Results 111 to 120 of about 1,163,135 (344)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

An Annotated List of Genotypes of the Chloropidae of the World (Diptera)1 [PDF]

, 1941
Curtis W. Sabrosky
openalex   +1 more source

Redundancy in Genotyping Arrays

PLoS ONE, 2007
Despite their unprecedented density, current SNP genotyping arrays contain large amounts of redundancy, with up to 40 oligonucleotide features used to query each SNP. By using publicly available reference genotype data from the International HapMap, we show that 93.6% sensitivity at
Smemo, Scott, Borevitz, Justin O.
openaire   +6 more sources

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source

SLAF-seq: An Efficient Method of Large-Scale De Novo SNP Discovery and Genotyping Using High-Throughput Sequencing

PLoS ONE, 2013
Large-scale genotyping plays an important role in genetic association studies. It has provided new opportunities for gene discovery, especially when combined with high-throughput sequencing technologies.
Xiaowen Sun, Dongyuan Liu, Xiaofeng Zhang, Wenbin Li, Hui Liu, Weiguo Hong, Chuanbei Jiang, Ning Guan, Chouxian Ma, Huaping Zeng, Chunhua Xu, Jun Song, Long Huang, Chunmei Wang, Junjie Shi, Rui Wang, Xianhu Zheng, Cui-yun Lu, Xiaowu Wang, Hongkun Zheng   +19 more
semanticscholar   +1 more source

Thalassemia: genotypes and phenotypes

Annals of Hematology, 1991
The large degree of phenotypic heterogeneity of thalassemia can now be related to the underlying genomic defects. This information has accumulated rapidly over the last years through the recent advances in molecular technology. The list of main types of thalassemia (alpha or beta) that can be differentiated includes several gene deletions (complete or ...
openaire   +6 more sources

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

The Genotype of Loxonema, Phill. [PDF]

, 1909
Jane Longstaff
openalex   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source