Results 81 to 90 of about 330,544 (344)

The views of young people with congenital cardiac disease on designing the services for their treatment [PDF]

, 2003
Background and purpose: There is little documented evidence of young people with congenital cardiac disease being consulted as to what help, if any, they really need in relation to their condition. Most research concentrates on the medical aspects of the
Kendall, L., Lewin, R., Parsons, J.M., Sloper, P.   +3 more
core   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Outcome of adult congenital heart disease patients undergoing cardiac surgery: clinical experience of dr. Sardjito hospital

BMC Proceedings, 2019
Background Patients with congenital heart disease require surgery to correct the cardiac defect they had in order to prevent heart failure. Unfortunately, data regarding outcome of adult CHD in Indonesia is still limited.
Juni Kurniawaty, Yunita Widyastuti
doaj   +1 more source

Atrial Fibrillation-Induced Cardiac Shock: First Manifestation of a Congenitally Corrected Transposition of the Great Arteries in a 45-Year-Old Man [PDF]

, 2012
Background. The congenitally corrected transposition of the great arteries (L-TGA) is a very rare congenital heart defect, which often remains undetected for several decades of life. Case Presentation. We report on a 45-year-old man without prior history
J. Torzewski, M. Graf, M. Zaczkiewicz, O. Zimmermann   +3 more
core   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, سعادتی, حکیمه, علی پور, رقیه, عیسی زاده فر, خاطره, میرزا رحیمی, مهرداد   +5 more
core  

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies. [PDF]

, 2017
Control of organellar assembly and function is critical to eukaryotic homeostasis and survival. Gle1 is a highly conserved regulator of RNA-dependent DEAD-box ATPase proteins, with critical roles in both mRNA export and translation.
Akef, Abdalla, Jao, Li-En, Wente, Susan R   +2 more
core   +1 more source

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Nature Genetics, 2013
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal ...
H. Cordell, J. Bentham, A. Töpf, D. Zélénika, S. Heath, Chrysovalanto Mamasoula, C. Cosgrove, G. Blue, J. Granados-Riverón, Kerry Setchfield, Chris Thornborough, J. Breckpot, Rachel Soemedi, Ruairidh Martin, T. Rahman, D. Hall, K. Engelen, A. Moorman, A. Zwinderman, P. Barnett, T. Koopmann, M. Adriaens, A. Varró, A. George, C. D. Remedios, N. Bishopric, C. Bezzina, J. O’Sullivan, M. Gewillig, F. Bu'Lock, D. Winlaw, S. Bhattacharya, K. Devriendt, J. Brook, B. Mulder, S. Mital, A. Postma, G. Lathrop, M. Farrall, J. Goodship, B. Keavney, B. Keavney   +41 more
semanticscholar   +1 more source