Results 51 to 60 of about 14,767 (207)
Animal Models and Experimental Medicine, EarlyView.This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen +9 more
wiley +1 more source
Pharmacogenomics and Personalized Medicine, 2022 Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L +3 more
doaj
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley +1 more source
Embarazada con neurofibromatosis tipo 1
Revista de Ciencias Médicas de Pinar del Río, 2016 La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio +3 more
doaj
Raising resilience: A parenting intervention for families affected by childhood epilepsy
Epilepsia, EarlyView.Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman +4 more
wiley +1 more source
An ShRNA Screen Identifies MEIS1 as a Driver of Malignant Peripheral Nerve Sheath Tumors
EBioMedicine, 2016 Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas that are a major source of mortality in neurofibromatosis type 1 (NF1) patients.
Ami V. Patel +5 more
doaj +1 more source
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
Molecular Genetics & Genomic Medicine, 2020 Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski +4 more
doaj +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Febrile status epilepticus and epileptogenesis: The FEBSTAT study
Epilepsia Open, EarlyView.Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis +14 more
wiley +1 more source
Biallelic Mismatch Repair Deficiency in an Adolescent Female
Case Reports in Genetics, 2018 Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth +6 more
doaj +1 more source