Results 131 to 140 of about 1,243 (149)

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2023
Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation.
Yonghua, Li, Wenyue, Chi, Ken, Lin, Jinyan, Zu, Hua, Shao, Zhiyong, Mao, Quandong, Chen, Jing, Ma   +7 more
openaire   +1 more source

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome

International Journal of Molecular Sciences, 2021
Agnieszka Piekiełko-Witkowska, Małgorzata Grzanka   +1 more
exaly  

TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC

Cancer Science, 2022
Daoyong Zhang, Dian Xia, Dian Wang
exaly  

TCOF1 promotes the colorectal cancer progression by stabilizing β-catenin

2023
Dong-Hoon Jin, Hyeseon Yun, Jin Dong-Hoon   +2 more
exaly  

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Human Mutation, 2005
Cibele Masotti
exaly  

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

European Journal of Human Genetics, 2012
Anneke Seller, Tracy Lester
exaly  

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome

Molecular Genetics and Genomics, 2014
Zhi-Chun Feng
exaly  

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

BMC Medical Genetics, 2011
Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli   +2 more
exaly  

Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene

Clinical Genetics, 2012
exaly  

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1

Pediatrics International, 2008
Makoto Ōtsu
exaly