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Results: 1-23 |
Results: 23
ATAXIA-TELANGIECTASIA IN THE JAPANESE POPULATION - IDENTIFICATION OF R1917X, W2491R, R2909G, IVS33-]A, AND 7883DEL5, THE LATTER 2 BEING RELATIVELY COMMON MUTATIONS(2T)
Authors: FUKAO T SONG XQ YOSHIDA T TASHITA H KANEKO H TERAMOTO T INOUE R KATAMURA K MAYUMI M HIRATANI M TANIGUCHI N ARAI J WAKIGUCHI H BARSHIRA A SHILOH Y KONDO N
Citation: T. Fukao et al., ATAXIA-TELANGIECTASIA IN THE JAPANESE POPULATION - IDENTIFICATION OF R1917X, W2491R, R2909G, IVS33-]A, AND 7883DEL5, THE LATTER 2 BEING RELATIVELY COMMON MUTATIONS(2T), Human mutation, 12(5), 1998, pp. 338-343
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
NOVEL EXONIC MUTATION (5319-G TO 5319-A) RESULTING IN 2 ABERRANTLY SPLICED TRANSCRIPTS OF THE ATM GENE IN A JAPANESE PATIENT WITH ATAXIA-TELANGIECTASIA
Authors: FUKAO T TASHITA H TERAMOTO T INOUE R KANEKO H KOMIYAMA K BARSHIRA A GILAD S SHILOH Y NISHIMURA M KONDO N
Citation: T. Fukao et al., NOVEL EXONIC MUTATION (5319-G TO 5319-A) RESULTING IN 2 ABERRANTLY SPLICED TRANSCRIPTS OF THE ATM GENE IN A JAPANESE PATIENT WITH ATAXIA-TELANGIECTASIA, Human mutation, 1998, pp. 223-225
GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS
Authors: GILAD S CHESSA L KHOSRAVI R RUSSELL P GALANTY Y PIANE M GATTI RA JORGENSEN TJ SHILOH Y BARSHIRA A
Citation: S. Gilad et al., GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS, American journal of human genetics, 62(3), 1998, pp. 551-561
BIALLELIC MUTATIONS IN THE ATM GENE IN T-PROLYMPHOCYTIC LEUKEMIA
Authors: STILGENBAUER S SCHAFFNER C LITTERST A LIEBISCH P GILAD S BARSHIRA A JAMES MR LICHTER P DOHNER H
Citation: S. Stilgenbauer et al., BIALLELIC MUTATIONS IN THE ATM GENE IN T-PROLYMPHOCYTIC LEUKEMIA, Nature medicine, 3(10), 1997, pp. 1155-1159
ATAXIA-TELANGIECTASIA LOCUS - SEQUENCE-ANALYSIS OF 184 KB OF HUMAN GENOMIC DNA CONTAINING THE ENTIRE ATM GENE
Authors: PLATZER M ROTMAN G BAUER D UZIEL T SAVITSKY K BARSHIRA A GILAD S SHILOH Y ROSENTHAL A
Citation: M. Platzer et al., ATAXIA-TELANGIECTASIA LOCUS - SEQUENCE-ANALYSIS OF 184 KB OF HUMAN GENOMIC DNA CONTAINING THE ENTIRE ATM GENE, PCR methods and applications, 7(6), 1997, pp. 592-605
RECOMBINANT ATM PROTEIN COMPLEMENTS THE CELLULAR A-T PHENOTYPE
Authors: ZIV Y BARSHIRA A PECKER I RUSSELL P JORGENSEN TJ TSARFATI I SHILOH Y
Citation: Y. Ziv et al., RECOMBINANT ATM PROTEIN COMPLEMENTS THE CELLULAR A-T PHENOTYPE, Oncogene, 15(2), 1997, pp. 159-167
IDENTIFICATION OF ATM AS A TUMOR-SUPPRESSOR GENE IN T-PROLYMPHOCYTIC LEUKEMIA
Authors: STILGENBAUER S SCHAFFNER C LITTERST A LIEBISCH P GILAD S BARSHIRA A JAMES MR LICHTER P DOHNER K
Citation: S. Stilgenbauer et al., IDENTIFICATION OF ATM AS A TUMOR-SUPPRESSOR GENE IN T-PROLYMPHOCYTIC LEUKEMIA, Blood, 90(10), 1997, pp. 1844-1844
