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Results: 1-25 | 26-35
Results: 1-25/35
GLUTARYL-COA DEHYDROGENASE MUTATIONS IN GLUTARIC ACIDEMIA (TYPE-I) - REVIEW AND REPORT OF 30 NOVEL MUTATIONS
Authors: GOODMAN SI STEIN DE SCHLESINGER S CHRISTENSEN E SCHWARTZ M GREENBERG CR ELPELEG ON
Citation: Si. Goodman et al., GLUTARYL-COA DEHYDROGENASE MUTATIONS IN GLUTARIC ACIDEMIA (TYPE-I) - REVIEW AND REPORT OF 30 NOVEL MUTATIONS, Human mutation, 12(3), 1998, pp. 141-144
CLINICAL DEFICITS IN HUNTINGTON-DISEASE CORRELATE WITH REDUCED STRIATAL UPTAKE ON [I-123] EPIDEPRIDE SPECT
Authors: LESLIE WD GREENBERG CR ABRAMS D HOBSON D
Citation: Wd. Leslie et al., CLINICAL DEFICITS IN HUNTINGTON-DISEASE CORRELATE WITH REDUCED STRIATAL UPTAKE ON [I-123] EPIDEPRIDE SPECT, The Journal of nuclear medicine, 39(5), 1998, pp. 487-487
HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE
Authors: STANLEY CA LIEU YK HSU BYL BURLINA AB GREENBERG CR HOPWOOD NJ PERLMAN K RICH BH ZAMMARCHI E PONCZ M
Citation: Ca. Stanley et al., HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE, The New England journal of medicine, 338(19), 1998, pp. 1352-1357
A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES MAPS TO CHROMOSOME REGION 9Q31-Q33 - EVIDENCE FOR ANOTHER LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS
Authors: WEILER T GREENBERG CR ZELINSKI T NYLEN E COGHLAN G CRUMLEY MJ FUJIWARA TM MORGAN K WROGEMANN K
Citation: T. Weiler et al., A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES MAPS TO CHROMOSOME REGION 9Q31-Q33 - EVIDENCE FOR ANOTHER LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS, American journal of human genetics, 63(1), 1998, pp. 140-147
AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS
Authors: CARBONE MA MACKAY N LING MF COLE DEC DOUGLAS C RIGAT B FEIGENBAUM A CLARKE JTR HAWORTH JC GREENBERG CR SEARGEANT L ROBINSON BH
Citation: Ma. Carbone et al., AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1312-1319
CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES
Authors: CHONG SS ALMQVIST E TELENIUS H LATRAY L NICHOL K BOURDELATPARKS B GOLDBERG YP HADDAD BR RICHARDS F SILLENCE D GREENBERG CR IVES E VANDENENGH G HUGHES MR HAYDEN MR
Citation: Ss. Chong et al., CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES, Human molecular genetics, 6(2), 1997, pp. 301-309
LOW MSAFP LEVELS AND WILLIAMS-SYNDROME
Authors: CHODIRKER BN GREENBERG CR GIDDINS NG DAWSON AJ EVANS JA CHUDLEY AR
Citation: Bn. Chodirker et al., LOW MSAFP LEVELS AND WILLIAMS-SYNDROME, American journal of medical genetics, 72(4), 1997, pp. 448-450
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES DOES NOT MAP TOANY OF THE KNOWN LGMD LOCI
Authors: WEILER T GREENBERG CR NYLEN E MORGAN K FUJIWARA TM CRUMLEY MJ ZELINSKY T HALLIDAY W NICKEL B TRIGGSRAINE B WROGEMANN K
Citation: T. Weiler et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES DOES NOT MAP TOANY OF THE KNOWN LGMD LOCI, American journal of medical genetics, 72(3), 1997, pp. 363-368
COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION
Authors: CHRISTENSEN E RIBES A BUSQUETS C PINEDA M DURAN M POLLTHE BT GREENBERG CR LEFFERS H SCHWARTZ M
