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Results: 1-15 |
Results: 15
MUTATION IN A PUTATIVE GLYCOSYLATION SITE (N489T) OF BIOTINIDASE IN THE ONLY KNOWN JAPANESE CHILD WITH BIOTINIDASE DEFICIENCY
Authors: POMPONIO RJ YAMAGUCHI A ARASHIMA S HYMES J WOLF B
Citation: Rj. Pomponio et al., MUTATION IN A PUTATIVE GLYCOSYLATION SITE (N489T) OF BIOTINIDASE IN THE ONLY KNOWN JAPANESE CHILD WITH BIOTINIDASE DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 64(2), 1998, pp. 152-154
STRUCTURE OF THE HUMAN BIOTINIDASE GENE
Authors: KNIGHT HC REYNOLDS TR MEYERS GA POMPONIO RJ BUCK GA WOLF B
Citation: Hc. Knight et al., STRUCTURE OF THE HUMAN BIOTINIDASE GENE, Mammalian genome, 9(4), 1998, pp. 327-330
PRENATAL-DIAGNOSIS OF HETEROZYGOSITY FOR BIOTINIDASE DEFICIENCY BY ENZYMATIC AND MOLECULAR ANALYSES
Authors: POMPONIO RJ HYMERS J PANDYA A LANDA B MELONE P JAVAHERI R MARDACH R MORTON SW MEYERS GA REYNOLDS T BUCK G NANCE WE WOLF B
Citation: Rj. Pomponio et al., PRENATAL-DIAGNOSIS OF HETEROZYGOSITY FOR BIOTINIDASE DEFICIENCY BY ENZYMATIC AND MOLECULAR ANALYSES, Prenatal diagnosis, 18(2), 1998, pp. 117-122
DELAYED-ONSET PROFOUND BIOTINIDASE DEFICIENCY
Authors: WOLF B POMPONIO RJ NORRGARD KJ LOTT IT BAUMGARTNER ER SUORMALA T RAMAEKERS VT COSKUN T TOKATLI A OZALP I HYMES J
Citation: B. Wolf et al., DELAYED-ONSET PROFOUND BIOTINIDASE DEFICIENCY, The Journal of pediatrics, 132(2), 1998, pp. 362-365
MUTATION (Q456H) IS THE MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN CHILDREN ASCERTAINED BY NEWBORN SCREENING IN THE UNITED-STATES
Authors: NORRGARD KJ POMPONIO RJ SWANGO KL HYMES J REYNOLDS TR BUCK GA WOLF B
Citation: Kj. Norrgard et al., MUTATION (Q456H) IS THE MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN CHILDREN ASCERTAINED BY NEWBORN SCREENING IN THE UNITED-STATES, Biochemical and molecular medicine, 61(1), 1997, pp. 22-27
PROFOUND BIOTINIDASE DEFICIENCY CAUSED BY A POINT MUTATION THAT CREATES A DOWNSTREAM CRYPTIC 3'-SPLICE ACCEPTOR SITE WITHIN AN EXON OF THE HUMAN BIOTINIDASE GENE
Authors: POMPONIO RJ REYNOLDS TR MANDEL H ADMONI O MELONE PD BUCK GA WOLF B
Citation: Rj. Pomponio et al., PROFOUND BIOTINIDASE DEFICIENCY CAUSED BY A POINT MUTATION THAT CREATES A DOWNSTREAM CRYPTIC 3'-SPLICE ACCEPTOR SITE WITHIN AN EXON OF THE HUMAN BIOTINIDASE GENE, Human molecular genetics, 6(5), 1997, pp. 739-745
ARG538 TO CYS MUTATION IN A CPG DINUCLEOTIDE OF THE HUMAN BIOTINIDASEGENE IS THE 2ND MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN
Authors: POMPONIO RJ NORRGARD KJ HYMES J REYNOLDS TR BUCK GA BAUMGARTNER R SUORMALA T WOLF B
Citation: Rj. Pomponio et al., ARG538 TO CYS MUTATION IN A CPG DINUCLEOTIDE OF THE HUMAN BIOTINIDASEGENE IS THE 2ND MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN, Human genetics, 99(4), 1997, pp. 506-512
