ahajournals.org18d
Systematic Review, Meta-Analysis, and Population Study to Determine the Biologic Sex Ratio in Dilated Cardiomyopathy
Studies were excluded if they (1) were identified to be unrelated to DCM, (2) described in vitro functional studies, (3) included pediatric, syndromic, X-linked, mitochondrial, or autosomal recessive ...
jmg.bmj19d
Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation
1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...
jmg.bmj19d
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
They resulted in a recessive form of type 2 Stickler syndrome characterised ... exhibiting only mild age related vitreous syneresis. The pedigree is illustrated in figure 1. Mutations in exon 9 ...
Frontiers1y
Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of ...
Frontiers5y
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
It is reported that almost 80% of NSHL cases involve autosomal-recessive inheritance with high genetic heterogeneity ... Most families with ARNSHL have small-sized pedigrees with an affected sib pair, ...