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Results: 1-25 | 26-50 | 51-58
Results: 1-25/58
MOLECULAR HETEROGENEITY IN MUCOPOLYSACCHARIDOSIS IVA IN AUSTRALIA ANDNORTHERN-IRELAND - 9 NOVEL MUTATIONS INCLUDING T312S, A COMMON ALLELETHAT CONFERS A MILD PHENOTYPE
Authors: YAMADA N FUKUDA S TOMATSU S MULLER V HOPWOOD JJ NELSON J KATO Z YAMAGISHI A SUKEGAWA K KONDO N ORII T
Citation: N. Yamada et al., MOLECULAR HETEROGENEITY IN MUCOPOLYSACCHARIDOSIS IVA IN AUSTRALIA ANDNORTHERN-IRELAND - 9 NOVEL MUTATIONS INCLUDING T312S, A COMMON ALLELETHAT CONFERS A MILD PHENOTYPE, Human mutation, 11(3), 1998, pp. 202-208
A NOVEL MUTATION, R125X IN PEROXISOME ASSEMBLY FACTOR-I RESPONSIBLE FOR ZELLWEGER-SYNDROME
Authors: SHIMOZAWA N SUZUKI Y TOMATSU S NAKAMURA H KONO T TAKADA H TSUKAMOTO T FUJIKI Y ORII T KONDO N
Citation: N. Shimozawa et al., A NOVEL MUTATION, R125X IN PEROXISOME ASSEMBLY FACTOR-I RESPONSIBLE FOR ZELLWEGER-SYNDROME, Human mutation, 1998, pp. 134-136
TREATMENT OF MPS-VII (SLY-DISEASE) BY ALLOGENEIC BMT IN A FEMALE WITHHOMOZYGOUS A619V MUTATION
Authors: YAMADA Y KATO K SUKEGAWA K TOMATSU S FUKUDA S EMURA S KOJIMA S MATSUYAMA T SLY WS KONDO N ORII T
Citation: Y. Yamada et al., TREATMENT OF MPS-VII (SLY-DISEASE) BY ALLOGENEIC BMT IN A FEMALE WITHHOMOZYGOUS A619V MUTATION, Bone marrow transplantation, 21(6), 1998, pp. 629-634
BETA-GLUCURONIDASE P408S, P415L ALLELE IN A MEXICAN POPULATION - POPULATION SCREENING IN GUADALAJARA AND PRENATAL-DIAGNOSIS
Authors: ISLAM MR ARREOLA MPG WONG P TOMATSU S CORONA JS SLY WS
Citation: Mr. Islam et al., BETA-GLUCURONIDASE P408S, P415L ALLELE IN A MEXICAN POPULATION - POPULATION SCREENING IN GUADALAJARA AND PRENATAL-DIAGNOSIS, Prenatal diagnosis, 18(8), 1998, pp. 822-825
MUTATION ANALYSIS IN THE IDURONATE-2-SULFATASE GENE IN 43 JAPANESE PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE)
Authors: ISOGAI K SUKEGAWA K TOMATSU S FUKAO T SONG XQ YAMADA Y FUKUDA S ORII T KONDO N
Citation: K. Isogai et al., MUTATION ANALYSIS IN THE IDURONATE-2-SULFATASE GENE IN 43 JAPANESE PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE), Journal of inherited metabolic disease, 21(1), 1998, pp. 60-70
HFE GENE KNOCKOUT PRODUCES MOUSE MODEL OF HEREDITARY HEMOCHROMATOSIS
Authors: ZHOU XY TOMATSU S FLEMING RE PARKKILA S WAHEED A JIANG JX FEI Y BRUNT EM RUDDY DA PRASS CE SCHATZMAN RC ONEILL R BRITTON RS BACON BR SLY WS
Citation: Xy. Zhou et al., HFE GENE KNOCKOUT PRODUCES MOUSE MODEL OF HEREDITARY HEMOCHROMATOSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(5), 1998, pp. 2492-2497
KNOCKOUT OF THE MOUSE HFE GENE-PRODUCTS HEMOCHROMATOSIS
Authors: ZHOU XY TOMATSU S FLEMING RE PARKKILA S WAHEED A SLY WS BRUNT EM TSUCHIHASHI Z FEDER JN SCHATZMAN RC ONEILL R BRITTON RS BACON BR
