PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
Some of the papers are free to read; others require subscriptions.
18 April 2019
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing.
Mol Genet Genomic Med. 2019 Apr 16;:e690
Authors: Wang T, Xuan Z, Dou Y, Liu Y, Fu Y, Ren J, Lu L
BACKGROUND: Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could
Usher syndrome in a patient with Ellis-van Creveld syndrome.
Eur J Ophthalmol. 2019 Apr 16;:1120672119841778
Authors: Romano F, Albertini GC, Arrigo A, Leone PP, Bandello F, Battaglia Parodi M
PURPOSE: To describe a case of Ellis-van Creveld syndrome with
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
J Hum Genet. 2019 May;64(5):409-419
Authors: Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC
Autosomal Dominant Polycystic Kidney Disease