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Results: 1-20 |
Results: 20
X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE WITH PUTATIVE NUCLEOLAR FUNCTIONS
Authors: HEISS NS KNIGHT SW VULLIAMY TJ KLAUCK SM WIEMANN S MASON PJ POUSTKA A DOKAL I
Citation: Ns. Heiss et al., X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE WITH PUTATIVE NUCLEOLAR FUNCTIONS, Nature genetics, 19(1), 1998, pp. 32-38
1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS
Authors: KNIGHT SW VULLIAMY TJ HEISS NS MATTHIJS G DEVRIENDT K CONNOR JM DURSO M POUSTKA A MASON PJ DOKAL I
Citation: Sw. Knight et al., 1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS, Journal of Medical Genetics, 35(12), 1998, pp. 993-996
X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE ENCODING A PROTEIN WITH PUTATIVE NUCLEOLAR FUNCTIONS
Authors: HEISS NS KNIGHT SW VULLIAMY TJ KLAUCK SM WIEMANN S MASON PJ POUSTKA A DOKAL I
Citation: Ns. Heiss et al., X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE ENCODING A PROTEIN WITH PUTATIVE NUCLEOLAR FUNCTIONS, British Journal of Haematology, 102(1), 1998, pp. 270-271
CLINICAL AND HEMATOLOGICAL CONSEQUENCES OF RECURRENT G6PD MUTATIONS AND A SINGLE NEW MUTATION CAUSING CHRONIC NONSPHEROCYTIC HEMOLYTIC-ANEMIA
Authors: VULLIAMY TJ KAEDA JS AITCHAFA D MANGERINI R ROPER D BARBOT J MEHTA AB ATHANASSIOUMETAXA M LUZZATTO L MASON PJ
Citation: Tj. Vulliamy et al., CLINICAL AND HEMATOLOGICAL CONSEQUENCES OF RECURRENT G6PD MUTATIONS AND A SINGLE NEW MUTATION CAUSING CHRONIC NONSPHEROCYTIC HEMOLYTIC-ANEMIA, British Journal of Haematology, 101(4), 1998, pp. 670-675
THE EFFECT OF NATURAL AND INDUCED MUTATIONS AT THE DIMER INTERFACE OFHUMAN G6PD
Authors: MASON PJ SCOPES DA BAUTISTA JM NAYLOR C ADAMS M VULLIAMY TJ
Citation: Pj. Mason et al., THE EFFECT OF NATURAL AND INDUCED MUTATIONS AT THE DIMER INTERFACE OFHUMAN G6PD, British Journal of Haematology, 101, 1998, pp. 19-19
PLASMODIUM-FALCIPARUM GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) - THE N-TERMINAL PORTION IS HOMOLOGOUS TO A PREDICTED PROTEIN ENCODED NEAR TO GGPD IN HAEMOPHILUS-INFLUENZAE
Authors: SCOPES DA BAUTISTA JM VULLIAMY TJ MASON PJ
Citation: Da. Scopes et al., PLASMODIUM-FALCIPARUM GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) - THE N-TERMINAL PORTION IS HOMOLOGOUS TO A PREDICTED PROTEIN ENCODED NEAR TO GGPD IN HAEMOPHILUS-INFLUENZAE, Molecular microbiology, 23(4), 1997, pp. 847-848
ORGANIZATION OF THE HUMAN PROTEIN-4.1 GENOMIC LOCUS - NEW INSIGHTS INTO THE TISSUE-SPECIFIC ALTERNATIVE SPLICING OF THE PRE-MESSENGER-RNA
Authors: BAKLOUTI F HUANG SC VULLIAMY TJ DELAUNAY J BENZ EJ
Citation: F. Baklouti et al., ORGANIZATION OF THE HUMAN PROTEIN-4.1 GENOMIC LOCUS - NEW INSIGHTS INTO THE TISSUE-SPECIFIC ALTERNATIVE SPLICING OF THE PRE-MESSENGER-RNA, Genomics, 39(3), 1997, pp. 289-302
SKEWED X-INACTIVATION IN CARRIERS OF X-LINKED DYSKERATOSIS-CONGENITA
Authors: VULLIAMY TJ KNIGHT SW DOKAL I MASON PJ
Citation: Tj. Vulliamy et al., SKEWED X-INACTIVATION IN CARRIERS OF X-LINKED DYSKERATOSIS-CONGENITA, Blood, 90(6), 1997, pp. 2213-2216
GLUCOSE-6-PHOSPHATE-DEHYDROGENASE MUTATIONS CAUSING ENZYME DEFICIENCYIN A MODEL OF THE TERTIARY STRUCTURE OF THE HUMAN ENZYME
Authors: NAYLOR CE ROWLAND P BASAK AK GOVER S MASON PJ BAUTISTA JM VULLIAMY TJ LUZZATTO L ADAMS MJ
Citation: Ce. Naylor et al., GLUCOSE-6-PHOSPHATE-DEHYDROGENASE MUTATIONS CAUSING ENZYME DEFICIENCYIN A MODEL OF THE TERTIARY STRUCTURE OF THE HUMAN ENZYME, Blood, 87(7), 1996, pp. 2974-2982
MOLECULAR CHARACTERIZATION OF ERYTHROCYTE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN AL-AIN DISTRICT, UNITED-ARAB-EMIRATES
Authors: BAYOUMI RA NUREKAMAL MSA TADAYYON M MOHAMED KKA MAHBOOB BH QURESHI MM LAKHANI MS AWAAD MO KAEDA J VULLIAMY TJ LUZZATTO L
Citation: Ra. Bayoumi et al., MOLECULAR CHARACTERIZATION OF ERYTHROCYTE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN AL-AIN DISTRICT, UNITED-ARAB-EMIRATES, Human heredity, 46(3), 1996, pp. 136-141