Citation: Xy. Zhou et al., KNOCKOUT OF THE MOUSE HFE GENE-PRODUCTS HEMOCHROMATOSIS, Gastroenterology, 114(4), 1998, pp. 712-712
BROTHER SISTER SIBLINGS AFFECTED WITH HUNTER-DISEASE - EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION/
Authors: SUKEGAWA K MATSUZAKI T FUKUDA S MASUNO M FUKAO T KOKURYU M IWATA S TOMATSU S ORII T KONDO N
Citation: K. Sukegawa et al., BROTHER SISTER SIBLINGS AFFECTED WITH HUNTER-DISEASE - EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION/, Clinical genetics, 53(2), 1998, pp. 96-101
HUNTER-DISEASE IN A GIRL CAUSED BY R468Q MUTATION IN THE IDURONATE-2-SULFATASE GENE AND SKEWED INACTIVATION OF THE X-CHROMOSOME CARRYING THE NORMAL ALLELE
Authors: SUKEGAWA K SONG XQ MASUNO M FUKAO T SHIMOZAWA N FUKUDA S ISOGAI K NISHIO H MATSUO M TOMATSU S KONDO N ORII T
Citation: K. Sukegawa et al., HUNTER-DISEASE IN A GIRL CAUSED BY R468Q MUTATION IN THE IDURONATE-2-SULFATASE GENE AND SKEWED INACTIVATION OF THE X-CHROMOSOME CARRYING THE NORMAL ALLELE, Human mutation, 10(5), 1997, pp. 361-367
14 NOVEL MUCOPOLYSACCHARIDOSIS IVA PRODUCING MUTATIONS IN GALNS GENE
Authors: TOMATSU S FUKUDA S COOPER A WRAITH JE FERREIRA P DINATALE P TORTORA P FUJIMOTO A KATO Z YAMADA N ISOGAI K YAMAGISHI A SUKEGAWA K SUZUKI Y SHIMOZAWA N KONDO N SLY WS ORII T
Citation: S. Tomatsu et al., 14 NOVEL MUCOPOLYSACCHARIDOSIS IVA PRODUCING MUTATIONS IN GALNS GENE, Human mutation, 10(5), 1997, pp. 368-375
IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME
Authors: BUNGE S KLEIJER WJ TYLKISZYMANSKA A STEGLICH C BECK M TOMATSU S FUKUDA S POORTHUIS BJHM CZARTORYSKA B ORII T GAL A
Citation: S. Bunge et al., IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME, Human mutation, 10(3), 1997, pp. 223-232
MUCOPOLYSACCHARIDOSIS-IVA - A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON-4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO-DISEASE
Authors: FUKUDA S YAMADA N TOMATSU S SUKEGAWA K MONTANO AM HOPWOOD JJ MULLER V ORII T KONDO N
Citation: S. Fukuda et al., MUCOPOLYSACCHARIDOSIS-IVA - A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON-4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO-DISEASE, JPN J HUM G, 42(2), 1997, pp. 317-322
A NOVEL COMMON MISSENSE MUTATION G301C IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN MUCOPOLYSACCHARIDOSIS IVA
Authors: KATO Z FUKUDA S TOMATSU S VEGA H YASUNAGA T YAMAGISHI A YAMADA N VALENCIA A BARRERA LA SUKEGAWA K ORII T KONDO N
Citation: Z. Kato et al., A NOVEL COMMON MISSENSE MUTATION G301C IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN MUCOPOLYSACCHARIDOSIS IVA, Human genetics, 101(1), 1997, pp. 97-101
ASSOCIATION OF THE TRANSFERRIN RECEPTOR IN HUMAN PLACENTA WITH HFE, THE PROTEIN DEFECTIVE IN HEREDITARY HEMOCHROMATOSIS
Authors: PARKKILA S WAHEED A BRITTON RS BACON BR ZHOU XY TOMATSU S FLEMING RE SLY WS
