Results 101 to 110 of about 72,857 (290)
, 2019 (A) Grand-averaged CNV at FCz for Cushion × Ball. (B) Topographical maps representing mean amplitudes of the CNV range (-1000 ms—0 ms). (C) The mean amplitude in each condition. Error bars indicate the standard deviation across participants.
Yuji Takeda (178444) +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle +3 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Journal of NeuroinflammationBackground Myeloid cells are heterogeneous cells that are critical for spontaneous choroidal neovascularization (CNV) in the Vldlr −/− mouse model. However, the specific myeloid cell subtype necessary for CNV remains unknown.
Amrita Rajesh +8 more
doaj +1 more source
reservedNumerosi studi genetici hanno stabilito che, oltre alle varianti a singolo nucleotide (SNV) ed alle piccole inserzioni e delezioni (InDels), anche le varianti del numero di copie (CNV) possono causare epilessia o conferire un rischio genetico ...
GASPARI, TOMMASO FRANCESCO
core
, 1986 本工作改变了CNV的常规模式:增加一次警告信号,将按键反应改为分辨以排除CNV中的运动因素,结果发现了二级CNV增大现象和解脱波。据此对现有诸CNV心理因素假说进行了讨论,认为CNV中的心理因素不是单一性的 ...
魏景汉, 尔朱光
core +1 more source
, 2014 CNV area size was evaluated on flatmount on day 7. (A) CNV induced by laser in the mice expressing different levels of GPx4. Scale bar, 500 µm.
Hirotaka Imai (241758) +4 more
core +1 more source
Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing
Animal Research and One Health, EarlyView.Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley +1 more source