Results 21 to 30 of about 197,571 (210)
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source
Early evolution of the gular musculature and its innervation in ray‐finned fishes
The Anatomical Record, EarlyView.Abstract Gular muscles are an important but often overlooked component of cranial anatomy in bony fishes. They are located on the ventral surface of the head and are derived from the mandibular and hyoid arches. We present a comprehensive review of the gular musculature and its innervation across early diverging actinopterygian lineages. By integrating
Aléssio Datovo +4 more
wiley +1 more source
Genética Molecular e Ingeniería Genética (curso 2010-2011). Examen de Junio. Problema
, 2011 Problema de Genética ...
Contreras, Asunción
core +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source
Characterizing chapeau de gendarme in pediatric epilepsy through systematic video‐EEG evaluation
Epilepsia, EarlyView.Abstract Objective Chapeau de gendarme (CdG) is a subtle but clinically relevant semiology that has been scarcely studied in children. Previous studies have primarily focused on its localizing value in small, surgical cohorts. This study aimed to systematically characterize frequency and clinical features of CdG across the pediatric age spectrum ...
Hanna Barbara Brinkmann +5 more
wiley +1 more source
Problemas de Genética Molecular e Ingeniería Genética (curso 2011-2012). Serie 1
, 2011 Problemas de ingeniería genética.
Contreras, Asunción
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective To assess the 12‐month clinical impact of cenobamate (CNB) in adults with drug‐resistant focal epilepsy in clinical practice, exploring whether outcomes differed according to prior antiseizure medication (ASM) exposure. Methods This single‐center, retrospective, observational, real‐world study included 91 adults stratified by the ...
Francesca Cutropia +13 more
wiley +1 more source
Anales de la Facultad de Medicina, 2017 Introducción. Los estudios genéticos preimplantacionales son cada vez más utilizados con la esperanza de conseguir mejores tasas de implantación y nacido vivo, así como una disminución en la tasa de abortos; por ello resulta necesario analizar estos ...
Pamela Villanueva +6 more
doaj +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
wiley +1 more source