Citation: S. Parkkila et al., ASSOCIATION OF THE TRANSFERRIN RECEPTOR IN HUMAN PLACENTA WITH HFE, THE PROTEIN DEFECTIVE IN HEREDITARY HEMOCHROMATOSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 94(24), 1997, pp. 13198-13202
HEREDITARY HEMOCHROMATOSIS - EFFECTS OF C282Y AND H63D MUTATIONS ON ASSOCIATION WITH BETA(2)-MICROGLOBULIN, INTRACELLULAR PROCESSING, AND CELL-SURFACE EXPRESSION OF THE HFE PROTEIN IN COS-7 CELLS
Authors: WAHEED A PARKKILA S ZHOU XY TOMATSU S TSUCHIHASHI Z FEDER JN SCHATZMAN RC BRITTON RS BACON BR SLY WS
Citation: A. Waheed et al., HEREDITARY HEMOCHROMATOSIS - EFFECTS OF C282Y AND H63D MUTATIONS ON ASSOCIATION WITH BETA(2)-MICROGLOBULIN, INTRACELLULAR PROCESSING, AND CELL-SURFACE EXPRESSION OF THE HFE PROTEIN IN COS-7 CELLS, Proceedings of the National Academy of Sciences of the United Statesof America, 94(23), 1997, pp. 12384-12389
MUCOPOLYSACCHARIDOSIS-IVA (MORQUIO-A) - 3 NOVEL SMALL DELETIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE
Authors: FUKUDA S TOMATSU S COOPER A WRAITH JE KATO Z YAMADA N ISOGAI K SUKEGAWA K KONDO N ORII T
Citation: S. Fukuda et al., MUCOPOLYSACCHARIDOSIS-IVA (MORQUIO-A) - 3 NOVEL SMALL DELETIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE, Human mutation, 8(2), 1996, pp. 187-190
MUCOPOLYSACCHARIDOSIS IVA - SUBMICROSCOPIC DELETION OF 16Q24.3 AND A NOVEL R386C MUTATION OF N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENEIN A CLASSICAL MORQUIO-DISEASE
Authors: FUKUDA S TOMATSU S MASUNO M OGAWA T YAMAGISHI A REZVI GMM SUKEGAWA K SHIMOZAWA N SUZUKI Y KONDO N IMAIZUMI K KUROKI Y OKABE T ORII T
Citation: S. Fukuda et al., MUCOPOLYSACCHARIDOSIS IVA - SUBMICROSCOPIC DELETION OF 16Q24.3 AND A NOVEL R386C MUTATION OF N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENEIN A CLASSICAL MORQUIO-DISEASE, Human mutation, 7(2), 1996, pp. 123-134
MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF COMMON MUTATIONS THAT CAUSE HURLER AND SCHEIE SYNDROMES IN JAPANESE POPULATIONS
Authors: YAMAGISHI A TOMATSU S FUKUDA S UCHIYAMA S SHIMOZAWA N SUZUKI Y KONDO N SUKEGAWA K ORII T
Citation: A. Yamagishi et al., MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF COMMON MUTATIONS THAT CAUSE HURLER AND SCHEIE SYNDROMES IN JAPANESE POPULATIONS, Human mutation, 7(1), 1996, pp. 23-29
HETEROALLELIC MISSENSE MUTATIONS OF THE GALACTOSAMINE-B-SULFATE SULFATASE (GALNS) GENE IN A MILD FORM OF MORQUIO-DISEASE (MPS IVA)
Authors: COLE DEC FUKUDA S GORDON BA RIP JW LECOUTEUR AN RUPAR CA TOMATSU S OGAWA T SUKEGAWA K ORII T
Citation: Dec. Cole et al., HETEROALLELIC MISSENSE MUTATIONS OF THE GALACTOSAMINE-B-SULFATE SULFATASE (GALNS) GENE IN A MILD FORM OF MORQUIO-DISEASE (MPS IVA), American journal of medical genetics, 63(4), 1996, pp. 558-565
