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- 1From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedCongenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong genetic component. We analyzed data from 223 consecutively ascertained families, each consisting of at least one child...
- 2From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedElevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and...
- 3From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedPlatelets are enucleated cell fragments derived from megakaryocytes that play key roles in hemostasis and in the pathogenesis of atherothrombosis and cancer. Platelet traits are highly heritable and identification of...
- 4From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedHaptoglobin, coded by the HP gene, is a plasma protein that acts as a scavenger for free heme, and haptoglobin-related protein (coded by the HPR gene) forms part of the trypanolytic factor TLF-1, together with...
- 5From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedTooth agenesis is the most common developmental dental anomaly. Absence of one or two permanent teeth is found in the majority of affected subjects. Very few patients suffer severe tooth agenesis. Recent studies...
- 6From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedThe majority of the human genome is transcribed but not translated, giving rise to noncoding RNAs (ncRNAs), including long ncRNAs (lncRNAs, > 200 nt) that perform a wide range of functions in gene regulation. The...
- 7From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedLate-onset Alzheimer's disease (LOAD) is known to have a complex, oligogenic etiology, with considerable genetic heterogeneity. We investigated the influence of genetic interactions between genes in the Alzheimer's...
- 8From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedThe rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is...
- 9From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedThe Human Gene Mutation Database (HGMD[R]) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over...
- 10From: Human Genetics. (Vol. 133, Issue 1) Peer-ReviewedProteoglycan (PG) synthesis begins with the sequential addition of a "linker chain", made up of four sugar residues, to a specific region of a core protein. Defects in the enzymes catalyzing steps two to four of the...