Results 141 to 150 of about 36,048 (304)
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives The objective of this scoping review was to map existing literature on oral health and related care in individuals with Motor Neurone Disease (MND). Specifically, the review aimed to identify barriers and facilitators to maintaining oral hygiene, summarise available clinical guidelines and patient‐facing resources, and examine how ...
Mariam A. Khokhar +3 more
wiley +1 more source
Clinical Genetics, EarlyView.Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee +6 more
wiley +1 more source
Diagnostics Of Supernumerary Teeth In Orthodontic Relapse [PDF]
, 2019 Aim: increasing the effectiveness of diagnosis and further orthodontic-surgical treatment of various clinical forms of hyperdontia (supernumerary teeth) and preventing recurrence with the use of cone-ray computer tomography data in orthodontic practice ...
Bindiuhin, O. (Oleksii)
core
Clinical Genetics, EarlyView.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
Clinical Genetics, EarlyView.Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise +5 more
wiley +1 more source
Treatment of humeral condylar fractures and humeral intracondylar fissures in cats with patellar fracture and dental anomaly syndrome. [PDF]
J Feline Med Surg, 2020 Chan AJ +3 more
europepmc +1 more source
Cell Proliferation, EarlyView.The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao +6 more
wiley +1 more source
Bilateral fusion of mandibular second molars with supernumerary teeth: case report
Brazilian Dental Journal, 2002 Fusion is a developmental anomaly characterized by the union of two adjacent teeth. In this article we report a rare case of bilateral fusion of permanent mandibular second molars with supernumerary teeth. The rarity with which this entity appears, along
Nunes Eduardo +3 more
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