Results 51 to 60 of about 6,877 (203)
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
Molecular Genetics & Genomic MedicineBackground Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated ...
Dan‐Yan Zhuang +7 more
doaj +1 more source
A Case Report of a Child with Treacher Collins Syndrome Posted for Craniofacial Reconstruction [PDF]
The Indian Anaesthetists' Forum, 2010 We describe anaesthesia in a child suffering from Treacher Collins Syndrome (TCS) posted for craniofacial reconstruction by mandibular distraction with external ...
Snehalata Dhayagude +2 more
doaj
Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]
, 2019 Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan +4 more
core +2 more sources
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source
The “Domestication Syndrome” in Mammals: A Unified Explanation Based on Neural Crest Cell Behavior and Genetics [PDF]
, 2014 Charles Darwin, while trying to devise a general theory of heredity from the observations of animal and plant breeders, discovered that domesticated mammals possess a distinctive and unusual suite of heritable traits not seen in their wild progenitors ...
Fitch, W. Tecumseh +2 more
core +1 more source
The FASEB Journal, Volume 40, Issue 1, 15 January 2026.Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay +7 more
wiley +1 more source
Clinical spectrum of Treacher Collins syndrome
Journal of Oral Biology and Craniofacial Research, 2011 : Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra +3 more
doaj +1 more source
Treacher Collins Syndrome: Challenges for Anesthesia Care [PDF]
, 2016 This poster discusses the disorder known as Treacher Collins syndrome with a focus on understanding the syndrome and unique challenges in patient care. Hallmark features of the disorder present unique challenges for healthcare professionals, especially ...
Smith, Clara
core +1 more source
Ocular abnormalities in genetically deaf people [PDF]
, 2000 Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients.
Brunoni, Decio +3 more
core +3 more sources
Journal of Applied Research in Intellectual Disabilities, Volume 39, Issue 1, January 2026.ABSTRACT Background Low levels of physical activity (PA) among adolescents with intellectual disabilities are a serious health concern that increases the risk for chronic health conditions. This scoping review examines technology utilisation that supports PA engagement among adolescents with intellectual disabilities.
Patricia West +5 more
wiley +1 more source