Results 71 to 80 of about 4,368 (158)
Epilepsia, Volume 67, Issue 9, Page 4536-4550, September 2026.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
, 2012 While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum ...
Ho, ACC +8 more
core +1 more source
Strategies and mechanisms of precision genome engineering: From gene editing to genome writing
iMetaOmics, Volume 3, Issue 3, September 2026.In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang +19 more
wiley +1 more source
Frontiers in GeneticsAs the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing.
Cuiting Peng +23 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2017 Objective: We present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. Case Report: A 45-year-old woman and her 52-year-old husband were referred for genetic counseling because ...
Chih-Ping Chen +7 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li +6 more
wiley +1 more source
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism [PDF]
, 2012 aCGH, microduplication ...
E. Piro +5 more
core
, 2014 A. Genomic profile of the microduplication as detected on the NimbleGen Human CGH 385K Chromosome 20 Tiling Array. The detected breakpoints are indicated by arrows. The duplication comprises ∼4.6 kb.
Robert K. Valenzuela (186980) +10 more
core +1 more source
Molecular Cytogenetics, 2018 Background Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those ...
Luca Lovrecic +7 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.This first homozygous 7q31.1 microdeletion with exons 1, 2, and 3 of the IMMP2L gene involvement was diagnosed by CNV‐seq and mate‐pair sequencing, with breakpoints confirmed by Sanger sequencing. Despite a normal prenatal ultrasound, the uncertain long‐term prognosis complicates genetic counseling for this rare CNV.
Cui Chen +5 more
wiley +1 more source