Relevance of anatomy to medical education and clinical practice: perspectives of medical students, clinicians, and educators
Sbayeh, Amgad, Qaedi Choo, Mohammad A., Quane, Kathleen A., Finucane, Paul, McGrath, Deirdre, O’Flynn, Siun, O’Mahony, Siobhain M., O’Tuathaigh, Colm M. P.
Published in Perspectives on medical education (01.12.2016)
Published in Perspectives on medical education (01.12.2016)
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Journal Article
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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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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Journal Article
Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
McDermott, Michael F, Aksentijevich, Ivona, Galon, Jérôme, McDermott, Elizabeth M, Ogunkolade, B.William, Centola, Michael, Mansfield, Elizabeth, Gadina, Massimo, Karenko, Leena, Pettersson, Tom, McCarthy, John, Frucht, David M, Aringer, Martin, Torosyan, Yelizaveta, Teppo, Anna-Maija, Wilson, Meredith, Karaarslan, H.Mehmet, Wan, Ying, Todd, Ian, Wood, Geryl, Schlimgen, Ryan, Kumarajeewa, Thisum R, Cooper, Sheldon M, Vella, John P, Amos, Christopher I, Mulley, John, Quane, Kathleen A, Molloy, Michael G, Ranki, Annamari, Powell, Richard J, Hitman, Graham A, O’Shea, John J, Kastner, Daniel L
Published in Cell (02.04.1999)
Published in Cell (02.04.1999)
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Journal Article
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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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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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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
HLA linked pre-eclampsia and miscarriage susceptibility gene
KATHLEEN A. QUANE, DAVID M. JENKINS, JOHN BERMINGHAM, MARGARET O'BRIEN, TOMMIE V. MCCARTHY
Year of Publication 11.09.2003
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Year of Publication 11.09.2003
Patent
HLA LINKED PRE-ECLAMPSIA AND MISCARRIAGE SUSCEPTIBILITY GENE
QUANE, KATHLEEN, A, MCCARTHY, TOMMIE, V, JENKINS, DAVID, M, O'BRIEN, MARGARET, BERMINGHAM, JOHN
Year of Publication 06.12.2000
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Year of Publication 06.12.2000
Patent
HLA-koblet pre-eklampsi- og abort-mottagelighetsgen
MCCARTHY, TOMMIE V, QUANE, KATHLEEN A, O'BRIEN, MARGARET, JENKINS, DAVID M, BERMINGHAM, JOHN
Year of Publication 24.10.2000
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Year of Publication 24.10.2000
Patent
Hla linked pre-eclampsia and miscarriage susceptibility gene
KATHLEEN A. QUANE, DAVID M. JENKINS, MARGARET O'BRIEN, JOHN BERMINGHAM, TOMMIE V. MCCARTHY
Year of Publication 15.09.1999
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Year of Publication 15.09.1999
Patent
HLA LINKED PRE-ECLAMPSIA AND MISCARRIAGE SUSCEPTIBILITY GENE
MCCARTHY, TOMMIE V, QUANE, KATHLEEN A, O'BRIEN, MARGARET, JENKINS, DAVID M, BERMINGHAM, JOHN
Year of Publication 02.09.1999
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Year of Publication 02.09.1999
Patent
HLA LINKED PRE-ECLAMPSIA AND MISCARRIAGE SUSCEPTIBILITY GENE
QUANE, KATHLEEN, A, MCCARTHY, TOMMIE, V, JENKINS, DAVID, M, O'BRIEN, MARGARET, BERMINGHAM, JOHN
Year of Publication 02.09.1999
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Year of Publication 02.09.1999
Patent