Results 141 to 150 of about 1,682 (175)

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

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes? [PDF]

NPJ Genom Med
Arkush L, Karandasheva K, Ouellet F, D'Gama AM, Rosen Sheidley B, Liang NSY, Chau V, Costain G, Smith L, Alwis A, Eltze C, Poduri A, D'Arco F, Adams J, Lee K, Singh J, Brown APY, Nagendran A, Pode-Shakked B, Tzadok M, Ben Zeev B, McTague A.   +21 more
europepmc   +1 more source

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes. [PDF]

J Craniofac Surg
Episalla NC, Zhang A, Mantilla-Rivas E, Shur NE, Oh HS, Barrera MC, Oh AK, Sentosa J, Boyajian MJ, Rogers GF.   +9 more
europepmc   +1 more source

TCOF1 promotes the colorectal cancer progression by stabilizing β-catenin

Medical Oncology, 2023
Colorectal cancer (CRC) is one of the highest mortality rates worldwide, and various studies reported to the occurrence of CRC. In particular, the Wnt/β-catenin pathway is known to be a major factor in the progression of CRC and β-catenin involved in the
Dong-Hoon Jin, Ji-Eun You, Hyeseon Yun
exaly   +4 more sources

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

International Journal of Molecular Sciences, 2021
The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response.
Agnieszka Piekielko-Witkowska, Małgorzata Grzanka   +1 more
exaly   +4 more sources

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De novo TCOF1 mutation in Treacher Collins syndrome

International Journal of Pediatric Otorhinolaryngology, 2021
To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears.Clinical analysis, hearing tests, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed on the family members.The 6 months old ...
Jinxiu, Liu, Jing, Dong, Peimei, Li, Wenyuan, Duan   +3 more
openaire   +2 more sources

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome [PDF]

European Journal of Human Genetics, 2012
Treacher-Collins-Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness.
Tracy Lester
exaly   +3 more sources

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations† [PDF]

American Journal of Medical Genetics, Part A, 2008
Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models.
Ethylin Wang Jabs, Sun Ha Jee, Samuel S Chong   +2 more
exaly   +2 more sources

TCOF1 (Treacle) and the Treacher Collins syndrome

2008
Abstract Treacher Collins syndrome (TCS; OMIM 154500, also known as mandibulofacial dysostosis and Franceschetti-Zwahlen-Klein syndrome) is a craniofacial disorder that is inherited in an autosomal dominant fashion. TCS occurs with an estimated incidence of 1/50,000 live births (Rovin et al., 1964; Fazen et al., 1967).
Jill Dixon, Paul A Trainor,, Michael J Dixon   +2 more
  +5 more sources