Results 51 to 60 of about 6,402 (203)
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +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
Head and Neck Clinical Signs Associated With Diseases: A Scoping Review
Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter +8 more
wiley +1 more source
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
core
High-sensitivity C-reactive protein is a predictive factor of adiposity in children : results of the Identification and prevention of Dietary- and lifestyle-induced health Effects in Children and InfantS (IDEFICS) study [PDF]
, 2013 Background-Whereas cross-sectional studies have shown that obesity is associated with increased C-reactive protein (CRP) levels in children, little is known about the impact of low-grade inflammation on body mass changes during growth.
Fraterman, Arno +12 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature
Contemporary Clinical Dentistry, 2014 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable.
Raj Renju +3 more
doaj +1 more source
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
doaj +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, Volume 16, Issue 3, Page 561-569, March 2026.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
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
doaj