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Results: 26-50/176
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
TRANSCRIPTIONAL MAP OF THE 2.5-MB CBR-ERG REGION OF CHROMOSOME-21 INVOLVED IN DOWN-SYNDROME
Authors: DAHMANE N GHEZALA GA GOSSET P CHAMOUN Z DUFRESNEZACHARIA MC LOPES C RABATEL N GASSANOVAMAUGENRE S CHETTOUH Z ABRAMOWSKI V FAYET E YASPO ML KORN B BLOUIN JL LEHRACH H POUTSKA A ANTONARAKIS SE SINET PM CREAU N DELABAR JM
Citation: N. Dahmane et al., TRANSCRIPTIONAL MAP OF THE 2.5-MB CBR-ERG REGION OF CHROMOSOME-21 INVOLVED IN DOWN-SYNDROME, Genomics, 48(1), 1998, pp. 12-23
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
ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY
Authors: VARGAS FR ROESSLER E GAUDENZ K BELLONI E WHITEHEAD AS KIRKE PN MILLS JL HOOPER G STEVENSON RE CORDEIRO I CORREIA P FELIX T GEREIGE R CUNNINGHAM ML CANUN S ANTONARAKIS SE STRACHAN T TSUI LC SCHERER SW MUENKE M
Citation: Fr. Vargas et al., ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY, Human genetics, 102(4), 1998, pp. 387-392
ISOLATION OF THE HUMAN BACH1 TRANSCRIPTION REGULATOR GENE, WHICH MAPSTO CHROMOSOME 21Q22.1
Authors: BLOUIN JL 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, Human genetics, 102(3), 1998, pp. 282-288
APECED - A MONOGENIC AUTOIMMUNE-DISEASE PROVIDING NEW CLUES TO SELF-TOLERANCE
Authors: PETERSON P NAGAMINE K SCOTT H HEINO M KUDOH J SHIMIZU N ANTONARAKIS SE KROHN KJE
Citation: P. Peterson et al., APECED - A MONOGENIC AUTOIMMUNE-DISEASE PROVIDING NEW CLUES TO SELF-TOLERANCE, Immunology today, 19(9), 1998, pp. 384-386
CARNEY-COMPLEX, PEUTZ-JEGHERS-SYNDROME, COWDEN-DISEASE, AND BANNAYAN-ZONANA-SYNDROME SHARE CUTANEOUS AND ENDOCRINE MANIFESTATIONS, BUT NOT GENETIC-LOCI
Authors: STRATAKIS CA KIRSCHNER LS TAYMANS SE TOMLINSON IPM MARSH DJ TORPY DJ GIATZAKIS C ECCLES DM THEAKER J HOULSTON RS BLOUIN JL ANTONARAKIS SE BASSON CT ENG C CARNEY JA
Citation: Ca. Stratakis et al., CARNEY-COMPLEX, PEUTZ-JEGHERS-SYNDROME, COWDEN-DISEASE, AND BANNAYAN-ZONANA-SYNDROME SHARE CUTANEOUS AND ENDOCRINE MANIFESTATIONS, BUT NOT GENETIC-LOCI, The Journal of clinical endocrinology and metabolism, 83(8), 1998, pp. 2972-2976
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 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), British Journal of Haematology, 102(1), 1998, pp. 102-102
IDENTIFICATION OF SEQUENCE VARIANTS AND ANALYSIS OF THE ROLE OF THE CATECHOL-O-METHYL-TRANSFERASE GENE IN SCHIZOPHRENIA SUSCEPTIBILITY
Authors: KARAYIORGOU M GOGOS JA GALKE BL WOLYNIEC PS NESTADT G ANTONARAKIS SE KAZAZIAN HH HOUSMAN DE PULVER AE
Citation: M. Karayiorgou et al., IDENTIFICATION OF SEQUENCE VARIANTS AND ANALYSIS OF THE ROLE OF THE CATECHOL-O-METHYL-TRANSFERASE GENE IN SCHIZOPHRENIA SUSCEPTIBILITY, Biological psychiatry, 43(6), 1998, pp. 425-431
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
MUTATION IN GLI3 IN POSTAXIAL POLYDACTYLY TYPE-A
Authors: RADHAKRISHNA U WILD A GRZESCHIK KH ANTONARAKIS SE