Citation: E. Christensen et al., COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION, Journal of inherited metabolic disease, 20(3), 1997, pp. 383-386
NEUROPATHOLOGICAL FINDINGS IN 8 CHILDREN WITH CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME
Authors: DELBIGIO MR GREENBERG CR RORKE LB SCHNUR R MCDONALDMCGINN DM ZACKAI EH
Citation: Mr. Delbigio et al., NEUROPATHOLOGICAL FINDINGS IN 8 CHILDREN WITH CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME, Journal of neuropathology and experimental neurology, 56(10), 1997, pp. 1147-1157
AN EXPANDING SPECTRUM OF METABOLIC DISORDERS CAN CAUSE ACUTE FATTY LIVER OF PREGNANCY (AFLP), HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME (HELLP), AND HYPEREMESIS GRAVIDARUM
Authors: INNES AM SEARGEANT LE BALACHANDRA K ROE CR WANDERS RJA APPLEGARTH D CASIRO O GREWAR D FRIESEN F GREENBERG CR
Citation: Am. Innes et al., AN EXPANDING SPECTRUM OF METABOLIC DISORDERS CAN CAUSE ACUTE FATTY LIVER OF PREGNANCY (AFLP), HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME (HELLP), AND HYPEREMESIS GRAVIDARUM, American journal of human genetics, 61(4), 1997, pp. 1467-1467
SEARCHING FOR MODIFIER GENE(S) IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE2B AND MIYOSHI-MYOPATHY
Authors: FRANZMANN TL GREENBERG CR ILLARIOSHKIN SN IVANOVASMOLENSKAYA IA MORGAN K WEILER T NYLEN E WROGEMANN K
Citation: Tl. Franzmann et al., SEARCHING FOR MODIFIER GENE(S) IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE2B AND MIYOSHI-MYOPATHY, American journal of human genetics, 61(4), 1997, pp. 1602-1602
COMPARISON OF IODINE-123-EPIDEPRIDE AND IODINE-123-IBZM FOR DOPAMINE D2 RECEPTOR IMAGING
Authors: LESLIE WD ABRAMS DN GREENBERG CR HOBSON D
Citation: Wd. Leslie et al., COMPARISON OF IODINE-123-EPIDEPRIDE AND IODINE-123-IBZM FOR DOPAMINE D2 RECEPTOR IMAGING, The Journal of nuclear medicine, 37(10), 1996, pp. 1589-1591
ACUTE-PANCREATITIS IN A PATIENT WITH GLUTARIC ACIDEMIA TYPE-I
Authors: LEMIRE EG MOROZ S POLLOCK B POSTUMA R GREENBERG CR
Citation: Eg. Lemire et al., ACUTE-PANCREATITIS IN A PATIENT WITH GLUTARIC ACIDEMIA TYPE-I, The Journal of pediatrics, 128(4), 1996, pp. 589-590
COMPARISON OF THE SEGREGATION OF THE RYR1 C1840T MUTATION WITH SEGREGATION OF THE CAFFEINE HALOTHANE CONTRACTURE TEST-RESULTS FOR MALIGNANTHYPERTHERMIA SUSCEPTIBILITY IN A LARGE MANITOBA MENNONITE FAMILY
Authors: SERFAS KD BOSE D PATEL L WROGEMANN K PHILLIPS MS MACLENNAN DH GREENBERG CR
Citation: Kd. Serfas et al., COMPARISON OF THE SEGREGATION OF THE RYR1 C1840T MUTATION WITH SEGREGATION OF THE CAFFEINE HALOTHANE CONTRACTURE TEST-RESULTS FOR MALIGNANTHYPERTHERMIA SUSCEPTIBILITY IN A LARGE MANITOBA MENNONITE FAMILY, Anesthesiology, 84(2), 1996, pp. 322-329
LIMB-GIRDLE MUSCULAR-DYSTROPHY AND MIYOSHI MYOPATHY IN AN ABORIGINAL CANADIAN KINDRED MAP TO LGMD2B AND SEGREGATE WITH THE SAME HAPLOTYPE
Authors: WEILER T GREENBERG CR NYLEN E HALLIDAY W MORGAN K EGGERTSON D WROGEMANN K
