Results 201 to 210 of about 227,823 (308)

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
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

First Identification of a Heterozygous RNU4-2 and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations. [PDF]

Prenat Diagn
Abaji M, Gerard B, Nasca L, Fritih R, Blanc J, Castel P, D'Ercole C, Levy-Mozziconacci A.   +7 more
europepmc   +1 more source

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases. [PDF]

EBioMedicine
Tusseau M, Khaldi-Plassart S, Labalme A, Mathieu AL, Riller Q, Molitor C, Simonet T, Viel S, Gaboriaud C, Thielens N, Heiser L, Chopin E, Rouvet I, Fabien N, Goncalves D, Fremeaux-Bacchi V, El-Sissy C, Pottier N, Larrue R, Ranchin B, Laurent A, Fouillet-Desjonqueres M, Jouret M, Mekinian A, Yamashita M, Morio T, Hachulla E, Melki I, Kone-Paut I, Ballot C, Reumaux H, Pillet P, Harambat J, Richez C, Richer O, Hatchuel Y, Louillet F, Lega JC, Durieu I, Welfringer-Morin A, Picard C, Messadi W, Sarrot-Reynauld F, Sanlaville D, Bader-Meunier B, Walzer T, Lesca G, Rieux-Laucat F, Belot A, GENIAL/LUMUGENE Collaborators.   +49 more
europepmc   +1 more source

Meta-analysis of exome array data identifies six novel genetic loci for lung function [version 3; referees: 2 approved] [PDF]

, 2018
et al,, Kraja, Aldi, Province, Michael A
core   +1 more source

Variations in DNA Repair Genes and Intratumoral Genetic Heterogeneity in Temozolomide-Resistant Glioblastoma. [PDF]

Hum Mutat
Chen W, Li C, Liu Y, Huang H.
europepmc   +1 more source

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]

Cerebellum
Thomsen M, Borsche M, Yépez VA, Rasche D, Ullrich KK, Tadic V, Abdelwakeel SM, Busch H, Franzenburg S, Trinh J, Klein C, Lohmann K, Brüggemann N.   +12 more
europepmc   +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

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Advances in Laboratory Medicine, 2020
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia   +5 more
doaj   +1 more source

Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing. [PDF]

J Community Genet
do Valle DA, de Haro Figueiredo B, Araldi GC, Sachetim GPB, Barby IM, Aihara LA, Ferreiro MR, de Andrade FA, Santos MLSF, Zeny MS, de Souza J, Rare Genomes Project Consortium .   +11 more
europepmc   +1 more source