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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
MOLECULAR-GENETICS OF COAGULATION-FACTOR-VIII GENE AND HEMOPHILIA-A
Authors: ANTONARAKIS SE
Citation: Se. Antonarakis, MOLECULAR-GENETICS OF COAGULATION-FACTOR-VIII GENE AND HEMOPHILIA-A, Haemophilia, 4, 1998, pp. 1-11
SCHIZOPHRENIA SUSCEPTIBILITY LOCI ON CHROMOSOMES 13Q32 AND 8P21
Authors: BLOUIN JL DOMBROSKI BA NATH SK LASSETER VK WOLYNIEC PS NESTADT G THORNQUIST M ULLRICH G MCGRATH J KASCH L LAMACZ M THOMAS MG GEHRIG C RADHAKRISHNA U SNYDER SE BALK KG NEUFELD K SWARTZ KL DEMARCHI N PAPADIMITRIOU GN DIKEOS DG STEFANIS CN CHAKRAVARTI A CHILDS B HOUSMAN DE KAZAZIAN HH ANTONARAKIS SE PULVER AE
Citation: Jl. Blouin et al., SCHIZOPHRENIA SUSCEPTIBILITY LOCI ON CHROMOSOMES 13Q32 AND 8P21, Nature genetics, 20(1), 1998, pp. 70-73
MIND THE GAP, RHO, RAB AND GDI
Authors: ANTONARAKIS SE VANAELST L
Citation: Se. Antonarakis et L. Vanaelst, MIND THE GAP, RHO, RAB AND GDI, Nature genetics, 19(2), 1998, pp. 106-108
GENE STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN P2X(7) RECEPTOR
Authors: BUELL GN TALABOT F GOS A LORENZ J LAI E MORRIS MA ANTONARAKIS SE
Citation: Gn. Buell et al., GENE STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN P2X(7) RECEPTOR, Receptors & channels, 5(6), 1998, pp. 347
INDEPENDENT OCCURRENCE OF THE NOVEL ARG(2163) TO HIS MUTATION IN THE FACTOR-VIII GENE IN 3 UNRELATED FAMILIES WITH HEMOPHILIA-A WITH DIFFERENT PHENOTYPES
Authors: THEOPHILUS BDM ENAYAT MS HIGUCHI M KAZAZIAN HH ANTONARAKIS SE HILL FGH
Citation: Bdm. Theophilus et al., INDEPENDENT OCCURRENCE OF THE NOVEL ARG(2163) TO HIS MUTATION IN THE FACTOR-VIII GENE IN 3 UNRELATED FAMILIES WITH HEMOPHILIA-A WITH DIFFERENT PHENOTYPES, Human mutation, 11(4), 1998, pp. 334-334
RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS
Authors: ANTONARAKIS SE
Citation: Se. Antonarakis, RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS, Human mutation, 11(1), 1998, pp. 1-3
RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS
Authors: ANTONARAKIS SE
Citation: Se. Antonarakis, RECOMMENDATIONS FOR A NOMENCLATURE SYSTEM FOR HUMAN GENE-MUTATIONS, Human mutation, 11(1), 1998, pp. 1-3
INCREASED LEVELS OF A CHROMOSOME 21-ENCODED TUMOR INVASION AND METASTASIS FACTOR (TIAM1) MESSENGER-RNA IN BONE-MARROW OF DOWN-SYNDROME CHILDREN DURING THE ACUTE-PHASE OF AML(M7)
Authors: IVES JH DAGNABRICARELLI F BASSO G ANTONARAKIS SE JEE R COTTER F NIZETIC D
Citation: Jh. Ives et al., INCREASED LEVELS OF A CHROMOSOME 21-ENCODED TUMOR INVASION AND METASTASIS FACTOR (TIAM1) MESSENGER-RNA IN BONE-MARROW OF DOWN-SYNDROME CHILDREN DURING THE ACUTE-PHASE OF AML(M7), Genes, chromosomes & cancer, 23(1), 1998, pp. 61-66
MUTATION ANALYSIS OF THE ERGIC53 GENE IN 39 FAMILIES WITH COMBINED DEFICIENCY OF COAGULATION-FACTOR-V AND COAGULATION-FACTOR-VIII (F5F8D)
