Results 91 to 100 of about 2,522,918 (175)
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 +7 more
doaj
Investigation of TCOF1 Variations: An Insight to Treacher Collins Syndrome
, 2023 Treacher Collins Syndrome (TCS) is a genetic disease in which the development of facial bones and tissues is affected. It is very rare, affecting approximately one in every 50,000 people.
Jones, Alyssa, Ballard, Hunter
core
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 +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 +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 +7 more
europepmc +1 more source
Treacher Collins syndrome (TCS) is a genetic disorder afecting facial development, primarily caused by mutations in the TCOF1 gene. TCOF1, along with NOLC1, play important roles in ribosomal RNA transcription and processing.
Coux, Gabriela +4 more
core +1 more source
DD-TCOF1 expression is regulated by the concentration of Shield-1.
, 2014 (A–C) The Shield-1 concentration- and time-dependent expression of TCOF1 was examined as described in Materials and Methods. Although the EtOH vehicle was kept constant as described, a control without EtOH vehicle was also included for the parental wild ...
Benhur Lee (78126) +4 more
core +1 more source
TCOF1 expression in stable WDR43 shRNA cell lines.
, 2014 (A–O) IF analysis of TCOF1 (red) localization in control shRNA (A–D, M) and human WDR43 shRNA (E–L, N, O) stable HeLa cell lines. All cells were positive for shRNA expression (green) and DAPI stained nuclei (blue).
Kathleen L. McCann (143114) +10 more
core +1 more source
Balkan Journal of Medical GeneticsTreacher 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 +8 more
doaj +1 more source
Gene Therapy for Allergic Diseases
, 2010 Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫 +1 more
core +1 more source