Results 101 to 110 of about 4,495 (156)

Cockayne syndrome B protein is implicated in transcription and associated chromatin dynamics in homeostatic and genotoxic conditions. [PDF]

Aging Cell
Liakos A, Ntakou-Zamplara KZ, Angelova N, Konstantopoulos D, Synacheri AC, Spyropoulou Z, Tsarmaklis IA, Korrou-Karava D, Nikolopoulos G, Lavigne MD, Fousteri M.   +10 more
europepmc   +1 more source

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause? [PDF]

Mol Syndromol
Bahap Y, Kayhan G.
europepmc   +1 more source

Xeroderma pigmentosum-Cockayne syndrome complex. [PDF]

Indian J Med Res, 2020
Dev N, Aggarwal P.
europepmc   +1 more source

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms. [PDF]

Genes (Basel)
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F.   +17 more
europepmc   +1 more source

Treatment outcomes of cochlear implantation in pediatric patients with Cockayne syndrome type I: a case series. [PDF]

J Surg Case Rep
Kostova M, Banerjee A.
europepmc   +1 more source

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis. [PDF]

Sci Rep
Watanabe D, Okamoto N, Kobayashi Y, Suzuki H, Kato M, Saitoh S, Kanemura Y, Takenouchi T, Yamada M, Nakato D, Sato M, Tsunoda T, Kosaki K, Miya F.   +13 more
europepmc   +1 more source

Cockayne syndrome

, 2013
openaire   +1 more source

Cockayne syndrome in siblings (Clinico-pathological study)

The Turkish Journal of Pediatrics, 1981
E Ozdirim, B Tinaztepe, T Pirnar
doaj  

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models. [PDF]

J Zhejiang Univ Sci B
Wang X, Zheng R, Dukhinova M, Wang L, Shen Y, Lin Z.   +5 more
europepmc   +1 more source