7.013 Preimplantation genetic diagnosis for familial hypercholesterolaemia
نویسندگان
چکیده
منابع مشابه
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing
OBJECTIVES The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, ...
متن کاملGenetic Architecture of Familial Hypercholesterolaemia
PURPOSE OF REVIEW Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS Mutations in any of three genes (LDLR, APO...
متن کاملDiagnosis and treatment of familial hypercholesterolaemia.
Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated with elevated levels of low-density lipoprotein-cholesterol (LDL-C), which can lead to premature cardiovascular disease. Early diagnosis of FH is important to prevent morbidity and mortality. Familial hypercholesterolaemia is usually diagnosed using clinical characteristics, such as family history, and cho...
متن کاملPreimplantation Genetic Diagnosis
Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...
متن کاملPreimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2008
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)61413-7