Results 51 to 60 of about 6,330 (183)
Stem Cell Research, 2021 Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
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The role of negative maternal affective states and infant temperament in early interactions between infants with cleft lip and their mothers [PDF]
, 2012 OBJECTIVES: The study examined the early interaction between mothers and their infants with cleft lip, assessing the role of maternal affective state and expressiveness and differences in infant temperament.
Borgatti, R. +6 more
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Treacher-Collins Syndrome-A Challenge For Aaesthesiologists
Indian Journal of Anaesthesia, 2009 Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia ...
Leena Goel +2 more
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A CASE OF TREACHER COLLINS SYNDROME
Balkan Journal of Medical Genetics, 2013 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S. +5 more
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Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions. [PDF]
, 2018 Metazoan development depends on tightly regulated gene expression programs that instruct progenitor cells to adopt specialized fates. Recent work found that posttranslational modifications, such as monoubiquitylation, can determine cell fate also ...
Baur, Regina +4 more
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Cumhuriyet Dental Journal, 2019 This article reports a case of Treacher Collins syndrome (TCS) in a five-year-old male patient treated in Kırıkkale University, Department of Pediatric Dentistry.
Aslı Soğukpınar, Merve Erkmen Almaz
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The genetics of cholesteatoma. A systematic review using narrative synthesis [PDF]
, 2018 Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale up to a million people are ...
Al Balushi +51 more
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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
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Zbrinjavanje dišnoga puta uz direktnu laringoskopiju u djeteta s Goldenharovim sindromom [PDF]
, 2016 Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities.
Bibiana Vitković, Morena Milić
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A rare case of beaten copper skull pattern associated with Treacher Collins syndrome
Journal of Oral and Maxillofacial Radiology, 2016 Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia.
Sunita Gupta +3 more
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