ANALYSIS OF ATAXIA-TELANGIECTASIA AT THE PROTEIN AND DNA LEVELS IN A JAPANESE POPULATION
Authors: FUKAO T SONG XQ KANEKO H YOSHIDA T TASHITA H TERAMOTO T INOUE R BARSHIRA A GILAD S SHILOH Y WATTERS D LAVIN MF KONDO N
Citation: T. Fukao et al., ANALYSIS OF ATAXIA-TELANGIECTASIA AT THE PROTEIN AND DNA LEVELS IN A JAPANESE POPULATION, American journal of human genetics, 61(4), 1997, pp. 2399-2399
PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA
Authors: GILAD S KHOSRAVI R SHKEDY D UZIEL T ZIV Y SAVITSKY K ROTMAN G SMITH S CHESSA L JORGENSEN TJ HARNIK R FRYDMAN M SANAL O PORTNOI S GOLDWICZ Z JASPERS NGJ GATTI RA LENOIR G LAVIN MF TATSUMI K WEGNER RD SHILOH Y BARSHIRA A
Citation: S. Gilad et al., PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA, Human molecular genetics, 5(4), 1996, pp. 433-439
ATAXIA-TELANGIECTASIA - FOUNDER EFFECT AMONG NORTH-AFRICAN JEWS
Authors: GILAD S BARSHIRA A HARNIK R SHKEDY D ZIV Y KHOSRAVI R BROWN K VANAGAITE L XU G FRYDMAN M LAVIN MF HILL D TAGLE DA SHILOH Y
Citation: S. Gilad et al., ATAXIA-TELANGIECTASIA - FOUNDER EFFECT AMONG NORTH-AFRICAN JEWS, Human molecular genetics, 5(12), 1996, pp. 2033-2037
A HUMAN GENE (DDX10) ENCODING A PUTATIVE DEAD-BOX RNA HELICASE AT 11Q22-Q23
Authors: SAVITSKY K ZIV Y BARSHIRA A GILAD S TAGLE DA SMITH S UZIEL T SFEZ S NAHMIAS J SARTIEL A EDDY RL SHOWS TB COLLINS FS SHILOH Y ROTMAN G
Citation: K. Savitsky et al., A HUMAN GENE (DDX10) ENCODING A PUTATIVE DEAD-BOX RNA HELICASE AT 11Q22-Q23, Genomics, 33(2), 1996, pp. 199-206
HUMAN CDNA CLONES THAT MODIFY RADIOMIMETIC SENSITIVITY OF ATAXIA-TELANGIECTASIA (GROUP-A) CELLS
Authors: ZIV Y BARSHIRA A JORGENSEN TJ RUSSELL PS SARTIEL A SHOWS TB EDDY RL BUCHWALD M LEGERSKI R SCHIMKE RT SHILOH Y
Citation: Y. Ziv et al., HUMAN CDNA CLONES THAT MODIFY RADIOMIMETIC SENSITIVITY OF ATAXIA-TELANGIECTASIA (GROUP-A) CELLS, Somatic cell and molecular genetics, 21(2), 1995, pp. 99-111
A HIGH-DENSITY MICROSATELLITE MAP OF THE ATAXIA-TELANGIECTASIA LOCUS
Authors: VANAGAITE L JAMES MR ROTMAN G SAVITSKY K BARSHIRA A GILAD S ZIV Y UCHENIK V SARTIEL A COLLINS FS SHEFFIELD VC RICHARD CW WEISSENBACH J SHILOH Y
Citation: L. Vanagaite et al., A HIGH-DENSITY MICROSATELLITE MAP OF THE ATAXIA-TELANGIECTASIA LOCUS, Human genetics, 95(4), 1995, pp. 451-454
A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE
Authors: SAVITSKY K BARSHIRA A GILAD S ROTMAN G ZIV Y VANAGAITE L TAGLE DA SMITH S UZIEL T SFEZ S ASHKENAZI M PECKER I FRYDMAN M HARNIK R PATANJALI SR SIMMONS A CLINES GA SARTIEL A GATTI RA CHESSA L SANAL O LAVIN MF JASPERS NGJ MALCOLM A TAYLOR R ARLETT CF MIKI T WEISSMAN SM LOVETT M COLLINS FS SHILOH Y
Citation: K. Savitsky et al., A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE, Science, 268(5218), 1995, pp. 1749-1753
ATAXIA-TELANGIECTASIA - FROM PHENOTYPE TO GENE, ON TO BIOLOGY AND BACK TO THE PATIENT
