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Results: 1-25 |
Results: 25
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
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
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
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
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
CHARACTERIZATION OF CHROMOSOME-21 GENES - PROGRESS REPORT
Authors: ANTONARAKIS SE CHEN HM LALIOTI MD BLOUIN JL CHRAST R PAOLONIGIACOBINO A ROSSIER C SCOTT H YOUNG M
Citation: Se. Antonarakis et al., CHARACTERIZATION OF CHROMOSOME-21 GENES - PROGRESS REPORT, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 40-40
PROGRESS TOWARD THE TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21
Authors: CHEN HM LALIOTI MD BLOUIN JL CHRAST R PAOLONIGIACOBINO A ROSSIER C ANTONARAKIS SE
Citation: Hm. Chen et al., PROGRESS TOWARD THE TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 40-41
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
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
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
IDENTIFICATION OF MUTATIONS IN CYSTATIN B, THE GENE RESPONSIBLE FOR THE UNVERRICHT-LUNDBORG TYPE OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1)
Authors: LALIOTI MD MIROTSOU M BURESI C PEITSCH MC ROSSIER C OUAZZANI R BALDYMOULINIER M BOTTANI A MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., IDENTIFICATION OF MUTATIONS IN CYSTATIN B, THE GENE RESPONSIBLE FOR THE UNVERRICHT-LUNDBORG TYPE OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), American journal of human genetics, 60(2), 1997, pp. 342-351
CLONING OF 559 POTENTIAL EXONS OF GENES OF HUMAN-CHROMOSOME-21 BY EXON TRAPPING
Authors: CHEN H CHRAST R ROSSIER C MORRIS MA LALIOTI MD ANTONARAKIS SE
Citation: H. Chen et al., CLONING OF 559 POTENTIAL EXONS OF GENES OF HUMAN-CHROMOSOME-21 BY EXON TRAPPING, PCR methods and applications, 6(8), 1996, pp. 747-760
CLONING THE CDNA OF HUMAN PWP2 WHICH ENCODES A PROTEIN WITH WD REPEATS AND MAPS TO 21Q22.3
Authors: LALIOTI MD CHEN HM ROSSIER C SHAFAATIAN R REID JD ANTONARAKIS SE
Citation: Md. Lalioti et al., CLONING THE CDNA OF HUMAN PWP2 WHICH ENCODES A PROTEIN WITH WD REPEATS AND MAPS TO 21Q22.3, Genomics, 35(2), 1996, pp. 321-327
THE GENE FOR HUMAN U2 SNRNP AUXILIARY FACTOR SMALL 35-KDA SUBUNIT (U2AF1) MAPS TO THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) CRITICAL REGIONON CHROMOSOME 21Q22.3
Authors: LALIOTI MD GOS A GREEN MR ROSSIER C MORRIS MA ANTONARAKIS SE
Citation: Md. Lalioti et al., THE GENE FOR HUMAN U2 SNRNP AUXILIARY FACTOR SMALL 35-KDA SUBUNIT (U2AF1) MAPS TO THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) CRITICAL REGIONON CHROMOSOME 21Q22.3, Genomics, 33(2), 1996, pp. 298-300
THE HUMAN LANOSTEROL SYNTHASE GENE MAPS TO CHROMOSOME 21Q22.3
Authors: YOUNG M CHEN HM LALIOTI MD ANTONARAKIS SE
Citation: M. Young et al., THE HUMAN LANOSTEROL SYNTHASE GENE MAPS TO CHROMOSOME 21Q22.3, Human genetics, 97(5), 1996, pp. 620-624
CLONING OF THE CDNA FOR A HUMAN HOMOLOG OF THE DROSOPHILA WHITE GENE AND MAPPING TO CHROMOSOME 21Q22.3
Authors: CHEN HM ROSSIER C LALIOTI MD LYNN A CHAKRAVARTI A PERRIN G ANTONARAKIS SE
Citation: Hm. Chen et al., CLONING OF THE CDNA FOR A HUMAN HOMOLOG OF THE DROSOPHILA WHITE GENE AND MAPPING TO CHROMOSOME 21Q22.3, American journal of human genetics, 59(1), 1996, pp. 66-75
EVALUATION OF THE EXON TRAPPING METHOD USING A PFKL CONTAINING COSMID
Authors: LALIOTI MD ANTONARAKIS SE
Citation: Md. Lalioti et Se. Antonarakis, EVALUATION OF THE EXON TRAPPING METHOD USING A PFKL CONTAINING COSMID, Cytogenetics and cell genetics, 70(3-4), 1995, pp. 178-179
TOWARDS A TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21 - IDENTIFICATION OF GENE PORTIONS BY EXON TRAPPING
Authors: CHEN HM CHRAST R LALIOTI MD SAMEC SN ROSSIER C BLOUIN JL MORRIS MA GOS A ANTONARAKIS SE
Citation: Hm. Chen et al., TOWARDS A TRANSCRIPTION MAP OF HUMAN-CHROMOSOME-21 - IDENTIFICATION OF GENE PORTIONS BY EXON TRAPPING, Cytogenetics and cell genetics, 70(3-4), 1995, pp. 179-179
CLONING OF PORTIONS OF APPROXIMATELY 40-PERCENT OF THE GENES ON HUMAN-CHROMOSOME-21 (HC21) BY EXON TRAPPING
Authors: CHEN HM CHRAST R ROSSIER C LALIOTI MD ANTONARAKIS SE
Citation: Hm. Chen et al., CLONING OF PORTIONS OF APPROXIMATELY 40-PERCENT OF THE GENES ON HUMAN-CHROMOSOME-21 (HC21) BY EXON TRAPPING, American journal of human genetics, 57(4), 1995, pp. 803-803
CLONING OF THE GENE FOR HUMAN LANOSTEROL SYNTHASE AND MAPPING TO CHROMOSOME 21Q22.3
Authors: BELLIDO MY CHEN HM LALIOTI MD ANTONARAKIS SE
Citation: My. Bellido et al., CLONING OF THE GENE FOR HUMAN LANOSTEROL SYNTHASE AND MAPPING TO CHROMOSOME 21Q22.3, American journal of human genetics, 57(4), 1995, pp. 879-879
PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) - IDENTIFICATION OF A LARGE SWISS FAMILY AND PROGRESS TOWARDS THE TRANSCRIPTION MAP OF 21Q22.3
Authors: LALIOTI MD BOTTANI A MORRIS MA IOANNOU P GINGRICH JC ANTONARAKIS SE
Citation: Md. Lalioti et al., PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) - IDENTIFICATION OF A LARGE SWISS FAMILY AND PROGRESS TOWARDS THE TRANSCRIPTION MAP OF 21Q22.3, American journal of human genetics, 57(4), 1995, pp. 1523-1523
Risultati: 1-25 |