Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders,
characterized by death of the retinal photoreceptor cells, leading to progressive visual …

Genetics and the Behavior of Domestic Animals, Third Edition offers the latest and most
valuable information on animal science and behavioral genetics, carrying on the book's …

Schizophrenia genome-wide association studies (GWAS) have identified common SNPs,
rare copy number variants (CNVs) and a large polygenic contribution to illness risk, but …

Studying ciliopathies, like the Bardet-Biedl syndrome (BBS), allow the identification of
signaling pathways potentially involved in common diseases, sharing phenotypic features …

PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation
carriers are blind, while others are asymptomatic. We identify the major molecular cause of …

Background Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin
disorder characterised by numerous hyperkeratotic papules irregularly distributed on the …

Purpose To identify the underlying genetic defect for non-syndromic autosomal dominant
retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family. Methods …

The wealth and diversity of neuroscience research are inherent characteristics of the
discipline that can give rise to some complications. As the field continues to expand, we …

Point mutations in a cis-regulatory element of Sonic Hedgehog are frequently associated
with preaxial polydactyly in humans, mice, and cats. The Hemingway mutant in the Maine …

Objective As structural variations may underpin susceptibility to complex neurodegenerative
diseases such as amyotrophic lateral sclerosis (ALS), the objective of this study was to …