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Results: 1-25 | 26-27
Results: 1-25/27
GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM (VOL 7, PG 1119, 1998)
Authors: NESTOROWICZ A GLASER B WILSON BA SHYNG SL NICHOLS CG STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM (VOL 7, PG 1119, 1998), Human molecular genetics (Print), 7(9), 1998, pp. 1527-1527
GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM
Authors: NESTOROWICZ A GLASER B WILSON BA SHYNG SL NICHOLS CG STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., GENETIC-HETEROGENEITY IN FAMILIAL HYPERINSULINISM, Human molecular genetics (Print), 7(7), 1998, pp. 1119-1128
FAMILIAL HYPERINSULINISM WITH APPARENT AUTOSOMAL-DOMINANT INHERITANCE- CLINICAL AND GENETIC-DIFFERENCES FROM THE AUTOSOMAL RECESSIVE VARIANT
Authors: THORNTON PS SATINSMITH MS HEROLD K GLASER B CHIU KC NESTOROWICZ A PERMUTT MA BAKER L STANLEY CA
Citation: Ps. Thornton et al., FAMILIAL HYPERINSULINISM WITH APPARENT AUTOSOMAL-DOMINANT INHERITANCE- CLINICAL AND GENETIC-DIFFERENCES FROM THE AUTOSOMAL RECESSIVE VARIANT, The Journal of pediatrics, 132(1), 1998, pp. 9-14
WEST NILE VIRUS ENVELOPE PROTEINS - NUCLEOTIDE-SEQUENCE ANALYSIS OF STRAINS DIFFERING IN MOUSE NEUROINVASIVENESS
Authors: CHAMBERS TJ HALEVY M NESTOROWICZ A RICE CM LUSTIG S
Citation: Tj. Chambers et al., WEST NILE VIRUS ENVELOPE PROTEINS - NUCLEOTIDE-SEQUENCE ANALYSIS OF STRAINS DIFFERING IN MOUSE NEUROINVASIVENESS, Journal of General Virology, 79, 1998, pp. 2375-2380
FUNCTIONAL ANALYSES OF NOVEL MUTATIONS IN THE SULFONYLUREA RECEPTOR-1ASSOCIATED WITH PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
Authors: SHYNG SL FERRIGNI T SHEPARD JB NESTOROWICZ A GLASER B PERMUTT MA NICHOLS CG
Citation: Sl. Shyng et al., FUNCTIONAL ANALYSES OF NOVEL MUTATIONS IN THE SULFONYLUREA RECEPTOR-1ASSOCIATED WITH PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY, Diabetes, 47(7), 1998, pp. 1145-1151
HYPERINSULINISM - MOLECULAR ETIOLOGY OF FOCAL DISEASE
Authors: RYAN F DEVANEY D JOYCE C NESTOROWICZ A PERMUTT MA GLASER B BARTON DE THORNTON PS
Citation: F. Ryan et al., HYPERINSULINISM - MOLECULAR ETIOLOGY OF FOCAL DISEASE, Archives of Disease in Childhood, 79(5), 1998, pp. 445-447
FREQUENCY OF SUR1 AND KIR6.2 MUTATIONS ASSOCIATED WITH FAMILIAL HYPERINSULINISM (HI)
Authors: NESTOROWICZ A BEHN P GLASER B WILSON BA SCHOOR KP LANDAU H STANLEY CA THORNTON PS PERMUTT MA
Citation: A. Nestorowicz et al., FREQUENCY OF SUR1 AND KIR6.2 MUTATIONS ASSOCIATED WITH FAMILIAL HYPERINSULINISM (HI), Diabetologia, 40, 1997, pp. 12-12
A NONSENSE MUTATION IN THE INWARD RECTIFIER POTASSIUM CHANNEL GENE, KIR6.2, IS ASSOCIATED WITH FAMILIAL HYPERINSULINISM
Authors: NESTOROWICZ A INAGAKI N GONOI T SCHOOR KP WILSON BA GLASER B LANDAU H STANLEY CA THORNTON PS SEINO S PERMUTT MA
Citation: A. Nestorowicz et al., A NONSENSE MUTATION IN THE INWARD RECTIFIER POTASSIUM CHANNEL GENE, KIR6.2, IS ASSOCIATED WITH FAMILIAL HYPERINSULINISM, Diabetes, 46(11), 1997, pp. 1743-1748
IDENTIFICATION OF MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ASSOCIATED WITH FAMILIAL HYPERINSULINISM
Authors: PERMUTT MA NESTOROWICZ A SCHOOR K WILSON BA NICHOLS CG SHYNG SL GLASER B STANLEY C THORNTON PS BRYAN J AGUILARBRYAN L
Citation: Ma. Permutt et al., IDENTIFICATION OF MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ASSOCIATED WITH FAMILIAL HYPERINSULINISM, Journal of investigative medicine, 44(3), 1996, pp. 314-314
