Results 171 to 180 of about 2,358 (194)

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2015
To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.The medical history was taken, and general physical examinations and otological examinations were conducted in this patient.
Hongbo, Li, Xu, Zhang, Zhenyue, Li, Jing, Chen, Yu, Lu, Jingjie, Jia, Huijun, Yuan, Dongyi, Han   +7 more
openaire   +1 more source

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene

Clinical Dysmorphology, 2009
List of key featuresProminent foreheadGeneral anomalies of external earsMiddle earInner earMicrophthalmiaIris colobomaRetinal colobomaAbnormal eyebrowsAbnormal eyelashesBroad noseLarge noseSmall faceFacial cleftMicrognathiaMicropenisCryptorchid testesHypoplastic scrotumSummaryWe report a case of ...
Chumei, Li, John, Mernagh, Jacqueline, Bourgeois   +2 more
openaire   +2 more sources

A novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

2019
[Abstract not Available]
Cavdartepe, B. Eser, Kocak, N., Yasa, N., Cora, T., Duymus, F.   +4 more
openaire   +1 more source

Characterization of the TCOF1 Gene Using a Neuroblastoma Cell Line and a Mouse Model

2006
VCU Theses and ...
openaire   +1 more source

[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

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

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

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Journal of Clinical Laboratory Analysis, 2021
Chuan Zhang, Huiqin Xue, Shengju Hao
exaly  

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

Clinical Genetics, 2012
J-Y Chen, S-J Chen
exaly  

Mutational analysis of theTCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis

American Journal of Medical Genetics, Part A, 2005
Kunihiro Kawashima, Tsuneki Sugihara
exaly  

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

Human Mutation, 2005
Cibele Masotti, Maria Rita Passos-Bueno
exaly