AAAAAA

   
Results: 1-24 |
Results: 24
FAMILIAL ADENOMATOUS POLYPOSIS - FROM BEDSIDE TO BENCHSIDE
Authors: OSULLIVAN MJ MCCARTHY TV DOYLE CT
Citation: Mj. Osullivan et al., FAMILIAL ADENOMATOUS POLYPOSIS - FROM BEDSIDE TO BENCHSIDE, AJCP. American journal of clinical pathology, 109(5), 1998, pp. 521-526
NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA
Authors: MANNING BM QUANE KA LYNCH PJ URWYLER A TEGAZZIN V KRIVOSICHORBER R CENSIER K COMI G ADNET P WOLZ W LUNARDI J MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA, Human mutation, 11(1), 1998, pp. 45-50
NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA
Authors: MANNING BM QUANE KA LYNCH PJ URWYLER A TEGAZZIN V KRIVOSICHORBER R CENSIER K COMI G ADNET P WOLZ W LUNARDI J MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA, Human mutation, 11(1), 1998, pp. 45-50
DETECTION OF 5 NOVEL GERMLINE MUTATIONS OF THE APC GENE IN IRISH FAMILIAL ADENOMATOUS POLYPOSIS FAMILIES
Authors: OSULLIVAN MJ MULCAHY TM CAMBELL J OSUILLEABHAIN CB KIRWAN WO DOYLE CT MCCARTHY TV
Citation: Mj. Osullivan et al., DETECTION OF 5 NOVEL GERMLINE MUTATIONS OF THE APC GENE IN IRISH FAMILIAL ADENOMATOUS POLYPOSIS FAMILIES, Human mutation, 1998, pp. 251-253
A NOVEL PROCESS FOR MUTATION DETECTION USING URACIL DNA-GLYCOSYLASE
Authors: VAUGHAN P MCCARTHY TV
Citation: P. Vaughan et Tv. Mccarthy, A NOVEL PROCESS FOR MUTATION DETECTION USING URACIL DNA-GLYCOSYLASE, Nucleic acids research, 26(3), 1998, pp. 810-815
REGULATION OF THE MUTANT SKELETAL-MUSCLE RYANODINE RECEPTOR ISOLATED FROM MALIGNANT HYPERTHERMIA-SUSCEPTIBLE MUSCLE BY FKBP12
Authors: ODRISCOLL S WIEDENMANN D MCCARTHY TV HERRMANNFRANK A
Citation: S. Odriscoll et al., REGULATION OF THE MUTANT SKELETAL-MUSCLE RYANODINE RECEPTOR ISOLATED FROM MALIGNANT HYPERTHERMIA-SUSCEPTIBLE MUSCLE BY FKBP12, Naunyn-Schmiedeberg's archives of pharmacology, 357(4), 1998, pp. 264-264
A DNA GLYCOSYLASE-BASED FINGERPRINT FOR ACCURATE IDENTIFICATION OF AMPLIFIED DNA PRODUCTS AND ITS APPLICATION IN THE ACCURATE DIAGNOSIS OF INFECTIOUS ORGANISMS
Authors: MCGRATH A VAUGHAN P MCCARTHY TV
Citation: A. Mcgrath et al., A DNA GLYCOSYLASE-BASED FINGERPRINT FOR ACCURATE IDENTIFICATION OF AMPLIFIED DNA PRODUCTS AND ITS APPLICATION IN THE ACCURATE DIAGNOSIS OF INFECTIOUS ORGANISMS, Analytical biochemistry, 259(2), 1998, pp. 288-292
IDENTIFICATION OF NOVEL MUTATIONS IN THE RYANODINE-RECEPTOR GENE (RYR1) IN MALIGNANT HYPERTHERMIA - GENOTYPE-PHENOTYPE CORRELATION
Authors: MANNING BM QUANE KA ORDING H URWYLER A TEGAZZIN V LEHANE M OHALLORAN J HARTUNG E GIBLIN LM LYNCH PJ VAUGHAN P CENSIER K BENDIXEN D COMI G HEYTENS L MONSIEURS K FAGERLUND T WOLZ W HEFFRON JJA MULLER CR MCCARTHY TV
Citation: Bm. Manning et al., IDENTIFICATION OF NOVEL MUTATIONS IN THE RYANODINE-RECEPTOR GENE (RYR1) IN MALIGNANT HYPERTHERMIA - GENOTYPE-PHENOTYPE CORRELATION, American journal of human genetics, 62(3), 1998, pp. 599-609
GENOTYPE-PHENOTYPE CORRELATION IN MALIGNANT HYPERTHERMIA SUSCEPTIBILITY
Authors: MCCARTHY TV OHALLORAN J
Citation: Tv. Mccarthy et J. Ohalloran, GENOTYPE-PHENOTYPE CORRELATION IN MALIGNANT HYPERTHERMIA SUSCEPTIBILITY, Acta anaesthesiologica Scandinavica, 42, 1998, pp. 206-209