CONSTRUCTION OF A YAC CONTIG ENCOMPASSING THE USHER SYNDROME TYPE 1C AND FAMILIAL HYPERINSULINISM LOCI ON CHROMOSOME 11P14-15.1
Authors: AYYAGARI R NESTOROWICZ A LI Y CHANDRASEKHARAPPA S CHINAULT C VANTUINEN P SMITH RJH HEJTMANCIK JF PERMUTT MA
Citation: R. Ayyagari et al., CONSTRUCTION OF A YAC CONTIG ENCOMPASSING THE USHER SYNDROME TYPE 1C AND FAMILIAL HYPERINSULINISM LOCI ON CHROMOSOME 11P14-15.1, PCR methods and applications, 6(6), 1996, pp. 504-514
MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERINSULINISM IN ASHKENAZI JEWS
Authors: NESTOROWICZ A WILSON BA SCHOOR KP INOUE H GLASER B LANDAU H STANLEY CA THORNTON PS CLEMENT JP BRYAN J AGUILARBRYAN L PERMUTT MA
Citation: A. Nestorowicz et al., MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE ARE ASSOCIATED WITH FAMILIAL HYPERINSULINISM IN ASHKENAZI JEWS, Human molecular genetics, 5(11), 1996, pp. 1813-1822
A YAC CONTIG ENCOMPASING THE USHER SYNDROME TYPE 1C LOCUS ON CHROMOSOME
Authors: HEJTMANCIK JF NESTOROWICZ A LI Y VANTUINEN P SMITH RJH KAISERKUPFER M PERMUTT MA AYYAGARI R
Citation: Jf. Hejtmancik et al., A YAC CONTIG ENCOMPASING THE USHER SYNDROME TYPE 1C LOCUS ON CHROMOSOME, Investigative ophthalmology & visual science, 37(3), 1996, pp. 3028-3028
ADENOSINE-DIPHOSPHATE AS AN INTRACELLULAR REGULATOR OF INSULIN-SECRETION
Authors: NICHOLS CG SHYNG SL NESTOROWICZ A GLASER B CLEMENT JP GONZALEZ G AGUILARBRYAN L PERMUTT MA BRYAN J
Citation: Cg. Nichols et al., ADENOSINE-DIPHOSPHATE AS AN INTRACELLULAR REGULATOR OF INSULIN-SECRETION, Science, 272(5269), 1996, pp. 1785-1787
MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE - CLONING OF AN ALTERNATIVELY SPLICED HUMAN ISLET-CELL CDNA, TISSUE DISTRIBUTION, PHYSICALMAPPING, AND IDENTIFICATION OF A POLYMORPHIC GENETIC-MARKER
Authors: FERRER J AOKI M BEHN P NESTOROWICZ A RIGGS A PERMUTT MA
Citation: J. Ferrer et al., MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE - CLONING OF AN ALTERNATIVELY SPLICED HUMAN ISLET-CELL CDNA, TISSUE DISTRIBUTION, PHYSICALMAPPING, AND IDENTIFICATION OF A POLYMORPHIC GENETIC-MARKER, Diabetes, 45(2), 1996, pp. 262-266
MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE - CLONING OF AN ALTERNATIVELY SPLICED HUMAN ISLET-CELL CDNA, TISSUE DISTRIBUTION, PHYSICALMAPPING AND IDENTIFICATION OF A POLYMORPHIC GENETIC-MARKER
Authors: BEHN P FERRER J AOKI M NESTOROWICZ A RIGGS A PERMUTT MA
Citation: P. Behn et al., MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE - CLONING OF AN ALTERNATIVELY SPLICED HUMAN ISLET-CELL CDNA, TISSUE DISTRIBUTION, PHYSICALMAPPING AND IDENTIFICATION OF A POLYMORPHIC GENETIC-MARKER, Diabetes, 45, 1996, pp. 135-135
FAMILIAL HYPERINSULINISM - IDENTIFICATION OF 2 COMMON MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE IN ASHKENAZI JEWS
Authors: NESTOROWICZ A WILSON BA SCHOOR KP GLASER B STANLEY C THORNTON PS BRYAN J AGUILARBRYAN L PERMUTT MA
Citation: A. Nestorowicz et al., FAMILIAL HYPERINSULINISM - IDENTIFICATION OF 2 COMMON MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE IN ASHKENAZI JEWS, Diabetes, 45, 1996, pp. 844-844
RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI JEWS
Authors: GLASER B CHIU KC LIU L ANKER R NESTOROWICZ A COX NJ LANDAU H KAISER N THORNTON PS STANLEY CA CERASI E BAKER L DONISKELLER H PERMUTT MA