MUCOPOLYSACCHARIDOSIS IVA - A COMPARATIVE-STUDY OF POLYMORPHIC DNA HAPLOTYPES IN THE CAUCASIAN AND JAPANESE POPULATIONS
Authors: REZVI GMM TOMATSU S FUKUDA S YAMAGISHI A COOPER A WRAITH JE IWATA H KATO Z YAMADA N SUKEGAWA K SHIMOZAWA N SUZUKI Y KONDO N ORII T
Citation: Gmm. Rezvi et al., MUCOPOLYSACCHARIDOSIS IVA - A COMPARATIVE-STUDY OF POLYMORPHIC DNA HAPLOTYPES IN THE CAUCASIAN AND JAPANESE POPULATIONS, Journal of inherited metabolic disease, 19(3), 1996, pp. 301-308
CORRECTION BY GENE-EXPRESSION OF BIOCHEMICAL-ABNORMALITIES IN FIBROBLASTS FROM ZELLWEGER PATIENTS
Authors: SHIMOZAWA N SUZUKI Y TOMATSU S TSUKAMOTO T OSUMI T FUJIKI Y KAMIJO K HASHIMOTO T KONDO N ORII T
Citation: N. Shimozawa et al., CORRECTION BY GENE-EXPRESSION OF BIOCHEMICAL-ABNORMALITIES IN FIBROBLASTS FROM ZELLWEGER PATIENTS, Pediatric research, 39(5), 1996, pp. 812-815
CARRIER IDENTIFICATION OF X-LINKED ADRENOLEUKODYSTROPHY BY MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS AND LIGNOCERIC ACID OXIDATION
Authors: INOUE K SUZUKI Y YAJIMA S SHIMOZAWA N TOMATSU S ORII T KONDO N
Citation: K. Inoue et al., CARRIER IDENTIFICATION OF X-LINKED ADRENOLEUKODYSTROPHY BY MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS AND LIGNOCERIC ACID OXIDATION, Clinical genetics, 50(5), 1996, pp. 348-352
HUMAN PEROXISOME ASSEMBLY FACTOR-II (PAF-2) - A GENE RESPONSIBLE FOR GROUP-C PEROXISOME BIOGENESIS DISORDER IN HUMANS
Authors: FUKUDA S SHIMOZAWA N SUZUKI Y ZHANG ZY TOMATSU S TSUKAMOTO T HASHIGUCHI N OSUMI T MASUNO M IMAIZUMI K KUROKI Y FUJIKI Y ORII T KONDO N
Citation: S. Fukuda et al., HUMAN PEROXISOME ASSEMBLY FACTOR-II (PAF-2) - A GENE RESPONSIBLE FOR GROUP-C PEROXISOME BIOGENESIS DISORDER IN HUMANS, American journal of human genetics, 59(6), 1996, pp. 1210-1220
MUCOPOLYSACCHARIDOSIS IVA - 4 NEW EXONIC MUTATIONS IN PATIENTS WITH N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE DEFICIENCY
Authors: TOMATSU S FUKUDA S YAMAGISHI A COOPER A WRAITH JE HORI T KATO Z YAMADA N ISOGAI K KONDO N SUZUKI Y SHIMOZAWA N ORII T
Citation: S. Tomatsu et al., MUCOPOLYSACCHARIDOSIS IVA - 4 NEW EXONIC MUTATIONS IN PATIENTS WITH N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE DEFICIENCY, American journal of human genetics, 58(5), 1996, pp. 950-962
MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE) - IDENTIFICATION AND CHARACTERIZATION OF 8-POINT MUTATIONS IN THE IDURONATE-2-SULFATASE GENEIN JAPANESE PATIENTS
Authors: SUKEGAWA K TOMATSU S FUKAO T IWATA H SONG XQ YAMADA Y FUKUDA S ISOGAI K ORII T
Citation: K. Sukegawa et al., MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE) - IDENTIFICATION AND CHARACTERIZATION OF 8-POINT MUTATIONS IN THE IDURONATE-2-SULFATASE GENEIN JAPANESE PATIENTS, Human mutation, 6(2), 1995, pp. 136-143
Risultati: 1-25 | 26-50 | 51-58