Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure. [PDF]
F S RepTjagur S, Punab M, Dutta A, Laan M.
europepmc +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Correction: Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]
PLoS OnePLOS One Staff.
europepmc +1 more source
Epileptic Disorders, EarlyView.Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori +4 more
wiley +1 more source
Cell-Free DNA Uncovered Tumor Heterogeneity and Informed Targeted Therapy in a Pediatric Rhabdomyosarcoma. [PDF]
JCO Precis OncolFaucher J +15 more
europepmc +1 more source
Genetic testing among patients evaluated for epilepsy surgery
Epileptic Disorders, EarlyView.Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela +7 more
wiley +1 more source
Genetic variants in genes regulating lens epithelial cell homeostasis in dead bag syndrome: part 2. [PDF]
J Cataract Refract SurgSankaranarayanan R +3 more
europepmc +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations
Epilepsia, EarlyView.Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis +8 more
wiley +1 more source
Pathway-Level Reorganization of Genetic Signals Associated with Low Bone Mineral Density Across the Menopausal Transition. [PDF]
Int J Mol SciChoi SE, Kim SK, Kim G, Ban JY, Kang SW.
europepmc +1 more source