Results 161 to 170 of about 31,520 (324)

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Baldini, A, Fuchs, JC, Linden, JF, Tucker, AS   +3 more
core  

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Niu M, Wang D, Jia S.
europepmc   +2 more sources

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

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj  

Metabolic and functional characterization of adult skeletal muscle in Down syndrome mouse model (Ts1Cje): insight into the muscle weakness (hypotonia) seen in the human condition.

, 2016
Lim Young Chai, Rajesh Ramasamy, Stanslas Johnson, L. King, Pike-See Cheah   +4 more
openalex   +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Rocuronium and Sugammadex Use Among Canadian Pediatric Anesthesiologists: A National Cross‐Sectional Survey

Pediatric Anesthesia, EarlyView.
MengQi Zhang, Jonathan G. Bailey, Tristan Dumbarton, Mathew B. Kiberd   +3 more
wiley   +1 more source