Authors: NEERMANARBEZ M MORRIS MA NICHOLS WC GINSBURG D TUDDENHAM EGD ANTONARAKIS SE
Citation: M. Neermanarbez et al., MUTATION ANALYSIS OF THE ERGIC53 GENE IN 39 FAMILIES WITH COMBINED DEFICIENCY OF COAGULATION-FACTOR-V AND COAGULATION-FACTOR-VIII (F5F8D), European journal of human genetics, 6, 1998, pp. 201-201
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 POTENTIAL SCHIZOPHRENIA SUSCEPTIBILITY LOCUS ON CHROMOSOME 13Q
Authors: BLOUIN JL WOLYNIEC P NATH S LASSETER VK GEHRIG C RADHAKRISHNA U KAZAZIAN HH DOMBROSKI B HOUSMAN D WOLYNIEC P NESTADT G CHAKRAVARTI A PULVER AE ANTONARAKIS SE
Citation: Jl. Blouin et al., A POTENTIAL SCHIZOPHRENIA SUSCEPTIBILITY LOCUS ON CHROMOSOME 13Q, European journal of human genetics, 6, 1998, pp. 203-203
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 GENE FOR ONE FORM OF AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY TYPE-B (PAP-B) MAPS TO CHROMOSOME 7P13
Authors: UPPALA R BLOUIN JL SOLANKI JV ANTONARAKIS SE
Citation: R. Uppala et al., THE GENE FOR ONE FORM OF AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY TYPE-B (PAP-B) MAPS TO CHROMOSOME 7P13, European journal of human genetics, 6, 1998, pp. 405-405
A FAMILY WITH AUTOSOMAL-DOMINANT POLYPOSIS-COLI AND COWDEN-DISEASE UNLINKED TO THE APC, PTEN, AND HMPS LOCI
Authors: MEHENNI H CHERGUI R BLOUIN JL ANTONARAKIS SE MORRIS MA
Citation: H. Mehenni et al., A FAMILY WITH AUTOSOMAL-DOMINANT POLYPOSIS-COLI AND COWDEN-DISEASE UNLINKED TO THE APC, PTEN, AND HMPS LOCI, European journal of human genetics, 6, 1998, pp. 1132-1132
MOLECULAR, CYTOGENETIC AND FISH ANALYSIS OF A TANDEM TRANSLOCATION OFCHROMOSOME-21 T(21-21) (Q22.3-Q22.3) IN A MILDLY-AFFECTED PATIENT WITH DOWN-SYNDROME
Authors: FRENNY S RADHAKRISHNA U BLOUIN JL MORRIS MA GOS A SHETH JJ HYDRABADI V MULTANI AS ANTONARAKIS SE
Citation: S. Frenny et al., MOLECULAR, CYTOGENETIC AND FISH ANALYSIS OF A TANDEM TRANSLOCATION OFCHROMOSOME-21 T(21-21) (Q22.3-Q22.3) IN A MILDLY-AFFECTED PATIENT WITH DOWN-SYNDROME, European journal of human genetics, 6, 1998, pp. 2065-2065
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
ISOLATION OF THE HUMAN BACH1 TRANSCRIPTION REGULATOR GENE, WHICH MAPSTO CHROMOSOME 21Q22.1
Authors: BLOUIN JL ANTONARAKIS SE SAIL GD GUIPPONI M ROSSIER C PAPPASAVAS MP ANTONARAKIS SE
Citation: Jl. Blouin et al., ISOLATION OF THE HUMAN BACH1 TRANSCRIPTION REGULATOR GENE, WHICH MAPSTO CHROMOSOME 21Q22.1, European journal of human genetics, 6, 1998, pp. 4224-4224
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
10 YEARS OF GENOMICS, CHROMOSOME-21, AND DOWN-SYNDROME
Authors: ANTONARAKIS SE
Citation: Se. Antonarakis, 10 YEARS OF GENOMICS, CHROMOSOME-21, AND DOWN-SYNDROME, Genomics (San Diego, Calif.), 51(1), 1998, pp. 1-16
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
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