Results 51 to 60 of about 670 (214)
Progress in Orthodontics, 2022 Background The use of palatal miniscrew offers the possibility to improve the effectiveness of orthodontic expansion devices. Palatal expanders supported by miniscrew can be applied with different clinical protocols. Some authors proposed the use of four
Riccardo Nucera +5 more
doaj +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
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 +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
The Anatomical Record, EarlyView.A new musculoskeletal reconstruction and revision of the cranio‐mandibular anatomy of the Devonian arthrodire placoderm Dunkleosteus terrelli from a comparative and functional anatomical perspective. Dunkleosteus is a specialized arthrodire with many specializations for feeding on large vertebrates, and many of its features are part of broader ...
Russell K. Engelman +4 more
wiley +1 more source
Journal of Medical Case Reports, 2012 Introduction To the best of our knowledge, this is the first report of a case of treatment-resistant depression in which the patient was evaluated for sleep disordered breathing as the cause and in which rapid palatal expansion to permanently treat the ...
Miller Paul, Iyer Mala, Gold Avram R
doaj +1 more source
The Anatomical Record, EarlyView.Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley +1 more source
Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs
The Anatomical Record, EarlyView.Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille +6 more
wiley +1 more source