Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.
Published in British journal of dermatology (1951) (01.05.2019)
Published in British journal of dermatology (1951) (01.05.2019)
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Journal Article
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
Kaski, J P, Syrris, P, Burch, M, Tomé-Esteban, M-T, Fenton, M, Christiansen, M, Andersen, P S, Sebire, N, Ashworth, M, Deanfield, J E, McKenna, W J, Elliott, P M
Published in Heart (British Cardiac Society) (01.11.2008)
Published in Heart (British Cardiac Society) (01.11.2008)
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Journal Article
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
Behr, E, Wood, DA, Wright, M, Syrris, P, Sheppard, MN, Casey, A, Davies, MJ, McKenna, W
Published in The Lancet (British edition) (01.11.2003)
Published in The Lancet (British edition) (01.11.2003)
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Journal Article
DSP mutations and arrhythmogenic cardiomyopathy
Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.
Published in British journal of dermatology (1951) (01.05.2019)
Published in British journal of dermatology (1951) (01.05.2019)
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Journal Article
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease
Syrris, Petros, Ward, Deirdre, Asimaki, Angeliki, Evans, Alison, Sen-Chowdhry, Srijita, Hughes, Sian E., McKenna, William J.
Published in European heart journal (01.03.2007)
Published in European heart journal (01.03.2007)
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Journal Article
DSP 突变与致心律失常性心肌病
Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.
Published in British journal of dermatology (1951) (01.05.2019)
Published in British journal of dermatology (1951) (01.05.2019)
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Journal Article
564 Desmosomal Protein Gene Mutations in Patients with Idiopathic Dilated Cardiomyopathy Undergoing Cardiac Transplantation: A Clinicopathological Study
Garcia-Pavia, P, Segovia, J, Syrris, P, Salas, C, Mirelis, J.G, Gomez-Bueno, M, Vilches, C, Cobo-Marcos, M, Garcia-Cosio Carmena, M.D, Avellana, P, Bornstein, B, Elliott, P.M, Alonso Pulpón, L.A
Published in The Journal of heart and lung transplantation (2011)
Published in The Journal of heart and lung transplantation (2011)
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Journal Article
Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy
Sorajja, P, Sweeney, M G, Chalmers, R, Sachdev, B, Syrris, P, Hanna, M, Wood, N D, McKenna, W J, Elliott, P M
Published in Heart (British Cardiac Society) (01.07.2003)
Published in Heart (British Cardiac Society) (01.07.2003)
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Journal Article
Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions
Syrris, P, Murray, A, Carter, N D, McKenna, W M, Jeffery, S
Published in Journal of medical genetics (01.10.2001)
Published in Journal of medical genetics (01.10.2001)
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Journal Article
Genotype influences end-stage heart failure occurrence in dilated cardiomyopathy
Cannie, D, Bakalakos, A, Protonotarios, A, Syrris, P, Lorenzini, M, Guttmann, O, O'mahony, C, Savvatis, K, Lopes, L, Sekhri, N, Mohiddin, S, Elliott, P
Published in European heart journal (09.11.2023)
Published in European heart journal (09.11.2023)
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Journal Article
Disease penetrance in genotype-positive relatives from families with dilated cardiomyopathy
Cannie, D, Syrris, P, Protonotarios, A, Bakalakos, A, Lorenzini, M, Guttmann, O, Lopes, L, O'mahony, C, Sekhri, N, Savvatis, K, Mohiddin, S, Elliott, P
Published in European heart journal (09.11.2023)
Published in European heart journal (09.11.2023)
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Journal Article
The influence of age on the diagnostic yield of genetic testing in dilated cardiomyopathy
Cannie, D.E, Protonotarios, A, Lorenzini, M, Akhtar, M, Syrris, P, Lopes, L, Elliott, P
Published in European heart journal (01.11.2020)
Published in European heart journal (01.11.2020)
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Journal Article
Genetic regulation of myocardial fibrosis in hypertrophic cardiomyopathy
Patel, V, Syrris, P, Coats, C, Lucena, J, Lara-Pezzi, E, Garcia-Pavia, P, Elliott, P M
Published in European heart journal (12.10.2021)
Published in European heart journal (12.10.2021)
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Journal Article
Splicing mutations in KCNQ1 : A mutation hot spot at codon 344 that produces in frame transcripts
MURRAY, A, DONGER, C, SYRRIS, P, AFZAL, A. R, PATTON, M. A, GUICHENEY, P, JEFFERY, S, FENSKE, C, SPILLMAN, I, RICHARD, P, DONG, Y. B, NEYROUND, N, CHEVALIER, P, DENJOY, I, CARTER, N
Published in Circulation (New York, N.Y.) (07.09.1999)
Published in Circulation (New York, N.Y.) (07.09.1999)
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Journal Article
Lack of c-kit mutation in familial urticaria pigmentosa
Rosbotham, J L, Malik, N M, Syrris, P, Jeffery, S, Bedlow, A, Gharraie, S, Murday, V A, Holden, C A, Carter, N D
Published in British journal of dermatology (1951) (01.05.1999)
Published in British journal of dermatology (1951) (01.05.1999)
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Journal Article
X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia
Cannie, D, Syrris, P, Rodriguez-Palomares, J F, Marini-Bettolo, C, Mestroni, L, Parikh, V N, Barriales-Villa, R, Jiminez-Jaimez, J, Garcia-Pavia, P, Charron, P, Biagini, E, Garcia-Pinilla, J M, Savvatis, K, Wahbi, K, Elliott, P M
Published in European heart journal (09.11.2023)
Published in European heart journal (09.11.2023)
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Journal Article
Penetrance of hypertrophic cardiomyopathy and outcome in sarcomeric mutation carriers
Lorenzini, M, Norrish, G, Field, E, Ochoa, J.P, Cicerchia, M, Akhtar, M.M, Syrris, P, Lopes, L.R, Kaski, J.P, Elliott, P.M
Published in European heart journal (01.11.2020)
Published in European heart journal (01.11.2020)
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Journal Article