Citation: U. Radhakrishna et al., MUTATION IN GLI3 IN POSTAXIAL POLYDACTYLY TYPE-A, Nature genetics, 17(3), 1997, pp. 269-271
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
ANALYSIS OF MUTATIONS AND CHROMOSOMAL LOCALIZATION OF THE GENE ENCODING RFX5, A NOVEL TRANSCRIPTION FACTOR AFFECTED IN MAJOR HISTOCOMPATIBILITY COMPLEX CLASS-II DEFICIENCY
Authors: VILLARD J REITH W BARRAS E GOS A MORRIS MA ANTONARAKIS SE VANDENELSEN PJ MACH B
Citation: J. Villard et al., ANALYSIS OF MUTATIONS AND CHROMOSOMAL LOCALIZATION OF THE GENE ENCODING RFX5, A NOVEL TRANSCRIPTION FACTOR AFFECTED IN MAJOR HISTOCOMPATIBILITY COMPLEX CLASS-II DEFICIENCY, Human mutation, 10(6), 1997, pp. 430-435
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
CLONING OF THE TMPRSS2 GENE, WHICH ENCODES A NOVEL SERINE-PROTEASE WITH TRANSMEMBRANE, LDLRA, AND SRCR DOMAINS AND MAPS TO 21Q22.3
Authors: PAOLONIGIACOBINO A CHEN HM PEITSCH MC ROSSIER C ANTONARAKIS SE
Citation: A. Paolonigiacobino et al., CLONING OF THE TMPRSS2 GENE, WHICH ENCODES A NOVEL SERINE-PROTEASE WITH TRANSMEMBRANE, LDLRA, AND SRCR DOMAINS AND MAPS TO 21Q22.3, Genomics, 44(3), 1997, pp. 309-320
CLONING OF A NOVEL HUMAN NEURAL CELL-ADHESION MOLECULE GENE (NCAM2) THAT MAPS TO CHROMOSOME REGION 21Q21 AND IS POTENTIALLY INVOLVED IN DOWN-SYNDROME
Authors: PAOLONIGIACOBINO A CHEN HM ANTONARAKIS SE
Citation: A. Paolonigiacobino et al., CLONING OF A NOVEL HUMAN NEURAL CELL-ADHESION MOLECULE GENE (NCAM2) THAT MAPS TO CHROMOSOME REGION 21Q21 AND IS POTENTIALLY INVOLVED IN DOWN-SYNDROME, Genomics, 43(1), 1997, pp. 43-51
CLONING OF A NOVEL HOMEOBOX-CONTAINING GENE, PKNOX1, AND MAPPING TO HUMAN-CHROMOSOME 21Q22.3
Authors: CHEN HM ROSSIER C NAKAMURA Y LYNN A CHAKRAVARTI A ANTONARAKIS SE
Citation: Hm. Chen et al., CLONING OF A NOVEL HOMEOBOX-CONTAINING GENE, PKNOX1, AND MAPPING TO HUMAN-CHROMOSOME 21Q22.3, Genomics, 41(2), 1997, pp. 193-200
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 HUMAN HOMOLOG OF THE DROSOPHILA MNB AND RAT DYRK GENES TO CHROMOSOME 21Q22.2
Authors: CHEN HM ANTONARAKIS SE
Citation: Hm. Chen et Se. Antonarakis, LOCALIZATION OF A HUMAN HOMOLOG OF THE DROSOPHILA MNB AND RAT DYRK GENES TO CHROMOSOME 21Q22.2, Human genetics, 99(2), 1997, pp. 262-265
A LARGE FAMILY WITH SUBTELOMERIC TRANSLOCATION T(18-21)(Q23-Q22.1) AND MOLECULAR BREAKPOINT IN THE DOWN-SYNDROME CRITICAL REGION
Authors: BARTSCH O HINKEL GK PETERSEN MB KONIG U BUGGE M MIKKELSEN M AVRAMOPOULOS D MORRIS M ANTONARAKIS SE
Citation: O. Bartsch et al., A LARGE FAMILY WITH SUBTELOMERIC TRANSLOCATION T(18-21)(Q23-Q22.1) AND MOLECULAR BREAKPOINT IN THE DOWN-SYNDROME CRITICAL REGION, Human genetics, 100(5-6), 1997, pp. 669-675
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
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
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
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
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