Results 241 to 250 of about 12,876 (273)
Some of the next articles are maybe not open access.
Ciliopathy: Bardet-Biedl Syndrome
2018Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present.
Stephen H, Tsang +2 more
openaire +2 more sources
Ciliopathy: Senior-Løken Syndrome
2018Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.1 and 34.2). Onset of photophobia, nystagmus, and hyperopia can occur in the first few years of life or later in childhood.
Stephen H, Tsang +2 more
openaire +2 more sources
Ciliopathy: Sjögren-Larsson Syndrome
2018Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism.
Stephen H, Tsang +2 more
openaire +2 more sources
Renal Pathology of Ciliopathies
Pediatric and Developmental PathologyRenal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension.
Thivya, Sekar, Neil J, Sebire
openaire +2 more sources
Abstract Ciliopathies refer to a collection of disorders caused by defects in the formation or function of the primary cilium. The clinical manifestations of ciliopathies are broadly overlapping, yet highly variable. Syndromic ciliopathies, including Bardet-Biedl syndrome (BBS), Joubert syndrome (JBTS), Usher syndrome, and Senior-Løken ...
openaire +1 more source
openaire +1 more source
Nephronophthisis-Related Ciliopathies.
2023Item does not contain ...
Stokman, M.F., Lilien, M., Knoers, N.
openaire +1 more source
Genes and molecular pathways underpinning ciliopathies
Nature Reviews Molecular Cell Biology, 2017Jeremy F Reiter, Michel R Leroux
exaly