WEBER B GUO XH SCOTT HS HOPWOOD JJ
Citation: L. Blanch et al., MOLECULAR DEFECTS IN SANFILIPPO-SYNDROME TYPE-A, Human molecular genetics, 6(5), 1997, pp. 787-791
CLONING OF A HUMAN RNA EDITING DEAMINASE (ADARB1) OF GLUTAMATE RECEPTORS THAT MAPS TO CHROMOSOME 21Q22.3
Authors: MITTAZ L SCOTT HS ROSSIER C SEEBURG PH HIGUCHI M ANTONARAKIS SE
Citation: L. Mittaz et al., CLONING OF A HUMAN RNA EDITING DEAMINASE (ADARB1) OF GLUTAMATE RECEPTORS THAT MAPS TO CHROMOSOME 21Q22.3, Genomics, 41(2), 1997, pp. 210-217
ISOLATION OF A HUMAN GENE (HES1) WITH HOMOLOGY TO AN ESCHERICHIA-COLIAND A ZEBRAFISH PROTEIN THAT MAPS TO CHROMOSOME 21Q122.3
Authors: SCOTT HS CHEN HM ROSSIER C LALIOTI MD ANTONARAKIS SE
Citation: Hs. Scott et al., ISOLATION OF A HUMAN GENE (HES1) WITH HOMOLOGY TO AN ESCHERICHIA-COLIAND A ZEBRAFISH PROTEIN THAT MAPS TO CHROMOSOME 21Q122.3, Human genetics, 99(5), 1997, pp. 616-623
LOCALIZATION OF A NOVEL HUMAN RNA-EDITING DEAMINASE (HRED2, OR ADARB2) TO CHROMOSOME 10P15
Authors: MITTAZ L ANTONARAKIS SE HIGUCHI M SCOTT HS
Citation: L. Mittaz et al., LOCALIZATION OF A NOVEL HUMAN RNA-EDITING DEAMINASE (HRED2, OR ADARB2) TO CHROMOSOME 10P15, Human genetics, 100(3-4), 1997, pp. 398-400
CONSTRUCTION OF A DENSE EXON MAP (1 IN EVERY 14 KB) OF THE CBR TO ERGSIMILAR-TO-2.5-MB REGION OF CHROMOSOME-21
Authors: BLOUIN JL CHEN HM SAIL GD ROSSIER C SCOTT HS ANTONARAKIS SE RUTTER M BLAZEJEWSKI L SHEA D LUCENTE D MCCORMICK MK
Citation: Jl. Blouin et al., CONSTRUCTION OF A DENSE EXON MAP (1 IN EVERY 14 KB) OF THE CBR TO ERGSIMILAR-TO-2.5-MB REGION OF CHROMOSOME-21, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 40-40
PROGRESS TOWARD THE TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21 AND INITIAL CHARACTERIZATION OF SEVERAL OF ITS GENES
Authors: ANTONARAKIS SE CHEN HM LALIOTI MD SCOTT HS CHRAST R BLOUIN JL MITTAZ L GUIDI S PAOLINIGIACOBINO A ROSSIER C
Citation: Se. Antonarakis et al., PROGRESS TOWARD THE TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21 AND INITIAL CHARACTERIZATION OF SEVERAL OF ITS GENES, Cytogenetics and cell genetics, 77, 1997, pp. 12-12
MUTATIONS AMONG ITALIAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS
Authors: GATTI R DINATALE P VILLANI GRD FILOCAMO M MULLER V GUO XH NELSON PV SCOTT HS HOPWOOD JJ
Citation: R. Gatti et al., MUTATIONS AMONG ITALIAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS, Journal of inherited metabolic disease, 20(6), 1997, pp. 803-806
DODECAMER REPEAT EXPANSION IN CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY
Authors: LALIOTI MD SCOTT HS BURESI C ROSSIER C BOTTANI A MORRIS MA MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., DODECAMER REPEAT EXPANSION IN CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY, Nature, 386(6627), 1997, pp. 847-851
A GLOBAL COMPARISON OF GENE-EXPRESSION PATTERNS BETWEEN DOWN-SYNDROMEAND NORMAL-CELLS BY SERIAL ANALYSIS OF GENE-EXPRESSION
Authors: SCOTT HS PAPASAVVAS MP VELCULESCU VE TOTH Z DAHOUN S ROSSIER C ANTONARAKIS SE
Citation: Hs. Scott et al., A GLOBAL COMPARISON OF GENE-EXPRESSION PATTERNS BETWEEN DOWN-SYNDROMEAND NORMAL-CELLS BY SERIAL ANALYSIS OF GENE-EXPRESSION, American journal of human genetics, 61(4), 1997, pp. 207-207
DODECAMER REPEAT EXPANSION IN THE CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1)
Authors: LALIOTI MD SCOTT HS BURESI C ROSSIER C BOTTANI A MORRIS MA MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., DODECAMER REPEAT EXPANSION IN THE CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), American journal of human genetics, 61(4), 1997, pp. 272-272
Risultati: 1-25 | 26-42