DNA-REPAIR IN THERMOPHILES - INVESTIGATION OF DNA-BINDING ACTIVITIES IN THERMUS-AQUATICUS
Authors: OGRADY GM MCCARTHY TV VAUGHAN PM
Citation: Gm. Ogrady et al., DNA-REPAIR IN THERMOPHILES - INVESTIGATION OF DNA-BINDING ACTIVITIES IN THERMUS-AQUATICUS, Biochemical Society transactions, 25(1), 1997, pp. 319-322
DETECTION OF A NOVEL MUTATION IN THE RYANODINE RECEPTOR GENE IN AN IRISH MALIGNANT HYPERTHERMIA PEDIGREE - CORRELATION OF THE IVCT RESPONSEWITH THE AFFECTED AND UNAFFECTED HAPLOTYPES
Authors: KEATING KE GIBLIN L LYNCH PJ QUANE KA LEHANE M HEFFRON JJA MCCARTHY TV
Citation: Ke. Keating et al., DETECTION OF A NOVEL MUTATION IN THE RYANODINE RECEPTOR GENE IN AN IRISH MALIGNANT HYPERTHERMIA PEDIGREE - CORRELATION OF THE IVCT RESPONSEWITH THE AFFECTED AND UNAFFECTED HAPLOTYPES, Journal of Medical Genetics, 34(4), 1997, pp. 291-296
CAFFEINE AND HALOTHANE SENSITIVITY OF INTRACELLULAR CA2-RELEASE CHANNEL (RYANODINE RECEPTOR) MUTATIONS ASSOCIATED WITH MALIGNANT HYPERTHERMIA AND( RELEASE IS ALTERED BY 15 CALCIUM)OR CENTRAL CORE DISEASE/
Authors: TONG JF OYAMADA H DEMAUREX N GRINSTEIN S MCCARTHY TV MACLENNAN DH
Citation: Jf. Tong et al., CAFFEINE AND HALOTHANE SENSITIVITY OF INTRACELLULAR CA2-RELEASE CHANNEL (RYANODINE RECEPTOR) MUTATIONS ASSOCIATED WITH MALIGNANT HYPERTHERMIA AND( RELEASE IS ALTERED BY 15 CALCIUM)OR CENTRAL CORE DISEASE/, The Journal of biological chemistry, 272(42), 1997, pp. 26332-26339
DETECTION OF A NOVEL MUTATION AT AMINO-ACID POSITION-614 IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA
Authors: QUANE KA ORDING H KEATING KE MANNING BM HEINE R BENDIXEN D BERG K KRIVOSICHORBER R LEHMANNHORN F FAGERLUND T MCCARTHY TV
Citation: Ka. Quane et al., DETECTION OF A NOVEL MUTATION AT AMINO-ACID POSITION-614 IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA, British Journal of Anaesthesia, 79(3), 1997, pp. 332-337
CALMODULIN SENSITIVITY OF THE SARCOPLASMIC-RETICULUM RYANODINE RECEPTOR FROM NORMAL AND MALIGNANT-HYPERTHERMIA-SUSCEPTIBLE MUSCLE
Authors: ODRISCOLL S MCCARTHY TV EICHINGER HM ERHARDT W LEHMANNHORN F HERRMANNFRANK A
Citation: S. Odriscoll et al., CALMODULIN SENSITIVITY OF THE SARCOPLASMIC-RETICULUM RYANODINE RECEPTOR FROM NORMAL AND MALIGNANT-HYPERTHERMIA-SUSCEPTIBLE MUSCLE, Biochemical journal, 319, 1996, pp. 421-426
DIAGNOSIS OF MALIGNANT HYPERTHERMIA - A COMPARISON OF THE IN-VITRO CONTRACTURE TEST WITH THE MOLECULAR-GENETIC DIAGNOSIS IN A LARGE PEDIGREE
Authors: HEALY JMS QUANE KA KEATING KE LEHANE M HEFFRON JJA MCCARTHY TV
Citation: Jms. Healy et al., DIAGNOSIS OF MALIGNANT HYPERTHERMIA - A COMPARISON OF THE IN-VITRO CONTRACTURE TEST WITH THE MOLECULAR-GENETIC DIAGNOSIS IN A LARGE PEDIGREE, Journal of Medical Genetics, 33(1), 1996, pp. 18-24
CALMODULIN SENSITIVITY OF MH NORMAL AND MH SUSCEPTIBLE MUSCLE
Authors: ODRISCOLL S HERMANNFRANK A MCCARTHY TV LEHMANNHORN F
Citation: S. Odriscoll et al., CALMODULIN SENSITIVITY OF MH NORMAL AND MH SUSCEPTIBLE MUSCLE, Biophysical journal, 70(2), 1996, pp. 58-58
ADENOMATOUS POLYPOSIS-COLI GENE-MUTATIONS IN IRISH PEDIGREES WITH FAMILIAR ADENOMATOUS POLYPOSIS
