Results 31 to 40 of about 13,585 (261)

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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Anomalous dental morphology and root resorption during orthodontic treatment: a pilot study

Australasian Orthodontic Journal, 1998
The present study investigated the relation between anomalous dental morphology and root resorption during orthodontic treatment. One hundred and eleven sets of orthodontic records (a total of 1,630 teeth) were examined.
Thongudomporn Udom, Freer Terrence J
doaj   +1 more source

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

Prevalence of Dental Anomalies in a Sample of Turkish Children: A Retrospective Study

Bezmiâlem Science
Objective: The aim of this study was to determine the prevalence of dental anomalies in Turkish children aged 2-14 years by panoramic radiographies. The most common dental anomaly, the frequency of multiple dental anomalies and gender differences were ...
Pınar SERDAR EYMİRLİ, Sevilay KARAHAN, Emel UZUNOĞLU ÖZYÜREK   +2 more
doaj   +1 more source

Prevalence of Dental Anomalies in a Sample of Orthodontic Patients in Erbil City

Sulaimani Dental Journal, 2020
Objective: Dental anomalies are abnormal morphological development of dentition during various periods of tooth development and have an important role in the development of various kinds of malocclusions.
Asma Rahman, Rebin Mohammed Amin, Muhammed Saleh   +2 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source

Dens invaginatus: A review and case series

Saudi Endodontic Journal, 2018
Dens invaginatus (DI) (dens in dente) is a developmental anomaly resulting from an invagination in part of variable depth of the enamel organ into the dental papilla in the surface of the crown before calcification of the dental tissues.
Nesrine Tebbeb, Dhia Zaabar, Sonia Zouiten, Abdelatif Boughzala   +3 more
doaj   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Talon Cusp in A Supplementary Tooth - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2005
Talon cusp is a morphological dental anomaly, which presents as an accessory cusp and commonly occurs on the lingual surfaces of the incisors. Supernumerary tooth is a common dental anomaly, which occurs in both maxilla and the mandible.
S Meera, Babu Mathew
doaj