Results 51 to 60 of about 6,776,369 (200)
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
doaj +1 more source
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
Molecular Genetics & Genomic Medicine, 2021 Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features ...
Zhaoyu Pan +12 more
doaj +1 more source
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
core +2 more sources
PLoS Genetics, 2023 Loss or absence of hearing is common at both extremes of human lifespan, in the forms of congenital deafness and age-related hearing loss. While these are often studied separately, there is increasing evidence that their genetic basis is at least ...
Daniel Hui +14 more
doaj +1 more source
Insights into neural crest development and evolution from genomic analysis [PDF]
, 2013 The neural crest is an excellent model system for the study of cell type diversification during embryonic development due to its multipotency, motility, and ability to form a broad array of derivatives ranging from neurons and glia, to cartilage, bone,
Bronner, Marianne E. +1 more
core +1 more source
Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1 [PDF]
Human Molecular Genetics, 1997 The gene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has recently been cloned. While the function of the predicted protein, Treacle, is unknown, it has been shown to share a number of features with the highly phosphorylated nucleolar phosphoproteins, which play a role in nucleolar-cytoplasmic transport ...
Dixon, Jill +3 more
openaire +3 more sources
, 2017 WIREs Developmental Biology published by Wiley Periodicals, Inc. A mouth is present in all animals, and comprises an opening from the outside into the oral cavity and the beginnings of the digestive tract to allow eating.
Adhikari +88 more
core +2 more sources
Frontiers in Genetics, 2022 Hepatocellular carcinoma (HCC) is the most prevalent type of primary liver cancer characterized by high mortality and morbidity rate. The lack of effective treatments and the high frequency of recurrence lead to poor prognosis of patients with HCC ...
Xin-Yi Liang +7 more
doaj +1 more source
Selection signatures of fat tail in sheep [PDF]
, 2017 The investigation of the genes with a role in lipid metabolism enjoy considerable scientific and commercial interest because of the strong correlations between fat deposition and the risk of cardiovascular disease. The fat tail characteristic of sheep is
Ciani, E. +4 more
core +1 more source
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]
, 2013 Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate +23 more
core +5 more sources