Authors: OSULLIVAN MJ MULCAHY T SUILLEABHAIN CBO KIRWAN WO DOYLE CT MCCARTHY TV
Citation: Mj. Osullivan et al., ADENOMATOUS POLYPOSIS-COLI GENE-MUTATIONS IN IRISH PEDIGREES WITH FAMILIAR ADENOMATOUS POLYPOSIS, Biochemical Society transactions, 23(2), 1995, pp. 349-349
MUTATION SCREENING OF DIHYDROPYRIDINE RECEPTOR-GAMMA SUBUNIT CDNA FROM MALIGNANT HYPERTHERMIA SUSCEPTIBLE PATIENTS
Authors: LYNCH PJ COUCH FJ GREGG RG POWERS PA HOGAN K MCCARTHY TV
Citation: Pj. Lynch et al., MUTATION SCREENING OF DIHYDROPYRIDINE RECEPTOR-GAMMA SUBUNIT CDNA FROM MALIGNANT HYPERTHERMIA SUSCEPTIBLE PATIENTS, Biochemical Society transactions, 23(2), 1995, pp. 352-352
HAPLOTYPE ANALYSIS OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA AND CENTRAL CORE DISEASE
Authors: QUANE KA KEATING KE HEALY JMS HEFFRON JJA LEHANE M KRIVOSICHORBER R HEYTENS L MCCARTHY TV
Citation: Ka. Quane et al., HAPLOTYPE ANALYSIS OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA AND CENTRAL CORE DISEASE, Biochemical Society transactions, 23(2), 1995, pp. 372-372
DETECTION OF A NOVEL COMMON MUTATION IN THE RYANODINE RECEPTOR GENE IN MALIGNANT HYPERTHERMIA - IMPLICATIONS FOR DIAGNOSIS AND HETEROGENEITY STUDIES
Authors: QUANE KA KEATING KE MANNING BM HEALY JMS MONSIEURS K HEFFRON JJA LEHANE M HEYTENS L KRIVOSICHORBER R ADNET P ELLIS FR MONNIER N LUNARDI J MCCARTHY TV
Citation: Ka. Quane et al., DETECTION OF A NOVEL COMMON MUTATION IN THE RYANODINE RECEPTOR GENE IN MALIGNANT HYPERTHERMIA - IMPLICATIONS FOR DIAGNOSIS AND HETEROGENEITY STUDIES, Human molecular genetics, 3(3), 1994, pp. 471-476
DETECTION OF A NOVEL RYR1 MUTATION IN 4 MALIGNANT HYPERTHERMIA PEDIGREES
Authors: KEATING KE QUANE KA MANNING BM LEHANE M HARTUNG E CENSIER K URWYLER A KLAUSNITZER M MULLER CR HEFFRON JJA MCCARTHY TV
Citation: Ke. Keating et al., DETECTION OF A NOVEL RYR1 MUTATION IN 4 MALIGNANT HYPERTHERMIA PEDIGREES, Human molecular genetics, 3(10), 1994, pp. 1855-1858
MUTATION SCREENING OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA - DETECTION OF A NOVEL TYR TO SER MUTATION IN A PEDIGREE WITH ASSOCIATED CENTRAL CORES
Authors: QUANE KA KEATING KE HEALY JMS MANNING BM KRIVOSICHORBER R KRIVOSIC I MONNIER N LUNARDI J MCCARTHY TV
Citation: Ka. Quane et al., MUTATION SCREENING OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA - DETECTION OF A NOVEL TYR TO SER MUTATION IN A PEDIGREE WITH ASSOCIATED CENTRAL CORES, Genomics, 23(1), 1994, pp. 236-239
MUTATIONS IN THE RYANODINE RECEPTOR GENE IN CENTRAL CORE DISEASE AND MALIGNANT HYPERTHERMIA
Authors: QUANE KA HEALY JMS KEATING KE MANNING BM COUCH FJ PALMUCCI LM DORIGUZZI C FAGERLUND TH BERG K ORDING H BENDIXEN D MORTIER W LINZ U MULLER CR MCCARTHY TV
Citation: Ka. Quane et al., MUTATIONS IN THE RYANODINE RECEPTOR GENE IN CENTRAL CORE DISEASE AND MALIGNANT HYPERTHERMIA, Nature genetics, 5(1), 1993, pp. 51-55
A SHUTTLE VECTOR SYSTEM FOR THE RAPID DETECTION OF RECOMBINATION IN MURINE CELLS
Authors: FANNING LJ MCCARTHY TV
Citation: Lj. Fanning et Tv. Mccarthy, A SHUTTLE VECTOR SYSTEM FOR THE RAPID DETECTION OF RECOMBINATION IN MURINE CELLS, Nucleic acids research, 21(23), 1993, pp. 5530-5531
Risultati: 1-24 |