Results 301 to 310 of about 1,695,985 (356)

A clinically feasible algorithm for the parallel detection of glioma-associated copy number variation markers based on shallow whole genome sequencing. [PDF]

J Pathol Clin Res
Wu S, Ma C, Cai J, Yang C, Liu X, Luo C, Yang J, Xiong Z, Cao D, Chen H.   +9 more
europepmc   +1 more source

Novel Association Strategy with Copy Number Variation for Identifying New Risk Loci of Human Diseases

, 2010
Xianfeng Chen, Xinlei Li, Ping Wang, Yang Liu, Zhenguo Zhang, Guoping Zhao, Haiming Xu, Jun Zhu, Xueying Qin, Suchao Chen, Landian Hu, Xiangyin Kong   +11 more
openalex   +2 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Copy number variation and population-specific immune genes in the model vertebrate zebrafish. [PDF]

Elife
Schäfer Y, Palitzsch K, Leptin M, Whiteley AR, Wiehe T, Suurväli J.   +5 more
europepmc   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

Comprehensive analysis of flavohemoprotein copy number variation in Giardia intestinalis: exploring links to metronidazole resistance. [PDF]

Parasit Vectors
Korenková V, Weisz F, Perglerová A, Cacciò SM, Nohýnková E, Tůmová P.   +5 more
europepmc   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang, Haiting Li, Xiaoping Du, Qiong Wang, Yating Zhang, Huifang Wang   +5 more
wiley   +1 more source

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

BMC Med Genomics
Atik T, Avci Durmusalioglu E, Isik E, Kose M, Kanmaz S, Aykut A, Durmaz A, Ozkinay F, Cogulu O.   +8 more
europepmc   +1 more source

Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro, Manuela Dicarlo, Chiara Zecca, Daniele Urso, Maria Teresa Dell'Abate, Davide Vilella, Francesco Borlizzi, Roberta Zerlotin, Angela Oranger, Graziana Colaianni, Silvia Colucci, Maria Grano, Giancarlo Logroscino   +12 more
wiley   +1 more source

Improving Documentation Rates of Contraception and Reproductive Planning in Patients With Rheumatic Disease

Arthritis Care &Research, EarlyView.
Objective This study aimed to improve contraception and reproductive planning documentation within rheumatology providers’ notes at a single academic center. Methods Female patients aged 18 to 45 years with autoimmune inflammatory rheumatic diseases were identified, and chart review was performed for documentation of contraception and pregnancy ...
Benjamin Moon, Puneet Bajaj, Megan Clowse, James Roberts, Kathryn Dao, Bonnie L. Bermas, Brooke S. Mills   +6 more
wiley   +1 more source