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Genomic frontiers in congenital heart disease
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - ahajournals.org
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
HJ Cordell, Y Han, GF Mells, Y Li… - Nature …, 2015 - nature.com
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective
immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data …
immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data …
[HTML][HTML] Molecular genetics and complex inheritance of congenital heart disease
Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot
DJ Page, MJ Miossec, SG Williams… - Circulation …, 2019 - ahajournals.org
Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …
[책][B] Veterinary embryology
TA McGeady, PJ Quinn, ES Fitzpatrick, MT Ryan… - 2017 - books.google.com
Veterinary Embryology, 2nd Edition, has been updated to reflect the many changes that
have developed in the field; the text has been fully revised and expanded and is now in full …
have developed in the field; the text has been fully revised and expanded and is now in full …
Advances in the genetics of congenital heart disease: a clinician's guide
Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding;
however, many questions, particularly those relating to sporadic forms of disease, remain …
however, many questions, particularly those relating to sporadic forms of disease, remain …
Complex genetics and the etiology of human congenital heart disease
BD Gelb, WK Chung - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Congenital heart disease (CHD) is the most common birth defect. Despite considerable
advances in care, CHD remains a major contributor to newborn mortality and is associated …
advances in care, CHD remains a major contributor to newborn mortality and is associated …
Congenital heart disease risk loci identified by genome-wide association study in European patients
H Lahm, M Jia, M Dreßen, F Wirth, N Puluca… - The Journal of clinical …, 2021 - jci.org
Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but
still remain ill defined. We sought to identify genetic risk factors associated with CHD and to …
still remain ill defined. We sought to identify genetic risk factors associated with CHD and to …
Of mice and men: molecular genetics of congenital heart disease
TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …
which may be caused by multiple genetic and environmental factors. Studies in human …