Results 171 to 180 of about 2,256,617 (260)

Infantile onset of Cockayne syndrome in two siblings

, 2008
Prerna Batra, Abhijeet Saha, Ashok Kumar
openalex   +1 more source

Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene

, 2021
Soraia Martins, Inken Hacheney, Nadine Teichweyde, Barbara Hildebrandt, Jean Krutmann, Andrea Rossi   +5 more
openalex   +1 more source

A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family. [PDF]

Front Genet
Ding F, Hou F, Zhao B, Jin H.
europepmc   +1 more source

Síndrome de Cockayne: relato de dois casos = Cockayne’s syndrome: report of two cases

, 2012
Catarina T. do Amaral Resende, Fátima Simões   +1 more
openalex   +1 more source

Disruption of the Cockayne Syndrome B Gene Impairs Spontaneous Tumorigenesis in Cancer-Predisposed Ink4a/ARF Knockout Mice

, 2001
Yi Lu, Hanzhou Lian, Prerna Sharma, Nicole Schreiber‐Agus, Robert G. Russell, Lynda Chin, Gijsbertus T. J. van der Horst, David B. Bregman   +7 more
openalex   +1 more source

Transcription-Coupled Repair of 8-oxoguanine: Requirement for XPG, TFIIH, and CSB and Implications for Cockayne Syndrome [PDF]

, 2005
Florence Le Page, Ely Kwoh, Anna V. Avrutskaya, A. Gentil, Steven A. Leadon, Alain Sarasin, Priscilla K. Cooper   +6 more
openalex   +1 more source

Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis. [PDF]

Cell Death Differ
Pekhale K, Tiwari V, Hussain M, Bridges CC, Croteau DL, Levi M, Rosenberg AZ, Santo B, Yang X, Kulikowicz T, Wang XX, Lee JH, Bohr VA.   +12 more
europepmc   +1 more source

Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report.

European Journal of Medical Genetics, 2021
Thomas Hunaut, Camille Boulagnon-Rombi, Hugo Thorn, M. Doco‐Fenzy, G. Thiéfin   +4 more
semanticscholar   +1 more source

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family. [PDF]

Front Genet
He X, Zhang Y, Huang X, Qiu P, Ji H, Ding L, Shi Y, Huang Y, Li P, Mei L.   +9 more
europepmc   +1 more source

Airway management in a patient with Cockayne syndrome. [PDF]

Anaesth Rep
Aldridge D, Wisely N.
europepmc   +1 more source