Results 121 to 130 of about 1,422,626 (192)

Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: Case report

, 2014
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of 1 in 40 000 to in 70 000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the ...
Okumuş, N., Dinlen, N., Beken, S., Dilli, D., Zenciroǧlu, A., Aydın, Banu   +5 more
core  

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

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

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

, 1996
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Recently, the Treacher Collins syndrome gene( TCOF1) has been positionally cloned and a series
Wasmuth, John J., Gladwin, Amanda J., Dixon, Jill; id_orcid, Edwards, Sara, Hennekam, Raoul C M, Dixon, Michael J., Loftus, Stacie K.   +6 more
core  

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

[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

Morphological aspect and management of pediatric cataract in Treacher Collins syndrome

The morphological aspect of lens opacification in a 13-year-old patient with Treacher Collins Syndrome was discussed. The outcome of the cataract surgical treatment was presented.
Verçosa, Islane Maria Castro, Botelho, C., Fortes Filho, João Borges, Ellery, M., Tartarella, Marcia Beatriz, Caliope, Mariana   +5 more
core   +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

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

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