Results 131 to 140 of about 1,422,626 (192)

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

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

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

Imaging of Treacher Collins syndrome: A case report. [PDF]

Radiol Case Rep
Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S.   +4 more
europepmc   +1 more source

Multidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report. [PDF]

Cureus
Rein LE, McQuitty A, Nguyen T.
europepmc   +1 more source

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]

Sci Prog
Cadena-Ullauri S, Tamayo-Trujillo R, Paz-Cruz E, Guevara-Ramírez P, Ruiz-Pozo VA, Cuenca FA, Zambrano AK.   +6 more
europepmc   +1 more source

Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management. <i>Genes</i> 2021, <i>12</i>, 1392. [PDF]

Genes (Basel)
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.   +3 more
europepmc   +1 more source

Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management. [PDF]

J Family Med Prim Care
Nassar JY, Kefi F, Alhartani MM, Sultan AA, Al-Khatib T, Safdar OY.   +5 more
europepmc   +1 more source

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption. [PDF]

Orphanet J Rare Dis
Jiang Z, Mao K, Wang B, Zhu H, Liu J, Lang R, Xiao B, Shan H, Chen Q, Li Y, Zhao S, Zhang Q, Liu H, Zhang YB.   +13 more
europepmc   +1 more source

Reconstruction of Zygoma in Total Agenesis in Treacher-Collins Syndrome Using Kerfed Rib Grafts - A Retrospective Study. [PDF]

Ann Maxillofac Surg
Balaji SM, Balaji P.
europepmc   +1 more source