Results 61 to 70 of about 4,495 (156)

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

The role of Cockayne Syndrome Protein B in transcription regulation

Genomics Data, 2014
We investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role.
Jieun Jeong
doaj   +1 more source

Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

Genetics and Molecular Biology, 2000
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance.
Simone M. Karam, Jaderson C. Costa, Laura Jardim, Ricardo F. Pires, Alan R. Lehmann, Roberto Giugliani   +5 more
doaj   +1 more source

Occupational Therapy in Cockayne Syndrome: A Case Report

Journal of Modern Rehabilitation, 2017
Introduction: Cockayne syndrome is a rare and autosomal recessive neurodevelopmental disorder characterized by symptoms such as progressive neurological disorder, photosensitivity, visual disturbances, microcephaly, premature aging, and birdlike nose ...
Marzieh Pashmdarfard
doaj  

Evaluation of Patients with Cockayne Syndrome

The Journal of Pediatric Academy
Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical
Hamit Acer, Gül Demet Özçora, Mehmet Canpolat, Muhammet Ensar Doğan, Zehra Filiz Kahraman, Sefer Kumandaş   +5 more
doaj   +1 more source

COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY [PDF]

Acta Medica Iranica, 1999
The clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with Cockayne syndrome are described. The main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and
M. Mohammadi
doaj   +1 more source

Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

Annals of Indian Academy of Neurology, 2004
We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and ...
Ashraff V V, Sinha S, Hegde Sridevi, Kovoor JME, Arunodaya G R, Taly A B   +5 more
doaj  

A Case With Renal Failure, Hearing Loss and Double Ureters

Turkish Journal of Nephrology, 2019
In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR, Gülsüm ÖZKAN, Semih GÜL, Murat KAPUSUZ, Ümit ÇOBANOĞLU, Polat KOŞUCU, Şükrü ULUSOY   +6 more
doaj  

Cockayne syndrome type III: A rare case with musculoskeletal and ophthalmic abnormalities with a literature review

Indian Journal of Ophthalmology. Case Reports
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive neurological and physical degeneration, including growth failure, photosensitivity, and ocular abnormalities.
Jenil N Sheth, Hardik Nanavati, Somasheila Murthy   +2 more
doaj   +1 more source

Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks. [PDF]

Mov Disord Clin Pract, 2023
Gültekin-Zaim ÖB, Yalçın-Çakmaklı G, Çolpak Aİ, Şimşek-Kiper PÖ, Utine GE, Elibol B.   +5 more
europepmc   +1 more source