Citation: T. Weiler et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY AND MIYOSHI MYOPATHY IN AN ABORIGINAL CANADIAN KINDRED MAP TO LGMD2B AND SEGREGATE WITH THE SAME HAPLOTYPE, American journal of human genetics, 59(4), 1996, pp. 872-878
LEU-676-PRO MUTATION OF THE ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN A LARGE HUTTERITE KINDRED
Authors: BELSHAM DD PEREIRA F GREENBERG CR LIAO SS WROGEMANN K
Citation: Dd. Belsham et al., LEU-676-PRO MUTATION OF THE ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN A LARGE HUTTERITE KINDRED, Human mutation, 5(1), 1995, pp. 28-33
A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5)
Authors: GREENBERG CR REIMER D SINGAL R TRIGGSRAINE B CHUDLEY AE DILLING LA PHILIPPS S HAWORTH JC SEARGEANT LE GOODMAN SI
Citation: Cr. Greenberg et al., A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5), Human molecular genetics, 4(3), 1995, pp. 493-495
GERMLINE MOSAICISM IN A FEMALE WHO SEEMED TO BE A CARRIER BY SEQUENCE-ANALYSIS
Authors: SOMMER SS KNOLL A GREENBERG CR KETTERLING RP
Citation: Ss. Sommer et al., GERMLINE MOSAICISM IN A FEMALE WHO SEEMED TO BE A CARRIER BY SEQUENCE-ANALYSIS, Human molecular genetics, 4(11), 1995, pp. 2181-2182
ARE WE ALL OF ONE MIND - CLINICIAN AND PATIENTS OPINIONS REGARDING THE DEVELOPMENT OF A SERVICE PROTOCOL FOR PREDICTIVE TESTING FOR HUNTINGTON-DISEASE
Authors: COPLEY TT WIGGINS S DUFRASNE S BLOCH M ADAM S MCKELLIN W HAYDEN MR IVES E WELCH JP FULLER A MILLER S ANDERMANN E ROY M MCLEOD P HUNTER A MESCHINO W WHELAN D EISENBERG D SOLTAN H KANE J GREENBERG CR KNIGHT J THOMPSON LP SHOKEIR MHK BAMFORTH S GROVER S SUCHOWERSKY O KLIMEK M
Citation: Tt. Copley et al., ARE WE ALL OF ONE MIND - CLINICIAN AND PATIENTS OPINIONS REGARDING THE DEVELOPMENT OF A SERVICE PROTOCOL FOR PREDICTIVE TESTING FOR HUNTINGTON-DISEASE, American journal of medical genetics, 58(1), 1995, pp. 59-69
EVIDENCE FOR RITSCHER-SCHINZEL SYNDROME IN CANADIAN NATIVE INDIANS
Authors: MARLES SL CHODIRKER BN GREENBERG CR CHUDLEY AE
Citation: Sl. Marles et al., EVIDENCE FOR RITSCHER-SCHINZEL SYNDROME IN CANADIAN NATIVE INDIANS, American journal of medical genetics, 56(4), 1995, pp. 343-350
2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU)
Authors: GREENBERG CR HAWORTH JC SEARGEANT LE DILLING LA LAITINEN A HIETALA M AULA P
Citation: Cr. Greenberg et al., 2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU), Pediatric research, 37(4), 1995, pp. 149-149
INTRACRANIAL HEMORRHAGE AND GLUTARIC ACIDEMIA TYPE-I (GAI) - A NEW ASSOCIATION
Authors: GREENBERG CR BOOTH FA DEGROOT GW REGGIN JD
Citation: Cr. Greenberg et al., INTRACRANIAL HEMORRHAGE AND GLUTARIC ACIDEMIA TYPE-I (GAI) - A NEW ASSOCIATION, Pediatric research, 37(4), 1995, pp. 379-379
ANOTHER LOCUS FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: WROGEMANN K WEILER T NYLEN EG HALLIDAY W GREENBERG CR
Citation: K. Wrogemann et al., ANOTHER LOCUS FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1185-1185
LOW MSAFP LEVELS AND WILLIAMS-SYNDROME
Authors: CHODIRKER BN GREENBERG CR GIDDINS NG DAWSON AJ EVANS JA CHUDLEY AE
Citation: Bn. Chodirker et al., LOW MSAFP LEVELS AND WILLIAMS-SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1607-1607
Risultati: 1-25 | 26-35