Results 121 to 130 of about 4,749 (216)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Angewandte Chemie, EarlyView.We introduce a novel chemical derivatisation strategy for the UV‐activated detection of elusive metabolites. Incorporation of a tocopherol‐active chromophore allows for the detection of tagged analytes as photoionised radical cations, selectively induced by a 266 nm laser.
Sofia R. McGowan +5 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao +4 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley +1 more source
Statistical shape modeling of the human inner ear through micro‐computed tomography imaging
The Anatomical Record, EarlyView.In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere +8 more
wiley +1 more source