| Year | Publication |
|---|
| (2003) | 'Association of NOD2 with Crohn's disease in a homogenous Irish population'
Bairead E, Harmon DL, Curtis AM, Kelly Y, O'Leary C, Gardner M, Leahy DT, Vaughan P, Keegan D, O'Morain C, O'Donoghue D, Shanahan F, Parfrey NA, Quane KA.; (2003) 'Association of NOD2 with Crohn's disease in a homogenous Irish population'. European Journal of Human Genetics, 11 (3):237-244 [Details] |
| (2003) | 'Association of NOD2 with Crohn¿s Disease in a homogeneous Irish population'
Bairead E, Harmon DL, Curtis AM, Kelly Y, O¿Leary C, Gardner M, Leahy DT, Vaughan P, Keegan D, O¿Morain C, O¿Donoghue D, Shanahan F, Parfrey NA, and Quane KA; (2003) 'Association of NOD2 with Crohn¿s Disease in a homogeneous Irish population'. European Journal of Human Genetics, 11 :237-244 [Details] |
| (2000) | 'Ryanodine receptor mutations in malignant hyperthermia and central core disease'
McCarthy, TV; Quane, KA; Lynch, PJ; (2000) 'Ryanodine receptor mutations in malignant hyperthermia and central core disease'. 15 (*):410-417 [Details] |
| (2000) | 'Ryanodine receptor mutations in malignant hyperthermia and central core disease'
McCarthy TV, Quane KA, Lynch PJ; (2000) 'Ryanodine receptor mutations in malignant hyperthermia and central core disease'. Human Mutation, 15 (5):410-417 [DOI] [Details] |
| (1998) | 'Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation'
Manning, BM; Quane, KA; Ording, H; Urwyler, A; Tegazzin, V; Lehane, M; O'Halloran, J; Hartung, E; Giblin, LM; Lynch, PJ; Vaughan, P; Censier, K; Bendixen, D; Comi, G; Hytens, L; Monsieurs, K; Fagerlund, T; Wolz, W; Heffron, JJ; Muller, CR; McCarthy, TV.; (1998) 'Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation'. American Journal of Human Genetics, 62 (3):599-609 [Details] |
| (1998) | 'Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia'
Manning, BM; Quane, KA; Lynch, PJ; Urwyler, A; Tegazzin, V; Krivosic-Horber, R; Censier, K; Comi, G; Adnet, P; Wolz, W; Lunardi, J, Muller, CR; McCarthy, TV; (1998) 'Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia'. 11 (1):45-50 [Details] |
| (1998) | 'Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation'
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV; (1998) 'Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation'. American Journal of Human Genetics, 62 (3):599-609 [DOI] [Details] |
| (1998) | 'Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia'
Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV; (1998) 'Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia'. Human Mutation, 11 (1):45-50 [DOI] [Details] |
| (1997) | '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, KE; Giblin, L; Lynch, PJ; Quane, KA; Lehane, M; Heffron, JJ; McCarthy, TV; (1997) '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'. Journal of Medical Genetics, 34 (4):291-296 [Details] |
| (1997) | 'Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia'
Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy TV; (1997) 'Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia'. British Journal of Anaesthesia, 79 (3):332-337 [Details] |
| (1997) | '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 KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV; (1997) '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'. Gene, 34 (4):291-296 [Details] |
| (1996) | 'Diagnosis of malignant hyperthermia: a comparison of the invitro contracture test with the molecular genetic diagnosis in a large pedigree'
Healy, JM; Quane, KA; Keating, KE; Lehane, M; Heffron, JJA; McCarthy, TV; (1996) 'Diagnosis of malignant hyperthermia: a comparison of the invitro contracture test with the molecular genetic diagnosis in a large pedigree'. Journal of Medical Genetics, 33 (*):18-24 [Details] |
| (1996) | 'Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree'
Healy JM, Quane KA, Keating KE, Lehane M, Heffron JJ, McCarthy TV; (1996) 'Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree'. Gene, 33 (1):18-24 [Details] |
| (1995) | 'Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease'
Quane KA, Keating KE, Healy JM, Heffron JJ, Lehane M, Krivosic-Horber R, Heytens L, McCarthy TV; (1995) 'Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease'. Biochemical Society Transactions, 23 (2) [Details] |
| (1994) | 'Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies'
Quane, KA; Keating, KE; Manning, BM; Healy, JMS; Monsieurs, K; Heffron, JJA; Lehane, M; Hyetens, L; Krisosic-Horber, R; Adnet, P; Ellis, FR; Monnier, N; Lunardi, J; McCarthy, TV.; (1994) 'Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies'. Human Molecular Genetics, 3 (*):471-476 [Details] |
| (1994) | '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 KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV; (1994) '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):236-239 [DOI] [Details] |
| (1994) | 'Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees'
Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ; (1994) 'Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees'. Gene, 3 (10):1855-1858 [Details] |
| (1994) | 'Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies'
Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P; (1994) 'Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies'. Gene, 3 (3):471-476 [Details] |
