Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Samantha Barratt Ross"'
Autor:
Henrietta Cserne Szappanos, Helena M. Viola, Danica W. Ito, Seakcheng Lim, Melissa Mangala, Mira Holliday, Samantha Barratt Ross, Christopher Semsarian, Adam Hill, Rose E. Dixon, Livia C. Hool
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Familial hypertrophic cardiomyopathy (FHC) patients are advised to avoid strenuous exercise due to increased risk of arrhythmias. Mice expressing the human FHC-causing mutation R403Q in the myosin heavy chain gene (MYH6) recapitulate the hum
Externí odkaz:
https://doaj.org/article/e1010dcf8ddf4f0397cc92001ff5aa96
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 56-59 (2018)
Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood
Externí odkaz:
https://doaj.org/article/52f8d0bdea364c018c14ec3a248ab180
Autor:
Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Melissa Mangala, Adam Hill, Henrietta Cserne Szappanos, Livia Hool, Christopher Semsarian
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 269-273 (2018)
Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy characterized by left ventricular hypertrophy ≥15 mm in the absence of loading conditions. HCM has a prevalence of up to one in 200, and can result in significant adverse outcomes inc
Externí odkaz:
https://doaj.org/article/b3ffde124cee4cf2bb4bb302cafe55c5
Autor:
Samantha Barratt Ross, BMedSci, Richard D. Bagnall, BS, PhD, Laura Yeates, BS, GradDipGenCouns, Raymond W. Sy, MBBS, PhD, FHRS, Christopher Semsarian, MBBS, PhD, MPH, FHRS
Publikováno v:
HeartRhythm Case Reports, Vol 4, Iss 4, Pp 146-151 (2018)
Externí odkaz:
https://doaj.org/article/47b3be4e6ee449818e2cf420b443dadb
Publikováno v:
Stem Cell Research, Vol 20, Iss C, Pp 76-79 (2017)
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM). PBMCs were reprogrammed to a pluripotent state following transfe
Externí odkaz:
https://doaj.org/article/16033209bf174742a01d340c877d4fa9
Publikováno v:
Stem Cell Research, Vol 20, Iss C, Pp 88-90 (2017)
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the whole blood of a 43-year-old male with hypertrophic cardiomyopathy (HCM) who carries the pathogenic variant p.Val698Ala in beta-my
Externí odkaz:
https://doaj.org/article/41e8e449b0d14fc88439ed6cf5716963
Autor:
Seakcheng Lim, Melissa M. Mangala, Mira Holliday, Henrietta Cserne Szappanos, Samantha Barratt-Ross, Serena Li, Jordan Thorpe, Whitney Liang, Ginell N. Ranpura, Jamie I. Vandenberg, Christopher Semsarian, Adam P. Hill, Livia C. Hool
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/0597755221d841338cbe98d8ace2eb4a
Autor:
Jodie Ingles, Jason C. Kovacic, Samantha Barratt Ross, Sally L. Dunwoodie, Christopher Semsarian, Richard D. Bagnall
Publikováno v:
Journal of the American College of Cardiology. 77:2517-2530
Our understanding of the genetic basis of cardiovascular diseases (CVDs) has evolved rapidly. This has resulted from a combination of dedicated research in well phenotyped CVD patients, the sequencing of the human genome, and the ready accessibility
Autor:
J. Skinner, Robert G. Weintraub, Emma S. Singer, Samantha Barratt Ross, Christopher Semsarian, Richard D. Bagnall, Jodie Ingles
Publikováno v:
Genetics in Medicine. 23:86-93
Copy-number variant (CNV) analysis is increasingly performed in genetic diagnostics. We leveraged recent gene curation efforts and technical standards for interpretation and reporting of CNVs to characterize clinically relevant CNVs in patients with
A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults
Autor:
Kevin McGeechan, Katherine Jones, Rajesh Puranik, Christopher Semsarian, Bianca Blanch, Alexandra Barratt, Samantha Barratt Ross
Publikováno v:
European Heart Journal. 41:1428-1436
Aims To assess the reported prevalence of left ventricular non-compaction (LVNC) in different adult cohorts, taking in to consideration the role of diagnostic criteria and imaging modalities used. Methods and results A systematic review and meta-anal