Track topics on Twitter Track topics that are important to you
[This corrects the article
This article was published in the following journal.
Name: PLoS computational biology
This study assessed adult survival and morbidity patterns in patients who underwent atrial correction according to Mustard or Senning for transposition of the great arteries (TGA).
Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Ch...
The aim of this study was to determine prognostic factors in pediatric patients with short bowel syndrome and very short bowel syndrome (defined as less than 25 cm of the bowel with or without colon)....
Short sleep may be a risk factor for atrial fibrillation. However, previous investigations have been limited by lack of objective sleep measurement and small sample size. We sought to determine the as...
To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mu...
The combined pulmonary fibrosis and emphysema syndrome (CPFE) individualized by our group in 2005 is characterized by an often severe dyspnea, almost exclusive male predominance, and often...
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13]. There are currently 3 main...
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome. This neurodevelopmental disorder is characterized by ...
Endoscopic correction of VUR has gained its popularity due to its less invasiveness, associated low morbidity and short hospital stay. Although short term follow-up had justified their eff...
RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved i...
A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
A form of ventricular pre-excitation characterized by a short PR interval and a normal QRS complex. In this syndrome, the atrial impulse conducts via the James fibers which connect the atrium to BUNDLE OF HIS bypassing the upper ATRIOVENTRICULAR NODE. HEART VENTRICLES are depolarized normally through the His-Purkinje system.
Impaired or delayed impulse conduction between the right and left HEART ATRIA. Advanced interatrial blocks are often associated with arrhythmias (e.g., ATRIAL FLUTTER; and ATRIAL FIBRILLATION), direct conduction block via the Bachmann's bundle and concomitant left atrial enlargement. Syndrome of advanced interatrial block associated with SUPRAVENTRICULAR TACHYCARDIA is referred to as Bayes syndrome.
A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).