Results 151 to 160 of about 35,818 (311)

Determination of the İncidence and Types of Tooth Development Anomalies Using Cone Beam Computed Tomography

Current Research in Dental Sciences
Objective: The aim of this retrospective study is to evaluate the presence of dental anomalies and the prevalence of anomaly types by examining cone beam computed tomography (CBCT) images obtained from patients presenting to the Faculty of Dentistry at ...
Mevlüt Sinan Ocak, Adem Özdemir
doaj   +1 more source

Oral Health Care Services, Barriers and Enablers to Maintaining Good Oral Health in Motor Neurone Disease: A Scoping Review

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, Lucy A. O'Malley, Anne‐Marie Glenny, Xiaohui Chen   +3 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 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, Reyes Rodriguez NA, Bailey SJ, Langley-Hobbs SJ.   +3 more
europepmc   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

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, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

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, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 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, Moraes Ivaldo Gomes de, Novaes Paulo Márcio de Oliveira, Sousa Simone Maria Galvão de   +3 more
doaj  

Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. [PDF]

Proc Natl Acad Sci U S A, 2020
Abrams SR, Hawks AL, Evans JM, Famula TR, Mahaffey M, Johnson GS, Mason JM, Clark LA.   +7 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

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, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

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, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source