PROFOUND BIOTINIDASE DEFICIENCY IN 2 ASYMPTOMATIC ADULTS
Authors: WOLF B NORRGARD K POMPONIO RJ MOCK DM MCVOY JRS FLEISCHHAUER K SHAPIRO S BLITZER MG HYMES J
Citation: B. Wolf et al., PROFOUND BIOTINIDASE DEFICIENCY IN 2 ASYMPTOMATIC ADULTS, American journal of medical genetics, 73(1), 1997, pp. 5-9
MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS
Authors: POMPONIO RJ HYMES J REYNOLDS TR MEYERS GA FLEISCHHAUER K BUCK GA WOLF B
Citation: Rj. Pomponio et al., MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS, Pediatric research, 42(6), 1997, pp. 840-848
MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS
Authors: POMPONIO RJ HYMES J REYNOLDS TR MEYERS GA FLEISCHHAUER K BUCK GA WOLF B
Citation: Rj. Pomponio et al., MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS, American journal of human genetics, 61(4), 1997, pp. 1508-1508
DELETION INSERTION MUTATION THAT CAUSES BIOTINIDASE DEFICIENCY MAY RESULT FROM THE FORMATION OF A QUASI-PALINDROMIC STRUCTURE/
Authors: POMPONIO RJ NARASIMHAN V REYNOLDS TR BUCK GA POVIRK LF WOLF B
Citation: Rj. Pomponio et al., DELETION INSERTION MUTATION THAT CAUSES BIOTINIDASE DEFICIENCY MAY RESULT FROM THE FORMATION OF A QUASI-PALINDROMIC STRUCTURE/, Human molecular genetics, 5(10), 1996, pp. 1657-1661
MUTATIONAL HOTSPOT IN THE HUMAN BIOTINIDASE GENE CAUSES PROFOUND BIOTINIDASE DEFICIENCY
Authors: POMPONIO RJ REYNOLDS TR COLE H BUCK GA WOLF B
Citation: Rj. Pomponio et al., MUTATIONAL HOTSPOT IN THE HUMAN BIOTINIDASE GENE CAUSES PROFOUND BIOTINIDASE DEFICIENCY, Nature genetics, 11(1), 1995, pp. 96-98
MUTATIONAL HOTSPOT IN THE HUMAN SERUM BIOTINIDASE GENE AS A CAUSE OF BIOTINIDASE DEFICIENCY
Authors: POMPONIO RJ REYNOLDS TR COLE H BUCK GA WOLF B
Citation: Rj. Pomponio et al., MUTATIONAL HOTSPOT IN THE HUMAN SERUM BIOTINIDASE GENE AS A CAUSE OF BIOTINIDASE DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 28-28
SEX-CHROMOSOME COMPOSITION OF COMPLETE HYDATIDIFORM MOLES - RELATIONSHIP TO METASTASIS
Authors: MUTTER GL POMPONIO RJ BERKOWITZ RS GENEST DR
Citation: Gl. Mutter et al., SEX-CHROMOSOME COMPOSITION OF COMPLETE HYDATIDIFORM MOLES - RELATIONSHIP TO METASTASIS, American journal of obstetrics and gynecology, 168(5), 1993, pp. 1547-1551
OPPOSITELY IMPRINTED GENES-H19 AND INSULIN-LIKE GROWTH FACTOR-II ARE COEXPRESSED IN HUMAN ANDROGENETIC TROPHOBLAST
Authors: MUTTER GL STEWART CL CHAPONOT ML POMPONIO RJ
Citation: Gl. Mutter et al., OPPOSITELY IMPRINTED GENES-H19 AND INSULIN-LIKE GROWTH FACTOR-II ARE COEXPRESSED IN HUMAN ANDROGENETIC TROPHOBLAST, American journal of human genetics, 53(5), 1993, pp. 1096-1102
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