Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Alexander C. Bertalovitz"'
Autor:
Mariana Burgos Angulo, Jiajia Yang, Mariana A. Argenziano, Alexander C. Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102399- (2021)
Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the
Externí odkaz:
https://doaj.org/article/e3d97582025a47539054298a73344460
Autor:
Mariana A. Argenziano, Mariana Burgos Angulo, Maliheh Najari Beidokhti, Jiajia Yang, Alexander C. Bertalovitz, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102394- (2021)
Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the
Externí odkaz:
https://doaj.org/article/53a328455f8f4087bd2d5261e756126e
Autor:
Alexander C. Bertalovitz, Weizhen Ji, Thomas V. McDonald, Jorge McCormack, Emily Sempou, Lauren Jeffries, Maliheh Najari Beidokhti, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
Molecular Genetics and Genomics. 296:823-836
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific tar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8489dbea349d4f926c15d875ebc3eec5
https://doi.org/10.1007/s00438-021-01780-3
https://doi.org/10.1007/s00438-021-01780-3
Publikováno v:
Stem Cell Research, Vol 54, Iss, Pp 102398-(2021)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2c97c62e54b0f102fa2144eda741d6a
http://www.sciencedirect.com/science/article/pii/S1873506121002440
http://www.sciencedirect.com/science/article/pii/S1873506121002440
Autor:
Mariana Argenziano, Maliheh Najari Beidokhti, Alexander C. Bertalovitz, Mariana Burgos Angulo, Thomas V. McDonald, Jiajia Yang
Publikováno v:
Stem Cell Research, Vol 54, Iss, Pp 102396-(2021)
Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b582b22cbb7342280a2d1c329065d6
https://pubmed.ncbi.nlm.nih.gov/34029931
https://pubmed.ncbi.nlm.nih.gov/34029931
Autor:
Jiajia Yang, Mariana Argenziano, Maliheh Najari Beidokhti, Thomas V. McDonald, Mariana Burgos Angulo, Alexander C. Bertalovitz
Publikováno v:
Stem Cell Research, Vol 53, Iss, Pp 102394-(2021)
Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d6099c26c892bfb5ec8456950560e3
https://pubmed.ncbi.nlm.nih.gov/34088019
https://pubmed.ncbi.nlm.nih.gov/34088019
Autor:
Jiajia Yang, Mariana Argenziano, Mariana Burgos Angulo, Alexander C. Bertalovitz, Thomas V. McDonald
Publikováno v:
Circulation. 142
Introduction: Cardiovascular disease (CVD) is the leading cause of death among women. Epidemiologic studies indicate that pre-menopausal women are protected against the development of CVD when compared to age-matched men. Women show less cardiac remo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76056022fdccb007b44c0f0cb0c01c16
https://doi.org/10.1161/circ.142.suppl_3.13453
https://doi.org/10.1161/circ.142.suppl_3.13453
Autor:
Mariana Argenziano, Thomas V. McDonald, Jiajia Yang, Alexander C. Bertalovitz, Mariana Burgos Angulo
Publikováno v:
Circulation. 142
Introduction: Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disorder that affects 1:500 individuals and represents one of the main causes of sudden cardiac death in young adults. Several mutations have been associated with HCM, including MYH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::024d8d6eec5cfd584776540945340678
https://doi.org/10.1161/circ.142.suppl_3.13599
https://doi.org/10.1161/circ.142.suppl_3.13599
Autor:
Maliheh, Najari Beidokhti, Alexander C, Bertalovitz, Weizhen, Ji, Jorge, McCormack, Lauren, Jeffries, Emily, Sempou, Mustafa K, Khokha, Thomas V, McDonald, Saquib A, Lakhani
Publikováno v:
Molecular genetics and genomics : MGG. 296(4)
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific tar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c6b9d54785c95c27673a5857b2ada60
https://pubmed.ncbi.nlm.nih.gov/33876311
https://pubmed.ncbi.nlm.nih.gov/33876311
Publikováno v:
Journal of Cardiovascular Electrophysiology. 28:1070-1082
Introduction Genetic mutations in KCNQ2 which encodes hERG, the alpha subunit of the potassium channel responsible for the IKr current, cause Long QT Syndrome, an inherited cardiac arrhythmia disorder. Electrophysiology techniques are used to correla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddea08c29b7fc0b9f2b2b0626e53dfaa
https://doi.org/10.1111/jce.13259
https://doi.org/10.1111/jce.13259