Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
Merner, Nancy D., Hodgkinson, Kathy A., Haywood, Annika F.M., Connors, Sean, French, Vanessa M., Drenckhahn, Jörg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., Young, Terry-Lynn
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)
Hodgkinson, Kathy A., Parfrey, Patrick S., Bassett, Anne S., Kupprion, Christine, Drenckhahn, Jörg, Norman, Mark W., Thierfelder, Ludwig, Stuckless, Susan N., Dicks, Elizabeth L., McKenna, William J., Connors, Sean P.
Published in Journal of the American College of Cardiology (01.02.2005)
Published in Journal of the American College of Cardiology (01.02.2005)
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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
Abdelfatah, Nelly, Mostafa, Ahmed A., French, Curtis R., Doucette, Lance P., Penney, Cindy, Lucas, Matthew B., Griffin, Anne, Booth, Valerie, Rowley, Christopher, Besaw, Jessica E., Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Hodgkinson, Kathy A., Little, Leichelle A., Agrawal, Sumit, Parnes, Lorne, Batten, Tony, Moore, Susan, Hu, Pingzhao, Pater, Justin A., Houston, Jim, Galutira, Dante, Benteau, Tammy, MacDonald, Courtney, French, Danielle, O’Rielly, Darren D., Stanton, Susan G., Young, Terry-Lynn
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada
Haywood, Annika F M, Merner, Nancy D, Hodgkinson, Kathy A, Houston, Jim, Syrris, Petros, Booth, Valerie, Connors, Sean, Pantazis, Antonios, Quarta, Giovanni, Elliott, Perry, McKenna, William, Young, Terry-Lynn
Published in European heart journal (01.04.2013)
Published in European heart journal (01.04.2013)
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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL
Abdelfatah, Nelly, McComiskey, David A, Doucette, Lance, Griffin, Anne, Moore, Susan J, Negrijn, Carol, Hodgkinson, Kathy A, King, Justin J, Larijani, Mani, Houston, Jim, Stanton, Susan G, Young, Terry-Lynn
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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“There are days I wish it wasn’t there, and there’s days I realize I’m lucky”: A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy
Etchegary, Holly, Pullman, Daryl, Connors, Sean P, Simmonds, Charlene, Young, Terry-Lynn, Hodgkinson, Kathy A
Published in JRSM cardiovascular disease (01.01.2017)
Published in JRSM cardiovascular disease (01.01.2017)
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Intrafamilial variability in cleidocranial dysplasia: a three generation family
Chitayat, D, Hodgkinson, K A, Azouz, E M
Published in American journal of medical genetics (01.02.1992)
Published in American journal of medical genetics (01.02.1992)
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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). Commentary
HODGKINSON, Kathy A, PARFREY, Patrick S, CONNORS, Sean P, WICHTER, Thomas, BREITHARDT, Günter, BASSETT, Anne S, KUPPRION, Christine, DRENCKHAHN, Jörg, NORMAN, Mark W, THIERFELDER, Ludwig, STUCKLESS, Susan N, DICKS, Elizabeth L, MCKENNA, William J
Published in Journal of the American College of Cardiology (2005)
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Published in Journal of the American College of Cardiology (2005)
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Acrania: a manifestation of the Adams-Oliver syndrome
Chitayat, D, Meunier, C, Hodgkinson, K A, Robb, L, Azouz, M
Published in American journal of medical genetics (15.11.1992)
Published in American journal of medical genetics (15.11.1992)
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The provision of genetic counselling for persons with schizophrenia and their relatives
Hodgkinson, Kathy A., Macgregor, David J., Shuman, Cheryl, Bassett, Anne S.
Published in Schizophrenia research (01.04.1995)
Published in Schizophrenia research (01.04.1995)
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Mucolipidosis type IV: clinical manifestations and natural history
Chitayat, D, Meunier, C M, Hodgkinson, K A, Silver, K, Flanders, M, Anderson, I J, Little, J M, Whiteman, D A, Carpenter, S
Published in American journal of medical genetics (01.12.1991)
Published in American journal of medical genetics (01.12.1991)
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Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome
Chitayat, D, Hodgkinson, K A, Chen, M F, Haber, G D, Nakishima, S, Sando, I
Published in American journal of medical genetics (01.08.1992)
Published in American journal of medical genetics (01.08.1992)
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King syndrome: a genetically heterogenous phenotype due to congenital myopathies
Chitayat, D, Hodgkinson, K A, Ginsburg, O, Dimmick, J, Watters, G V
Published in American journal of medical genetics (01.08.1992)
Published in American journal of medical genetics (01.08.1992)
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Syndrome of mental retardation and distal arthrogryposis in sibs
Chitayat, D, Hodgkinson, K A, Blaichman, S, Chen, M E, Watters, G V, Khalife, S, Hall, J G
Published in American journal of medical genetics (01.10.1991)
Published in American journal of medical genetics (01.10.1991)
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