Results 61 to 70 of about 114,077 (305)

CNVs in neuropsychiatric disorders [PDF]

Human Molecular Genetics, 2015
Over the last few years at least 11 copy number variations (CNVs) have been shown convincingly to increase risk to developing schizophrenia: deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3 and 22q11.2, and duplications at 1q21.1, 7q11.23, 15q11.2-q13.1, 16p13.1 and proximal 16p11.2.
openaire   +2 more sources

Association of CDKN2A/B Homozygous Deletion and Extent of Resection With Survival of Patients With WHO CNS5 Grade 4 Astrocytoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives WHO grade 4 astrocytomas are associated with poor prognosis, and their prognostic factors remain controversial. This study aimed to identify the prognostic factors and develop a management algorithm for these patients. Methods This study retrospectively included 151 CNS5 adult grade 4 astrocytomas from two medical centers.
Jiawei Cai, Guanglin Zhu, Qiu He, Chen Luo, Lingyun Zhuo, Xingfu Wang, Yiming Chen, Xiaoyong Chen, Wendong You, Jiaheng Xu, Yuanxiang Lin, Dezhi Kang, Shuai Wu, Zanyi Wu   +13 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Anti-vascular endothelial growth factor therapy for posterior segment diseases: Progress, challenges, and the road ahead

Indian Journal of Ophthalmology
The emergence of anti-vascular endothelial growth factor (anti-VEGF) therapy has marked a paradigm shift in the treatment of retinal and choroidal vascular diseases.
Chitaranjan Mishra, Nabatika Mohanty, Somy Purohit, Udayasree Orugonda, Vaishnavi Patil   +4 more
doaj   +1 more source

Factors associated with the recurrence of choroidal neovascularization in pathologic myopia

Frontiers in Medicine, 2022
PurposeTo investigate the factors associated with the recurrence of pathologic myopia choroidal neovascularization (PM-CNV).MethodsForty-eight eyes of 48 patients with PM-CNV treated with conbercept at least 6 months of follow-up were included ...
Ruixia Jing, Yuxia Bo, Lei Gao, Zhen Wang   +3 more
doaj   +1 more source

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +1 more source

Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay [PDF]

Genetics Selection Evolution, 2010
Repeated blocks of genome sequence have been shown to be associated with genetic diversity and disease risk in humans, and with phenotypic diversity in model organisms and domestic animals. Reliable tests are desirable to determine whether individuals are carriers of copy number variants associated with disease risk in humans and livestock, or ...
Henshall, John M., Whan, Vicki A., Norris, Belinda J.   +2 more
openaire   +4 more sources

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

RPE disruption and hyper-transmission are early signs of secondary CNV with punctate inner choroidopathy in structure-OCT

BMC Ophthalmology, 2021
Purpose To study whether retinal pigment epithelium (RPE) disruption and choroidal hyper-transmission on spectral-domain optical coherence tomography (SD-OCT) are signs of inflammatory neovascularization (CNV) in punctate inner choroidopathy (PIC ...
Yanru Chen, Qian Chen, Xiaoxin Li, Minghan Li   +3 more
doaj   +1 more source

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source