Results 51 to 60 of about 36,913 (263)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Isovaleramida, principio anticonvulsivo aislado de Valeriana pavonii
Biomédica: revista del Instituto Nacional de Salud, 2010 Introducción. El fraccionamiento fitoquímico de Valeriana pavonii, especie vegetal nativa utilizada tradicionalmente en Colombia con fines tranquilizantes, condujo al aislamiento e identificación de la isovaleramida, uno de los principios responsables de
Sara Emilia Giraldo +6 more
doaj +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 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 +23 more
wiley +1 more source
International Journal of Gerontology, 2012 Elderly people are the largest and continuously fastest growing population among patients with epilepsy. Elderly patients with epilepsy are very different from other age groups in many respects and clinicians shouldn’t treat them in the same way as ...
Lu-An Chen +2 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Inflammation Unchecked: Concurrent KD and SJS in an 18‐Month‐Old Child
Arthritis Care &Research, Accepted Article.
Catherine Deffendall +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi +6 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Hyperostosis frontalis interna (HFI) is a frequently underrecognized condition characterized by overgrowth of the frontal endocranium, most commonly observed in post‐menopausal women. Although its etiology remains unclear, hormonal influences and a possible relationship with neurocognitive changes have been proposed.
Danielle Felsberg +5 more
wiley +1 more source