Results 21 to 30 of about 6,402 (203)

Increased frontonasal angle and surface area of mandibular antegonial notch; reliable signs of Treacher Collins syndrome

open access: yesJournal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Background: Treacher Collin Syndrome is one of the most disfiguring congenital anomalies of the face, the visible part of the human body used for the identification of an individual.
Gyan P Singh   +3 more
doaj   +1 more source

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]

open access: yes, 1997
Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty   +8 more
core   +4 more sources

Franceschetti syndrome

open access: yesContemporary Clinical Dentistry, 2011
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E.
Vikrant Kasat
doaj   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

open access: yes, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

Cell-fate determination by ubiquitin-dependent regulation of translation. [PDF]

open access: yes, 2015
Metazoan development depends on the accurate execution of differentiation programs that allow pluripotent stem cells to adopt specific fates. Differentiation requires changes to chromatin architecture and transcriptional networks, yet whether other ...
Fedrigo, Indro   +7 more
core   +1 more source

Treacher Collins Syndrome [PDF]

open access: yesJournal of Nepal Paediatric Society, 2013
We present a rare case of Trecher Collins Syndrome.DOI: http://dx.doi.org/10.3126/jnps.v33i3.7896  J. Nepal Paediatr. Soc.
Abhijeet Saha   +2 more
openaire   +4 more sources

Treacher Collins syndrome and implications in the oral cavity [PDF]

open access: yes, 2020
Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Cardoso, Inês Lopes, Duque, C.
core   +1 more source

Ear Surgery in Treacher Collins Syndrome [PDF]

open access: yesAnnals of Otology, Rhinology & Laryngology, 1995
The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly.
Marres, H.A.M.   +3 more
openaire   +4 more sources

Treacher Collins syndrome: A case report and review of literature

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2015
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity.
Tarun Kumar   +3 more
doaj   +1 more source

The effect of atorvastatin on pancreatic beta cell requirement in women with polycystic ovary syndrome [PDF]

open access: yes, 2017
Background There is an increased risk of developing T2DM in women with polycystic ovary syndrome (PCOS) and there is evidence that statins improve metabolic parameters in these patients.
Atkin, Stephen L.   +3 more
core   +2 more sources

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