Results 91 to 100 of about 1,021,105 (352)

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

BMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong   +5 more
doaj   +1 more source

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 more
doaj   +1 more source

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Clinical Genetics, 2020
EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders.
G. Seo, Taeho Kim, I. Choi, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong-Gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, H. Kang, H. Cho, M. Cho, Y. Kim, Y. Yoon, B. Eun, R. Desnick, Changwon Keum, B. Lee   +19 more
semanticscholar   +1 more source

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang, Amerta Bai, Felipe Rodridgues Marques Ferreira, Sandipan Pati, Thaddeus Walczak, Benjamin Miller, Oladi Bentho, Thomas Henry, Ilo Leppik, Minoo Shams, Zhiyi Sha, Zachary Sanger, Theoden I. Netoff, Thomas Lisko, Anant Naik, Robert McGovern III, Sima Patel   +16 more
wiley   +1 more source

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

BMC Medical Genomics
Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders.
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu   +8 more
doaj   +1 more source

Whole Exome Sequencing in Atrial Fibrillation.

PLoS Genetics, 2016
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, NHLBI GO Exome Sequencing Project, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin   +24 more
doaj   +1 more source