MOLECULAR CHARACTERIZATION OF G6PD DEFICIENCY IN OMAN
Authors: DAAR S VULLIAMY TJ KAEDA J MASON PJ LUZZATTO L
Citation: S. Daar et al., MOLECULAR CHARACTERIZATION OF G6PD DEFICIENCY IN OMAN, Human heredity, 46(3), 1996, pp. 172-176
SEVERE HEMOLYTIC-ANEMIA ASSOCIATED WITH THE HOMOZYGOUS STATE FOR AN UNSTABLE HEMOGLOBIN-VARIANT (HB BUSHWICK)
Authors: SRIVASTAVA P KAEDA JS ROPER D VULLIAMY TJ BUCKLEY M LUZZATTO L
Citation: P. Srivastava et al., SEVERE HEMOLYTIC-ANEMIA ASSOCIATED WITH THE HOMOZYGOUS STATE FOR AN UNSTABLE HEMOGLOBIN-VARIANT (HB BUSHWICK), Blood, 86(5), 1995, pp. 1977-1982
NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE MUTATIONS ASSOCIATED WITH CHRONIC ANEMIA
Authors: MASON PJ SONATI MF MACDONALD D LANZA C BUSUTIL D TOWN M CORCORAN CM KAEDA JS STEVENS DJ ALISMAIL S ALTAY C HATTON C LEWIS DS MCMULLIN MF MELONI T PAUL B PIPPARD M PRENTICE AG VULLIAMY TJ LUZZATTO L
Citation: Pj. Mason et al., NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE MUTATIONS ASSOCIATED WITH CHRONIC ANEMIA, Blood, 85(5), 1995, pp. 1377-1380
A NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT, G6PD-ORISSA-(44-ALA-]GLY), IS THE MAJOR POLYMORPHIC VARIANT IN TRIBAL POPULATIONS IN INDIA
Authors: KAEDA JS CHHOTRAY GP RANJIT MR BAUTISTA JM REDDY PH STEVENS D NAIDU JM BRITT RP VULLIAMY TJ LUZZATTO L MASON PJ
Citation: Js. Kaeda et al., A NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT, G6PD-ORISSA-(44-ALA-]GLY), IS THE MAJOR POLYMORPHIC VARIANT IN TRIBAL POPULATIONS IN INDIA, American journal of human genetics, 57(6), 1995, pp. 1335-1341
MULTIPLE GLUCOSE-6-PHOSPHATE DEHYDROGENASE-DEFICIENT VARIANTS CORRELATE WITH MALARIA ENDEMICITY IN THE VANUATU ARCHIPELAGO (SOUTHWESTERN PACIFIC)
Authors: GANCZAKOWSKI M TOWN M BOWDEN DK VULLIAMY TJ KANEKO A CLEGG JB WEATHERALL DJ LUZZATTO L
Citation: M. Ganczakowski et al., MULTIPLE GLUCOSE-6-PHOSPHATE DEHYDROGENASE-DEFICIENT VARIANTS CORRELATE WITH MALARIA ENDEMICITY IN THE VANUATU ARCHIPELAGO (SOUTHWESTERN PACIFIC), American journal of human genetics, 56(1), 1995, pp. 294-301
THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) DEFICIENT VARIANT G6PD UNION (454-ARG-]CYS) HAS A WORLDWIDE DISTRIBUTION POSSIBLY DUE TO RECURRENT MUTATION
Authors: ROVIRA A VULLIAMY TJ PUJADES A LUZZATTO L CORRONS JLV
Citation: A. Rovira et al., THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) DEFICIENT VARIANT G6PD UNION (454-ARG-]CYS) HAS A WORLDWIDE DISTRIBUTION POSSIBLY DUE TO RECURRENT MUTATION, Human molecular genetics, 3(5), 1994, pp. 833-835
CLONING OF THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE GENE FROM PLASMODIUM-FALCIPARUM
Authors: OBRIEN E KURDIHAIDAR B WANACHIWANAWIN W CARVAJAL JL VULLIAMY TJ CAPPADORO M MASON PJ LUZZATTO L
Citation: E. Obrien et al., CLONING OF THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE GENE FROM PLASMODIUM-FALCIPARUM, Molecular and biochemical parasitology, 64(2), 1994, pp. 313-326
G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION
Authors: FILOSA S CALABRO V LANIA G VULLIAMY TJ BRANCATI C TAGARELLI A LUZZATTO L MARTINI G
Citation: S. Filosa et al., G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION, Genomics, 17(1), 1993, pp. 6-14
G6PD MEDITERRANEAN ACCOUNTS FOR THE HIGH PREVALENCE OF G6PD DEFICIENCY IN KURDISH JEWS
Authors: OPPENHEIM A JURY CL RUND D VULLIAMY TJ LUZZATTO L
Citation: A. Oppenheim et al., G6PD MEDITERRANEAN ACCOUNTS FOR THE HIGH PREVALENCE OF G6PD DEFICIENCY IN KURDISH JEWS, Human genetics, 91(3), 1993, pp. 293-294
MOLECULAR HETEROGENEITY UNDERLYING THE G6PD MEDITERRANEAN PHENOTYPE
Authors: CORCORAN CM CALABRO V TAMAGNINI G TOWN M HAIDAR B VULLIAMY TJ MASON PJ LUZZATTO L
Citation: Cm. Corcoran et al., MOLECULAR HETEROGENEITY UNDERLYING THE G6PD MEDITERRANEAN PHENOTYPE, Human genetics, 88(6), 1992, pp. 688-690
Risultati: 1-20 |