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Results: 1-22 |
Results: 22
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 CAUSED BY AN ACTIVATING GLUCOKINASE MUTATION
Authors: GLASER B KESAVAN P HEYMAN M DAVIS E CUESTA A BUCHS A STANLEY CA THORNTON PS PERMUTT MA MATSCHINSKY FM HEROLD KC
Citation: B. Glaser et al., FAMILIAL HYPERINSULINISM CAUSED BY AN ACTIVATING GLUCOKINASE MUTATION, The New England journal of medicine, 338(4), 1998, pp. 226-230
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
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
A SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA
Authors: WEINZIMER SA STANLEY CA BERRY GT YUDKOFF M TUCHMAN M THORNTON PS
Citation: Sa. Weinzimer et al., A SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA, The Journal of pediatrics, 130(4), 1997, pp. 661-664
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
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
GROWTH IN CHILDREN AFTER BONE-MARROW TRANSPLANTATION FOR ACUTE MYELOGENOUS LEUKEMIA AS COMPARED TO ACUTE LYMPHOCYTIC-LEUKEMIA
Authors: ALTER CA THORNTON PS WILLI SM BUNIN N MOSHANG T
Citation: Ca. Alter et al., GROWTH IN CHILDREN AFTER BONE-MARROW TRANSPLANTATION FOR ACUTE MYELOGENOUS LEUKEMIA AS COMPARED TO ACUTE LYMPHOCYTIC-LEUKEMIA, Journal of pediatric endocrinology & metabolism, 9(1), 1996, pp. 51-57
USE OF A SENSITIVE ASSAY TO DOCUMENT ELEVATED INSULIN LEVELS IN CONGENITAL HYPERINSULINISM
Authors: SATINSMITH MS KATZ LEL DROTT HR COLLETSOLBERG P WEINZIMER SA THORNTON PS BAKER L STANLEY CA
Citation: Ms. Satinsmith et al., USE OF A SENSITIVE ASSAY TO DOCUMENT ELEVATED INSULIN LEVELS IN CONGENITAL HYPERINSULINISM, Pediatric research, 39(4), 1996, pp. 575-575
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
GENERATION OF A MOUSE LINE NULL FOR VITAMIN-D-BINDING PROTEIN BY TARGETED HOMOLOGOUS RECOMBINATION
Authors: THORNTON PS MONKS B HU Y HADDAD IG LIEBHABER SA COOKE NE
Citation: Ps. Thornton et al., GENERATION OF A MOUSE LINE NULL FOR VITAMIN-D-BINDING PROTEIN BY TARGETED HOMOLOGOUS RECOMBINATION, Journal of bone and mineral research, 10, 1995, pp. 494-494
FAMILIAL HYPERINSULINISM (HI) INHERITED IN AN AUTOSOMAL-DOMINANT (AD)FORM DIFFERS CLINICALLY AND GENETICALLY FROM THE MORE COMMON AUTOSOMAL RECESSIVE (AR) FORM
Authors: THORNTON PS GLASER B HEROLD K CHIU KC SATINSMITH MS PERMUTT MA
Citation: Ps. Thornton et al., FAMILIAL HYPERINSULINISM (HI) INHERITED IN AN AUTOSOMAL-DOMINANT (AD)FORM DIFFERS CLINICALLY AND GENETICALLY FROM THE MORE COMMON AUTOSOMAL RECESSIVE (AR) FORM, Pediatric research, 37(4), 1995, pp. 100-100
DISCORDANCE FOR HYPERINSULINEMIC HYPOGLYCEMIA IN MONOZYGOTIC TWINS - REPLY
Authors: THORNTON PS BAKER L STANLEY CA
Citation: Ps. Thornton et al., DISCORDANCE FOR HYPERINSULINEMIC HYPOGLYCEMIA IN MONOZYGOTIC TWINS - REPLY, The Journal of pediatrics, 126(6), 1995, pp. 1017-1017
THE NEW HIGHLY SENSITIVE ADRENOCORTICOTROPIN ASSAY IMPROVES DETECTIONOF PATIENTS WITH PARTIAL ADRENOCORTICOTROPIN DEFICIENCY IN A SHORT-TERM METYRAPONE TEST
Authors: THORNTON PS ALTER CA KATZ LEL GRUCCIO DA WINYARD PJ MOSHANG T
Citation: Ps. Thornton et al., THE NEW HIGHLY SENSITIVE ADRENOCORTICOTROPIN ASSAY IMPROVES DETECTIONOF PATIENTS WITH PARTIAL ADRENOCORTICOTROPIN DEFICIENCY IN A SHORT-TERM METYRAPONE TEST, Journal of pediatric endocrinology, 7(4), 1994, pp. 317-324
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
IN-VITRO AND IN-VIVO EFFECTS OF GRANULOCYTE-COLONY-STIMULATING FACTORON NEUTROPHILS IN GLYCOGEN-STORAGE-DISEASE TYPE-1B - GRANULOCYTE-COLONY-STIMULATING FACTOR THERAPY CORRECTS THE NEUTROPENIA AND THE DEFECTSIN RESPIRATORY BURST ACTIVITY AND CA2+ MOBILIZATION
Authors: MCCAWLEY LJ KORCHAK HM DOUGLAS SD CAMPBELL DE THORNTON PS STANLEY CA BAKER L KILPATRICK L
Citation: Lj. Mccawley et al., IN-VITRO AND IN-VIVO EFFECTS OF GRANULOCYTE-COLONY-STIMULATING FACTORON NEUTROPHILS IN GLYCOGEN-STORAGE-DISEASE TYPE-1B - GRANULOCYTE-COLONY-STIMULATING FACTOR THERAPY CORRECTS THE NEUTROPENIA AND THE DEFECTSIN RESPIRATORY BURST ACTIVITY AND CA2+ MOBILIZATION, Pediatric research, 35(1), 1994, pp. 84-90
SHORT-TERM AND LONG-TERM USE OF OCTREOTIDE IN THE TREATMENT OF CONGENITAL HYPERINSULINISM
Authors: THORNTON PS ALTER CA KATZ LEL BAKER L STANLEY CA
Citation: Ps. Thornton et al., SHORT-TERM AND LONG-TERM USE OF OCTREOTIDE IN THE TREATMENT OF CONGENITAL HYPERINSULINISM, The Journal of pediatrics, 123(4), 1993, pp. 637-643
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