Results 81 to 90 of about 25,902 (302)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Analysis of Pediatric Pulpotomy, Pulpectomy, and Extractions in Primary Teeth Revealed No Significant Association with Subsequent Root Canal Therapy and Extractions in Permanent Teeth: A Retrospective Study

Pediatric Reports
Recent evidence suggests that an ever-growing number of pediatric patients require invasive treatments such as root canal therapy (RCT) in their permanent dentition, albeit with little information about risk factors such as prior invasive treatments of ...
Arash Farhadian, Mayce Arreem Issa, Karl Kingsley, Victoria Sullivan   +3 more
doaj   +1 more source

Dental arch widths in the early and late permanent dentitions of a Nigerian population

Nigerian Dental Journal, 2009
Objective: This study was carried out in a Nigerian population to assess arch widths at two different stages of dentition, to observe the comparative changes which may occur, and to determine the presence or absence of sexual dimorphism in arch ...
I. A. Aluko, O. O. daCosta, M. C. Isiekwe   +2 more
doaj   +1 more source

Influence of growth structures and fixed appliances on automated cephalometric landmark recognition with a customized convolutional neural network

BMC Oral Health, 2023
Background One of the main uses of artificial intelligence in the field of orthodontics is automated cephalometric analysis. Aim of the present study was to evaluate whether developmental stages of a dentition, fixed orthodontic appliances or other ...
Teodora Popova, Thomas Stocker, Yeganeh Khazaei, Yoana Malenova, Andrea Wichelhaus, Hisham Sabbagh   +5 more
doaj   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

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, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Molariform Mesiodens in Primary Dentition

Case Reports in Dentistry, 2013
Mesiodens is a midline supernumerary tooth commonly seen in the maxillary arch, and incidence of molariform mesiodens in the maxillary midline is rare in permanent dentition and extremely uncommon in primary dentition.
Sachin B. Mangalekar, Tajammul Ahmed, M. Zakirulla, Halawar Sangmesh Shivappa, F. B. Bheemappa, Chandrashekar Yavagal   +5 more
doaj   +1 more source

Pulp therapy in young permanent dentition: a systematic review. [PDF]

, 2019
This systematic review evaluate the most proper dental materials and treatment method that are used in pulp treatment of young permanent ...
Munwes, Oren
core  

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

An Evaluatıon Of Occlusıon Of Chıldren In The Prımary And Mıxed Dentıtıon

Turkish Journal of Orthodontics, 1996
The occlusion in the primary and mixed dentition stages have evaluated. Among the children being examined, highest rates for class 1 incisor occlusion, flush terminal plane in decidious dentition and class 1 molar occlusion in permanant molars found as ...
Halil Kayalıbay, Meryem Uzamış, Gülgün İkören   +2 more
doaj   +1 more source