Results 221 to 230 of about 908,392 (296)

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Frontiers in Genetics
Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli   +5 more
doaj   +1 more source

Detection and functional assessment of structural variants using whole-genome re-sequencing data in Nellore cattle. [PDF]

Sci Rep
Marín-Garzón NA, Mota LFM, Vargas G, Arikawa LM, Fonseca LFS, Fernandes Júnior GA, Carvalheiro R, Albuquerque LG.   +7 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

SDFA: a standardized decomposition format and toolkit for efficient analysis of structural variants in large-scale population genomic studies. [PDF]

Genome Biol
Peng W, Zhang L, Tang B, Liang J, Liu Z, Ye L, Yuan Y, Wang Y, Tan R, Lin N, Xue C, Jiang H, Fang L, Li M.   +13 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

An optimised computational approach for the identification of somatic structural variants in cancer

Waise S, Mensah N, Lesluyes T, Demeulemeester J, Flanagan A, Pillay N, Van Loo P.   +6 more
europepmc   +1 more source

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene. [PDF]

Cell Genom
Sonehara K, Watanabe R, Matsumura Y, Mitsui Y, Ogawa Y, Odomari K, Sakaue S, Namba S, Komuro M, Edamoto M, Watanabe J, Hirota T, Arase N, Nakamura Y, Nakajima K, Okamoto T, Nishikawa R, Yamamoto K, Suzuki K, Kishikawa T, Edahiro R, Shirai Y, Naito T, Sasa N, Ishitsuka Y, Furuta J, Kunimoto K, Kajihara I, Fukushima S, Miyachi H, Matsue H, Kamata M, Momose M, Miyagawa I, Tanaka H, Ueno M, Bito T, Nagai H, Ikeda T, Horikawa T, Adachi A, Matsubara T, Nishida E, Biobank Japan Project, Matsuda K, Shojima N, Nakagawa I, Asano Y, Sato S, Imafuku S, Tada Y, Nishigori C, Jinnin M, Ihn H, Asahina A, Saeki H, Yamauchi T, Kadowaki T, Kawamura T, Shimada S, Katayama I, Higasa K, Noguchi E, Sano S, Tanaka Y, Matsuda F, Kumanogoh A, Tamari M, Satoh T, Fujimoto M, Morita A, Okada Y.   +71 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Putting Structural Variants Into Practice: The Role of Chromosomal Inversions in the Management of Marine Environments. [PDF]

Mol Ecol
Schneller NM, Strugnell JM, Field MA, Johannesson K, Cooke I.   +4 more
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source