Authors: SHILOH Y SAVITSKY K BARSHIRA A GILAD S ZIV Y TAGLE DA SFEZ S UZIEL T PECKER I VANAGAITE L SMITH S HARNIK R COLLINS FS ROTMAN G
Citation: Y. Shiloh et al., ATAXIA-TELANGIECTASIA - FROM PHENOTYPE TO GENE, ON TO BIOLOGY AND BACK TO THE PATIENT, American journal of human genetics, 57(4), 1995, pp. 6-6
PHYSICAL AND GENETIC-MAPPING AT THE ATA ATC LOCUS ON CHROMOSOME 11Q22-23/
Authors: ROTMAN G SAVITSKI K VANAGAITE L BARSHIRA A ZIV Y GILAD S UCHENIK V SMITH S SHILOH Y
Citation: G. Rotman et al., PHYSICAL AND GENETIC-MAPPING AT THE ATA ATC LOCUS ON CHROMOSOME 11Q22-23/, International journal of radiation biology, 66(6), 1994, pp. 63-66
A YAC CONTIG SPANNING THE ATAXIA-TELANGIECTASIA LOCUS (GROUP-A AND GROUP-C) AT 11Q22-Q23
Authors: ROTMAN G SAVITSKY K ZIV Y COLE CG HIGGINS MJ BARAM I DUNHAM I BARSHIRA A VANAGAITE L QIN SZ ZANG JL NOWAK NJ CHANDRASEKHARAPPA SC LEHRACH H AVIVI L SHOWS TB COLLINS FS BENTLEY DR SHILOH Y
Citation: G. Rotman et al., A YAC CONTIG SPANNING THE ATAXIA-TELANGIECTASIA LOCUS (GROUP-A AND GROUP-C) AT 11Q22-Q23, Genomics, 24(2), 1994, pp. 234-242
ATAXIA-TELANGIECTASIA - POSITIONAL COMPLEMENTATION CLONING CONVERGE
Authors: SHILOH Y ZIV Y BARSHIRA A SAVITSKI K VANAGAITE L ELAD S SMITH S OCHNIK V ROTMAN G
Citation: Y. Shiloh et al., ATAXIA-TELANGIECTASIA - POSITIONAL COMPLEMENTATION CLONING CONVERGE, Journal of neurochemistry, 63, 1994, pp. 190000004-190000004
PAIRED STSS AMPLIFIED FROM RADIATION HYBRIDS, AND FROM ASSOCIATED YACS, IDENTIFY HIGHLY POLYMORPHIC LOCI FLANKING THE ATAXIA-TELANGIECTASIALOCUS ON CHROMOSOME-11Q22-23
Authors: MCCONVILLE CM BYRD PJ AMBROSE HJ STANKOVIC T ZIV Y BARSHIRA A VANAGAITE L ROTMAN G SHILOH Y GILLETT GT RILEY JH TAYLOR AMR
Citation: Cm. Mcconville et al., PAIRED STSS AMPLIFIED FROM RADIATION HYBRIDS, AND FROM ASSOCIATED YACS, IDENTIFY HIGHLY POLYMORPHIC LOCI FLANKING THE ATAXIA-TELANGIECTASIALOCUS ON CHROMOSOME-11Q22-23, Human molecular genetics, 2(7), 1993, pp. 969-974
ATAXIA-TELANGIECTASIA - ALLELIC ASSOCIATION WITH 11Q22-23 MARKERS IN MOROCCAN-JEWISH PATIENTS
Authors: OSKATO R BARSHIRA A VANAGAITE L ZIV Y EHRLICH S ROTMAN G MCCONVILLE CM CHAKRAVARTI A SHILOH Y
Citation: R. Oskato et al., ATAXIA-TELANGIECTASIA - ALLELIC ASSOCIATION WITH 11Q22-23 MARKERS IN MOROCCAN-JEWISH PATIENTS, American journal of human genetics, 53(3), 1993, pp. 1055-1055
LONG-RANGE CLONING OF THE ATAXIA-TELANGIECTASIA LOCUS ON CHROMOSOME-11Q22-23
Authors: ROTMAN G COLE CG DUNHAM I SAVITSKY K BARAM I ZIV Y BARSHIRA A AVIVI L NOWAK N SHOWS TB CHANDRASEKHARAPPA SC BOAL J COLLINS FS LEHRACH H BENTLEY DR SHILOH Y
Citation: G. Rotman et al., LONG-RANGE CLONING OF THE ATAXIA-TELANGIECTASIA LOCUS ON CHROMOSOME-11Q22-23, American journal of human genetics, 53(3), 1993, pp. 1352-1352
Risultati: 1-23 |