Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Quane, K. A, Healy, J.M.S, Keating, K. E, Manning, B. M, Couch, F. J, Palmucci, L. M, Doriguzzi, C, Fagerlund, T. H, Berg, K, Ording, H, Bendixen, D, Mortier, W, Linz, U, Muller, C. R, McCarthy, T. V
Published in Nature genetics (01.09.1993)
Published in Nature genetics (01.09.1993)
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Screening for asymptomatic celiac disease among patients referred for bone densitometry measurement
Drummond, F.J, Annis, P, O'Sullivan, K, Wynne, F, Daly, M, Shanahan, F, Quane, K.A, Molloy, M.G
Published in Bone (New York, N.Y.) (01.12.2003)
Published in Bone (New York, N.Y.) (01.12.2003)
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Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation
Manning, Bernadette M., Quane, Kathleen A., Ording, Helle, Urwyler, Albert, Tegazzin, Vincenzo, Lehane, Mary, O'Halloran, John, Hartung, Edmund, Giblin, Linda M., Lynch, Patrick J., Vaughan, Pat, Censier, Kathrin, Bendixen, Diana, Comi, Giacomo, Heytens, Luc, Monsieurs, Koen, Fagerlund, Tore, Wolz, Werner, Heffron, James J.A., Muller, Clemens R., McCarthy, Tommie V.
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia
Quane, K A, Ording, H, Keating, K E, Manning, B M, Heine, R, Bendixen, D, Berg, K, Krivosic-Horber, R, Lehmann-Horn, F, Fagerlund, T, McCarthy, T V
Published in British journal of anaesthesia : BJA (01.09.1997)
Published in British journal of anaesthesia : BJA (01.09.1997)
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Journal Article
Linkage of Familial Hibernian Fever to Chromosome 12p13
McDermott, Michael F., Ogunkolade, B. William, McDermott, Elizabeth M., Jones, Lisa C., Wan, Ying, Quane, Kathleen A., McCarthy, John, Phelan, Mark, Molloy, Michael G., Powell, Richard J., Amos, Christopher I., Hitman, Graham A.
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies
Quane, K A, Keating, K E, Manning, B M, Healy, J M, Monsieurs, K, Heffron, J J, Lehane, M, Heytens, L, Krivosic-Horber, R, Adnet, P
Published in Human molecular genetics (01.03.1994)
Published in Human molecular genetics (01.03.1994)
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Journal Article
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees
Keating, K E, Quane, K A, Manning, B M, Lehane, M, Hartung, E, Censier, K, Urwyler, A, Klausnitzer, M, Muller, C R, Heffron, J J
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
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Mutation Screening of the RYR1 Gene in Malignant Hyperthermia: Detection of a Novel Tyr to Ser Mutation in a Pedigree with Associated Central Cores
Quane, Kathleen A., Keating, Katherine E., Healy, J.M.Sandra, Manning, Bernadette M., Krivosic-Horber, Renee, Krivosic, I., Monnier, Nicole, Lunardi, Joel, McCarthy, Tommie V.
Published in Genomics (San Diego, Calif.) (01.09.1994)
Published in Genomics (San Diego, Calif.) (01.09.1994)
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Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes
Keating, K E, Giblin, L, Lynch, P J, Quane, K A, Lehane, M, Heffron, J J, McCarthy, T V
Published in Journal of medical genetics (01.04.1997)
Published in Journal of medical genetics (01.04.1997)
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Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever
McDermott, M F, McDermott, E M, Quane, K A, Jones, L C, Ogunkolade, B W, Curtis, D, Waldron-Lynch, F, Phelan, M, Hitman, G A, Molloy, M G, Powell, R J
Published in Journal of medical genetics (01.05.1998)
Published in Journal of medical genetics (01.05.1998)
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Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree
Healy, J M, Quane, K A, Keating, K E, Lehane, M, Heffron, J J, McCarthy, T V
Published in Journal of medical genetics (01.01.1996)
Published in Journal of medical genetics (01.01.1996)
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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
Manning, Bernadette M., Quane, Kathleen A., Lynch, Patrick J., Urwyler, Albert, Tegazzin, Vincenzo, Krivosic-Horber, Renee, Censier, Kathrin, Comi, Giacomo, Adnet, Pascal, Wolz, Werner, Lunardi, Joel, Muller, Clemens R., McCarthy, Tommie V.
Published in Human mutation (1998)
Published in Human mutation (1998)
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Association of NOD2 with Crohn's Disease in a homogenous Irish population
BAIREAD, Emer, HARMON, Dawn L, O'DONOGHUE, Diarmuid, SHANAHAN, Fergus, PARFREY, Nollaig A, QUANE, Kathleen A, CURTIS, Anne M, KELLY, Yvette, O'LEARY, Clare, GARDNER, Michelle, LEAHY, Dermot T, VAUGHAN, Pat, KEEGAN, Denise, O'MORAIN, Colm
Published in European journal of human genetics : EJHG (01.03.2003)
Published in European journal of human genetics : EJHG (01.03.2003)
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Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease
Quane, K A, Keating, K E, Healy, J M, Heffron, J J, Lehane, M, Krivosic-Horber, R, Heytens, L, McCarthy, T V
Published in Biochemical Society transactions (01.05.1995)
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Published in Biochemical Society transactions (01.05.1995)
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