Results 71 to 80 of about 1,243 (149)

The Role of Mutations on Gene TCOF1, in Treacher Collins Syndrome

American Journal of Surgery and Clinical Case Reports, 2021
Asadi S, Zarei Y, Housseini HS, Jamshidi PJ   +3 more
openaire   +1 more source

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Rwanda Medical Journal, 2022
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, L. Mutesa   +7 more
doaj  

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Microtia: A Combined Approach by Genetics and Audiology

The Egyptian Journal of Otolaryngology, 2016
En Abstract Introduction Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus).
Elham El-Saiid, Salwa Mahmoud, Hoda Abu Moussa, Nagwa Meguid, Ehab Ragaa   +4 more
doaj   +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

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

Balkan Journal of Medical Genetics
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner.
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A   +8 more
doaj   +1 more source

Genotype-phenotype associations in microtia: a systematic review

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +1 more source

Unveiling a cuproptosis-related risk model and the role of FARSB in hepatocellular carcinoma

Heliyon
Background: Cuproptosis, a type of regulated cell death that was recently identified, has been linked to the development of a variety of diseases, among them being cancers.
Junlin Duan, Xuan Zhang, Jingyu Xu, Jun Liu, Hetong Zhao   +4 more
doaj   +1 more source

TCOF1 Gene [PDF]

, 2020
openaire   +1 more source

TCOF1 Regulates Tumor Cell Migration Through p53-Dependent Mitochondrial Homeostasis and F-Actin Dynamics. [PDF]

Curr Issues Mol Biol
Jiang Y, Wei Y, Yang D, Yao J, Hu Q, Li X.   +5 more
europepmc   +1 more source