Zobrazeno 1 - 10
of 699
pro vyhledávání: '"cascade screening"'
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we
Externí odkaz:
https://doaj.org/article/2cff59b63a47472e84f5a9a26dbc5cae
Autor:
E. G. Hallgrímsdóttir, H. Svansson, V. F. Stefánsdóttir, Ó. Á. Sveinsson, H. Ólafsdóttir, E. Briem, S. Sveinbjörnsdóttir, J. J. Jónsson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the DMPK gene. Methods This retrospective, cohort study in Iceland assessed prevalence of DM1, molecular
Externí odkaz:
https://doaj.org/article/689629830b284b3797fd5c8cb0a606d0
Autor:
Urte Aliosaitiene, Zaneta Petrulioniene, Egidija Rinkuniene, Antanas Mainelis, Egle Brazdziuniene, Urte Smailyte, Vaida Sileikiene, Aleksandras Laucevicius
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)
Abstract Background Familial hypercholesterolemia (FH) is one of the most common autosomal dominant diseases. FH causes a lifelong increase in low-density lipoprotein cholesterol (LDL-C) levels, which in turn leads to atherosclerotic cardiovascular d
Externí odkaz:
https://doaj.org/article/47af5d75ae8b4174977415e5a92ade82
Autor:
Christina Johnson, Jinbo Chen, Mary P. McGowan, Eric Tricou, Mary Card, Amy R. Pettit, Tamar Klaiman, Daniel J. Rader, Kevin G. Volpp, Rinad S. Beidas
Publikováno v:
Implementation Science, Vol 19, Iss 1, Pp 1-18 (2024)
Abstract Background Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American pe
Externí odkaz:
https://doaj.org/article/f9e85d4e0ec442f9871d3608ee5ee6c0
Autor:
J.P.S. Sawhney, Kushal Madan
Publikováno v:
Indian Heart Journal, Vol 76, Iss , Pp S108-S112 (2024)
Familial hypercholesterolemia is a common genetic disorder of autosomal inheritance associated with elevated LDL-cholesterol. It is estimated to affect 1:250 individuals in general population roughly estimated to be 5 million in India. The prevalence
Externí odkaz:
https://doaj.org/article/8ce9417d5db74ea28d2c3019dd98d846
Autor:
Winfried März, Nina Schmidt, Ira an Haack, Alexander Dressel, Tanja B. Grammer, Marcus E. Kleber, Andrea Baessler, F. Ulrich Beil, Ioanna Gouni-Berthold, Ulrich Julius, Ursula Kassner, Julius L. Katzmann, Gerald Klose, Christel König, Wolfgang Koenig, Ann-Cathrin Koschker, Ulrich Laufs, Martin Merkel, Britta Otte, Klaus G. Parhofer, Wibke Hengstenberg, Heribert Schunkert, Ksenija Stach-Jablonski, Elisabeth Steinhagen-Thiessen, Christoph B. Olivier, Harry Hahmann, Stefan Krzossok, Anja Vogt, Dirk Müller-Wieland, Ulrike Schatz
Publikováno v:
Atherosclerosis Plus, Vol 53, Iss , Pp 6-15 (2023)
Background and aims: Familial hypercholesterolemia (FH) is among the most common genetic disorders in primary care. However, only 15% or less of patients are diagnosed, and few achieve the goals for low-density lipoprotein cholesterol (LDL-C). In thi
Externí odkaz:
https://doaj.org/article/44abb781f75e4c768e1caf7b413b15bf
Publikováno v:
Евразийский Кардиологический Журнал, Vol 0, Iss 2, Pp 26-37 (2023)
Purpose. To study the diagnostic value of cascade family screening and the spectrum of genetic variants in patients with familial and sporadic DCM, assess clinical outcomes and comparative analysis of 5-year event-free survival.Materials and methods.
Externí odkaz:
https://doaj.org/article/f8d78ffeb2f8466faee925185dd3f873
Autor:
Lauren Passero, Swetha Srinivasan, Mary E. Grewe, Jennifer Leeman, Jonathan Berg, Daniel Reuland, Megan C. Roberts
Publikováno v:
BMC Health Services Research, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background Lynch syndrome is an underdiagnosed hereditary condition carrying an increased lifetime risk for colorectal and endometrial cancer and affecting nearly 1 million people in the United States. Cascade screening, systematic screening
Externí odkaz:
https://doaj.org/article/7c763cb608554b7584018d8b91b46816
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