Results 71 to 80 of about 2,882,377 (304)

Diagnostic applications of next generation sequencing: working towards quality standards [PDF]

, 2012
Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major
Klein, Hanns-Georg, Biskup, S., Vogl, Ina, Hirv, K., Greif, P.A., Kotschote, S., Gehring, A., Kuhn, M., Stuhrmann, Manfred, Bergmann, C., Eck, Sebastian H., Biskup, Saskia, Metzeler, Klaus H., Greif, Philipp A., Stuhrmann, M., Bolz, Hanno Joern, Benet-Pages, Anna, Hirv, Kaimo, Benet-Pagès, A., Klein, H.G., Vogl, I., Bolz, H.J., Kuhn, Marius, Kotschote, Stefan, Gehring, Andrea, Bergmann, Carsten, Metzeler, K.H., Eck, S.H.   +27 more
core   +1 more source

Whole-exome sequencing association analysis of 57 individuals (11 cases with sinusoidal obstruction syndrome and 46 controls), genes with the strongest association, sorted by adjusted association metric.

, 2023
Whole-exome sequencing association analysis of 57 individuals (11 cases with sinusoidal obstruction syndrome and 46 controls), genes with the strongest association, sorted by adjusted association metric.
Marc Ansari (447428), Simona Jurkovic Mlakar (10943896), Maja Krajinovic (31205), Henrique Bittencourt (447430), Isabelle Dupanloup (11326), Claudia E. Kuehni (7583648), Mohamed Aziz Rezgui (15188234), Tiago Nava (11987821), Nicolas Waespe (15188231)   +8 more
core   +1 more source

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Overview of whole exome sequencing data production.

, 2013
Overview of whole exome sequencing data production.
Jia-Jun Lu (350535), Jian-Shan Han (350530), Jin-Quan Wang (350531), Jian-Guo Zhang (48581), Hang-Yang Jin (350529), Rong-Biao Ying (350527), Zhen-Fang Du (350526), Wen-Ting Liu (350534), Jun Fei (350528), Xiao-Ping Qi (350524), Xian-Ning Zhang (350537), Chun-Yue Chen (350533), Xiao-Ling Chen (350532), Ju-Ming Ma (350525)   +13 more
core   +1 more source

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

BMC Pediatrics
Background Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations.
Ruiping Zhang, Xiaoyu Cui, Yan Zhang, Huiqing Ma, Jing Gao, Ying Zhang, Jianbo Shu, Chunquan Cai, Yang Liu   +8 more
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Whole-Exome Sequencing of an Exceptional Longevity Cohort [PDF]

The Journals of Gerontology: Series A, 2018
Abstract Centenarians represent a unique cohort to study the genetic basis for longevity and factors determining the risk of neurodegenerative disorders, including Alzheimer’s disease (AD). The estimated genetic contribution to longevity is highest in centenarians and super-cententenarians, but few genetic variants have been shown to ...
Haakon B, Nygaard, E Zeynep, Erson-Omay, Xiujuan, Wu, Brianne A, Kent, Cecily Q, Bernales, Daniel M, Evans, Matthew J, Farrer, Carles, Vilariño-Güell, Stephen M, Strittmatter   +8 more
openaire   +2 more sources

Whole-exome sequencing result.

, 2023
BackgroundNeurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options ...
Kania Diantika (17283553), Elisabeth Siti Herini (13949002), Andika Priamas Nugrahanto (17283550), Kristy Iskandar (225273), Marissa Leviani Hadiyanto (17283547), Agung Triono (14035002), Veronica Wulan Wijayanti (17283556)   +6 more
core   +1 more source

Advanced Materials for Biologics Delivery to Brain Tumors

Advanced Materials, EarlyView.
Material innovation is central to unlocking the therapeutic potential of biologics against many central nervous system diseases, including brain cancer. By engineering carriers with controlled transport, targeting, and release properties, advanced materials can overcome the blood–brain barrier and tumor microenvironment, improving the delivery of ...
Yuran Feng, Yuxue Cao, Maria Kavallaris, Taskeen Janjua, Amirali Popat   +4 more
wiley   +1 more source