Citation: B. Glaser et al., RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI JEWS, Human molecular genetics, 4(5), 1995, pp. 879-886
RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI-JEWS (VOL 4, PG 879, 1995)
Authors: GLASER B CHIU KC LIU L ANKER R NESTOROWICZ A COX NJ LANDAU H KAISER N THORNTON PS STANLEY CA CERASI E BAKER L DONISKELLER H PERMUTT MA
Citation: B. Glaser et al., RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI-JEWS (VOL 4, PG 879, 1995), Human molecular genetics, 4(11), 1995, pp. 2187-2188
A YAC CONTIG ENCOMPASSING THE USHIC LOCUS ON THE SHORT ARM OF CHROMOSOME-11
Authors: AYYAGARI R SMITH RJH POLYJMEROPOLOUS M DAIGER S PELIAS MZ WOZENCRAFT L KAISERKUPFER M NESTOROWICZ A PERMUTT A LEE Y HEJTMANCIK JF
Citation: R. Ayyagari et al., A YAC CONTIG ENCOMPASSING THE USHIC LOCUS ON THE SHORT ARM OF CHROMOSOME-11, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1045-1045
MUTAGENESIS OF THE YELLOW-FEVER VIRUS NS2B 3 CLEAVAGE SITE - DETERMINANTS OF CLEAVAGE SITE-SPECIFICITY AND EFFECTS ON POLYPROTEIN PROCESSING AND VIRAL REPLICATION/
Authors: CHAMBERS TJ NESTOROWICZ A RICE CM
Citation: Tj. Chambers et al., MUTAGENESIS OF THE YELLOW-FEVER VIRUS NS2B 3 CLEAVAGE SITE - DETERMINANTS OF CLEAVAGE SITE-SPECIFICITY AND EFFECTS ON POLYPROTEIN PROCESSING AND VIRAL REPLICATION/, Journal of virology, 69(3), 1995, pp. 1600-1605
MAPPING THE FAMILIAL HYPERINSULINISM (FH) GENE - EXCLUSION OF A K-THAN 1-CM( CHANNEL (KCNCL) GENE AND REFINEMENT OF THE CRITICAL REGION TO LESS)
Authors: CHIU KC NESTOROWICZ A GLASER B WILSON B THORNTON P STANLEY C BAKER L LANDAU H PERMUTT MA
Citation: Kc. Chiu et al., MAPPING THE FAMILIAL HYPERINSULINISM (FH) GENE - EXCLUSION OF A K-THAN 1-CM( CHANNEL (KCNCL) GENE AND REFINEMENT OF THE CRITICAL REGION TO LESS), Diabetes, 44, 1995, pp. 161-161
A CHROMOSOME 11P14-15.1 YAC CONTIG THAT ENCOMPASSES THE USHER SYNDROME TYPE 1C LOCUS
Authors: AYYAGARI R NESTOROWICZ A LI Y SMITH RJH KAISERKUPFER M PERMUTT MA HEJTMANCIK JF
Citation: R. Ayyagari et al., A CHROMOSOME 11P14-15.1 YAC CONTIG THAT ENCOMPASSES THE USHER SYNDROME TYPE 1C LOCUS, American journal of human genetics, 57(4), 1995, pp. 1484-1484
FAMILIAL HYPERINSULINISM MAPS TO CHROMOSOME-11P14-15.1, 30 CM CENTROMERIC TO THE INSULIN GENE
Authors: GLASER B CHIU KC ANKER R NESTOROWICZ A LANDAU H BENBASSAT H SHLOMAI Z KAISER N THORNTON PS STANLEY CA SPIELMAN RS GOGOLINEWENS K CERASI E BAKER L RICE J DONISKELLER H PERMUTT MA
Citation: B. Glaser et al., FAMILIAL HYPERINSULINISM MAPS TO CHROMOSOME-11P14-15.1, 30 CM CENTROMERIC TO THE INSULIN GENE, Nature genetics, 7(2), 1994, pp. 185-188
MUTAGENESIS OF THE YELLOW-FEVER VIRUS NS2A 2B CLEAVAGE SITE - EFFECTSON PROTEOLYTIC PROCESSING, VIRAL REPLICATION, AND EVIDENCE FOR ALTERNATIVE PROCESSING OF THE NS2A PROTEIN/
Authors: NESTOROWICZ A CHAMBERS TJ RICE CM
Citation: A. Nestorowicz et al., MUTAGENESIS OF THE YELLOW-FEVER VIRUS NS2A 2B CLEAVAGE SITE - EFFECTSON PROTEOLYTIC PROCESSING, VIRAL REPLICATION, AND EVIDENCE FOR ALTERNATIVE PROCESSING OF THE NS2A PROTEIN/, Virology, 199(1), 1994, pp. 114-123
NS2B-3 PROTEINASE-MEDIATED PROCESSING IN THE YELLOW-FEVER VIRUS STRUCTURAL REGION - IN-VITRO AND IN-VIVO STUDIES
Authors: AMBERG SM NESTOROWICZ A MCCOURT DW RICE CM
Citation: Sm. Amberg et al., NS2B-3 PROTEINASE-MEDIATED PROCESSING IN THE YELLOW-FEVER VIRUS STRUCTURAL REGION - IN-VITRO AND IN-VIVO STUDIES, Journal of virology, 68(6), 1994, pp. 3794-3802
Risultati: 1-25 | 26-27