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Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease
Objectives. The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of… Expand
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
Mutations in the zinc finger transcription factor ZIC3 cause X-linked heterotaxy and have also been identified in patients with isolated congenital heart disease (CHD). To determine the relative… Expand
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
- Khalid A. Fakhro, Murim Choi, +5 authors M. Brueckner
- Biology, Medicine
- Proceedings of the National Academy of Sciences
- 31 January 2011
Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in… Expand
Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy
Background— Dystrophin gene mutations cause 2 common muscular dystrophies, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Both are frequently associated with dilated… Expand
A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.
X-linked heterotaxy (HTX1) is a rare developmental disorder characterized by disturbances in embryonic laterality and other midline developmental field defects. HTX1 results from mutations in ZIC3, a… Expand
The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo
The formation of the anterior visceral endoderm (AVE) in the pre-gastrulation mouse embryo represents a crucial event in patterning of the anterior-posterior axis. Here, we show that the transforming… Expand
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
NODAL and its signaling pathway are known to play a key role in specification and patterning of vertebrate embryos. Mutations in several genes encoding components of the NODAL signaling pathway have… Expand
Disorders of left–right asymmetry: Heterotaxy and situs inversus
Cilia function is critical to the development of proper organ laterality. Primary ciliary dyskinesia (PCD) causes randomization of situs. Heterotaxy, or situs ambiguus, is an abnormal arrangement of… Expand
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline
- A. Shapiro, S. Davis, +27 authors V. Lavergne
- American journal of respiratory and critical care…
- 15 June 2018
Background: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians investigating adult… Expand
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart… Expand