Results 171 to 180 of about 10,371 (225)

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

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

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B. [PDF]

Genes (Basel), 2021
Zayoud K, Kraoua I, Chikhaoui A, Calmels N, Bouchoucha S, Obringer C, Crochemore C, Najjar D, Zarrouk S, Miladi N, Laugel V, Ricchetti M, Turki I, Yacoub-Youssef H.   +13 more
europepmc   +1 more source

Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome

, 2006
Theo G. M. F. Gorgels, Ingrid van der Pluijm, Renata M. C. Brandt, George A. Garinis, Harry van Steeg, Gerard van den Aardweg, Gerard H. Jansen, Jan M. Ruijter, Arthur A. Bergen, Dirk van Norren, Jan H.J. Hoeijmakers, Gijsbertus T. J. van der Horst   +11 more
openalex   +1 more source

Retraction for Nouspikel et al., A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function

, 2006
Solomon H. Snyder
openalex   +1 more source

Enhanced Adenosine Triphosphate Release From the Urothelium of Patients With Painful Bladder Syndrome:A Possible Pathophysiological Explanation [PDF]

, 2007
Chapple, Christopher R., Chess-Williams, Russell, Kumar, Vivek, Surprenant, Ann Marie   +3 more
core   +1 more source

HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B. [PDF]

Cell Mol Life Sci
Kapr J, Scharkin I, Ramachandran H, Westhoff P, Pollet M, Dangeleit S, Brockerhoff G, Rossi A, Koch K, Krutmann J, Fritsche E.   +10 more
europepmc   +1 more source

Immunofluorescence studies to dissect the impact of Cockayne syndrome A alterations on the protein interaction and cellular localization. [PDF]

J Genet Eng Biotechnol, 2021
Ghit A.
europepmc   +1 more source

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape. [PDF]

Pediatr Dermatol, 2021
Oska SR, Tamura D, Blau JE, Khan SG, Kraemer KH, DiGiovanna JJ.   +5 more
europepmc   +1 more source

Doubled lifespan and patient‐like pathologies in progeria mice fed high‐fat diet [PDF]

, 2019
Albert, Carolyn J, Baldan, Angel, Bedia-Diaz, Gonzalo, Billon, Cyrielle, Burris, Thomas P, Butler, Andrew A, Ford, David A, Gonzalo, Susana, Kreienkamp, Ray, McBride-Gagyi, Sara, Toth, Zacharie   +10 more
core   +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