Results 131 to 140 of about 6,877 (203)

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

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Li Y, Chi W, Lin K, Zu J, Shao H, Mao Z, Chen Q, Ma J.   +7 more
europepmc   +1 more source

Evaluation of masticatory function in the pediatric and adult populations with Treacher Collins syndrome. [PDF]

J Oral Biol Craniofac Res
Medeiros LH, Bueno PM, Fidelis da Silva LV, Fukushiro AP, Trindade-Suedam IK.   +4 more
europepmc   +1 more source

Long-term treatment outcomes from a patient's perspective with Treacher Collins syndrome. [PDF]

BMJ Case Rep, 2021
Smith F, Fowler P, Ellis P.
europepmc   +1 more source

Obstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review. [PDF]

J Clin Med
Paradowska-Stolarz A, Sluzalec-Wieckiewicz K, Mikulewicz M, Maslowiec C, Kokot K, Miralles-Jorda L, Sobanska M, Laskowska J.   +7 more
europepmc   +1 more source

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome. [PDF]

Int J Mol Sci, 2021
Grzanka M, Piekiełko-Witkowska A.
europepmc   +1 more source

Case Report: A novel heterozygous variant of the <i>TCOF1</i> gene in Treacher Collins syndrome. [PDF]

Front Pediatr
Zhang L, Wang F, Zhu Y, Zhang H, Liu Y.
europepmc   +1 more source

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients. [PDF]

Mol Genet Genomic Med, 2021
Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, Liu D, Liu H, Li R, Hu X, Guan J, Tang W, Lu W.   +12 more
europepmc   +1 more source

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report. [PDF]

BMC Pediatr
Zhu H, Du M, Zhu S, Huang Y, Zeng L, Kuai Y, Xiong F, Pang Y.   +7 more
europepmc   +1 more source

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. [PDF]

J Clin Lab Anal, 2021
Zhang C, An L, Xue H, Hao S, Yan Y, Zhang Q, Jin X, Li Q, Zhou B, Feng X, Ma P, Wang X, Chen X, Chen C, Cao Z, Ma X.   +15 more
europepmc   +1 more source

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome. [PDF]

HGG Adv
Ferraro F, Kühn N, Rots D, van der Linde HC, Mohseni B, van Unen L, Drost M, Nellist M, Koekkoek M, Schot R, de Gier HW, Pleumeekers M, Barakat TS, Kleefstra T, Weerts M, van Dooren MF, van Ham TJ.   +16 more
europepmc   +1 more source