Results 161 to 170 of about 122,453 (313)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing [PDF]

Daniel Bengl, Asuman Koparır, Wahyu Eka Prastyo, Christian W. Remmele, Marcus Dittrich, Sophie Flandin, Wafaa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter   +9 more
openalex   +1 more source

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry [PDF]

, 2023
Zarko Manojlovic, Allyn Auslander, Yuxin Jin, Ryan J. Schmidt, Yili Xu, Sharon B. Chang, Ruocen Song, Sue A. Ingles, Alana Nunes, Kevin C. Vavra, Devin Feigelson, Sylvia R Rakotoarison, Melissa DiBona, Kathy Magee, Operation Smile, Anjaramamy Ramamonjisoa, William P. Magee   +16 more
openalex   +1 more source

Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples [PDF]

, 2023
Shuangxi Ji, Tong Zhu, Ankit Sethia, Wenyi Wang   +3 more
openalex   +1 more source

The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling [PDF]

, 2014
Lucy-Enid Ding, Leslie Burnett, Douglas Chesher   +2 more
openalex   +1 more source

Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

, 2018
Dina Vojinović, Maryam Kavousi, Mohsen Ghanbari, Rutger W. W. Brouwer, Jeroen van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Wilfred F. J. van IJcken, André G. Uitterlinden, Cornelia M. van Duijn, Najaf Amin   +10 more
openalex   +1 more source

Ethical and legal implications of whole genome and whole exome sequencing in African populations [PDF]

, 2013
Galen E.B. Wright, Pieter Koornhof, Adebowale Adeyemo, Nicki Tiffin   +3 more
openalex   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source