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Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS. [PDF]
J Pers MedMarinac I, Trotić R, Košec A.
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Molecular Genetics of Non-Syndromic Cleft Palate and Van Der Woude Syndrome [PDF]
, 2003 Koillinen, Hannele
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The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). [PDF]
Sci RepGil Rosas M +9 more
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Use of the GlideScope® for enhanced airway challenges in Treacher Collins syndrome.
Indian J Anaesth, 2020 Ahuja V, Nyima T, Verma P, Gupta P.
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Orthodontics and Craniofacial Research, 2007
Structured AbstractAuthors – Dixon J, Trainor P, Dixon MJTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss‐of‐function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre‐ribosomal processing and ribosomal biogenesis. In mice,
Paul A Trainor, Michael J Dixon
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Structured AbstractAuthors – Dixon J, Trainor P, Dixon MJTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss‐of‐function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre‐ribosomal processing and ribosomal biogenesis. In mice,
Paul A Trainor, Michael J Dixon
exaly +5 more sources
Treacher Collins Syndrome: Genetics, Clinical Features and Management [PDF]
Genes, 2021 Bozena Anna Marszałek-Kruk +2 more
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Archives of Otolaryngology - Head and Neck Surgery, 1964
Although the Treacher-Collins syndrome is not a new entity and cases have been reported sporadically since Berry in 1888 first reported two cases of congenital coloboma of the lower eyelids, it is surprising that little has been written concerning the otologic aspects of this very interesting, if unfortunate, aggregate of congenital malformations.
A O, FERNANDEZ, M L, RONIS
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Although the Treacher-Collins syndrome is not a new entity and cases have been reported sporadically since Berry in 1888 first reported two cases of congenital coloboma of the lower eyelids, it is surprising that little has been written concerning the otologic aspects of this very interesting, if unfortunate, aggregate of congenital malformations.
A O, FERNANDEZ, M L, RONIS
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Clinics in Plastic Surgery, 2019
Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding.
Albaraa, Aljerian, Mirko S, Gilardino
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Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding.
Albaraa, Aljerian, Mirko S, Gilardino
openaire +2 more sources