Results 71 to 80 of about 11,048 (255)
Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics
As one of the common birth defects worldwide, nonsyndromic microtia is a complex disease that results from interactions between environmental and genetic factors.
Xin Chen +8 more
semanticscholar +1 more source
Hypoxic conditions alter developing branchial arch-derived structures in zebrafish [PDF]
Background: Previous epidemiological findings have implicated hypoxia as a risk factor for craniofacial defects including cleft lip, microtia and branchial arch anomalies.
Parsons, Trish E +3 more
core +3 more sources
Vat photopolymerization‐based bioprinting: Shaping next‐generation tissues with light
Vat photopolymerization‐based bioprinting is revolutionizing biofabrication by enabling high‐precision construction of biological structures. This review systematically examines photopolymerization mechanisms and variants in printing techniques, discusses design principles and composition of bio‐inks, and highlights recent progress toward next ...
Wei Long Ng +4 more
wiley +1 more source
Auricular cartilage repair using cryogel scaffolds loaded with BMP-7-expressing primary chondrocytes [PDF]
The loss of cartilage tissue due to trauma, tumour surgery or congenital defects, such as microtia and anotia, is one of the major concerns in head and neck surgery.
Al-Dosari +35 more
core +1 more source
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus +5 more
wiley +1 more source
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig +8 more
wiley +1 more source
A term newborn with nasal mass caused by choristoma (hairy poly). ABSTRACT We describe the case of a term Hispanic male neonate with a nasal septum/inferior turbinate choristoma. The presented case report includes a review of the historical, radiological, surgical, and histological features, and the literature on this entity.
Surasak Puvabanditsin +6 more
wiley +1 more source
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga +4 more
core +1 more source
The literature demonstrates that bone‐anchored hearing implants have a positive impact on auditory performance and quality of life (QoL), but these outcomes may not always correlate. This systematic review analyzed 56 articles to identify discrepancies in self‐reported, disease‐specific QoL benefits among patients with either unilateral sensorineural ...
Karina Théorêt +4 more
wiley +1 more source

