Cargando…

Copy number variations in Saudi family with intellectual disability and epilepsy

BACKGROUND: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and e...

Descripción completa

Detalles Bibliográficos
Autores principales:	Naseer, Muhammad I., Chaudhary, Adeel G., Rasool, Mahmood, Kalamegam, Gauthaman, Ashgan, Fai T., Assidi, Mourad, Ahmed, Farid, Ansari, Shakeel A., Zaidi, Syed Kashif, Jan, Mohammed M., Al-Qahtani, Mohammad H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073808/ https://www.ncbi.nlm.nih.gov/pubmed/27766957 http://dx.doi.org/10.1186/s12864-016-3091-6

Ejemplares similares

Role of the antineoplastic drug bleomycin based on toxicogenomic-DNA damage inducing (TGx-DDI) genomic biomarkers data: A meta-analysis
por: Pushparaj, Peter Natesan, et al.
Publicado: (2023)

Exploration of potential molecular mechanisms and genotoxicity of anti-cancer drugs using next generation knowledge discovery methods
por: Pushparaj, Peter Natesan, et al.
Publicado: (2023)

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family
por: Naseer, Muhammad Imran, et al.
Publicado: (2019)

Cytokines secreted by human Wharton's jelly stem cells inhibit the proliferation of ovarian cancer (OVCAR3) cells in vitro
por: Kalamegam, Gauthaman, et al.
Publicado: (2019)

Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy
por: Kessi, Miriam, et al.
Publicado: (2018)

Unraveling the Catha edulis Extract Effects on the Cellular and Molecular Signaling in SKOV3 Cells
por: Abou-Elhamd, Alaa Sayed, et al.
Publicado: (2021)

The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights
por: Abu-Elmagd, Muhammad, et al.
Publicado: (2016)

Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Decoding the Role of Astrocytes in the Entorhinal Cortex in Alzheimer’s Disease Using High-Dimensional Single-Nucleus RNA Sequencing Data and Next-Generation Knowledge Discovery Methodologies: Focus on Drugs and Natural Product Remedies for Dementia
por: Pushparaj, Peter Natesan, et al.
Publicado: (2022)

Deciphering the Association of Cytokines, Chemokines, and Growth Factors in Chondrogenic Differentiation of Human Bone Marrow Mesenchymal Stem Cells Using an ex vivo Osteochondral Culture System
por: Jafri, Mohammad Alam, et al.
Publicado: (2020)

Disease associated cellular machinery in anaphylaxis – And the de novo paradigm shift
por: Pushparaj, Peter Natesan, et al.
Publicado: (2015)

Anti-cancer effects of Ajwa dates (Phoenix dactylifera L.) in diethylnitrosamine induced hepatocellular carcinoma in Wistar rats
por: Khan, Fazal, et al.
Publicado: (2017)

Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia
por: Rasool, Mahmood, et al.
Publicado: (2020)

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
por: Fry, Andrew E., et al.
Publicado: (2016)

Method of delivery of bone marrow stem cells to the articular joint influences their survival during arthroscopy
por: Al Nono, Reham, et al.
Publicado: (2014)

Intellectual disability in patients with epilepsy with eyelid myoclonias
por: Arvio, Maria, et al.
Publicado: (2018)

Human Wharton's Jelly Stem Cell (hWJSC) Extracts Inhibit Ovarian Cancer Cell Lines OVCAR3 and SKOV3 in vitro by Inducing Cell Cycle Arrest and Apoptosis
por: Kalamegam, Gauthaman, et al.
Publicado: (2018)

Corrigendum: Human Wharton’s Jelly stem cell (hWJSC) extracts inhibit ovarian cancer cell lines OVCAR3 and SKOV3 in vitro by inducing cell cycle arrest and apoptosis
por: Kalamegam, Gauthaman, et al.
Publicado: (2023)

Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability
por: Karim, Sajjad, et al.
Publicado: (2023)

Anesthesia for intellectually disabled
por: Chaudhary, Kapil, et al.
Publicado: (2017)

Evaluation of the Effects of Airborne Particulate Matter on Bone Marrow-Mesenchymal Stem Cells (BM-MSCs): Cellular, Molecular and Systems Biological Approaches
por: Abu-Elmagd, Muhammad, et al.
Publicado: (2017)

Evaluation of the effect of Nigella sativa extract on human hepatocellular adenocarcinoma cell line (HepG2) in vitro
por: Khan, Fazal, et al.
Publicado: (2014)

Pelleted Bone Marrow Derived Mesenchymal Stem Cells Are Better Protected from the Deleterious Effects of Arthroscopic Heat Shock
por: Kalamegam, Gauthaman, et al.
Publicado: (2016)

In-Silico Characterization and in-Vivo Validation of Albiziasaponin-A, Iso-Orientin, and Salvadorin Using a Rat Model of Alzheimer's Disease
por: Rasool, Mahmood, et al.
Publicado: (2018)

A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family
por: Naseer, Muhammad Imran, et al.
Publicado: (2017)

Mutations in HECW2 are associated with intellectual disability and epilepsy
por: Halvardson, Jonatan, et al.
Publicado: (2016)

Under representation of people with epilepsy and intellectual disability in research
por: Shankar, Rohit, et al.
Publicado: (2018)

Role of Nanodiamonds in Drug Delivery and Stem Cell Therapy
por: Ansari, Shakeel Ahmed, et al.
Publicado: (2016)

Epilepsy: knowledge, attitude and awareness in Jeddah Saudi Arabia
por: Haneef, Deena Fuad, et al.
Publicado: (2014)

Behavioral disorder in people with an intellectual disability and epilepsy: A report of the Intellectual Disability Task Force of the Neuropsychiatric Commission of ILAE
por: Kerr, Mike, et al.
Publicado: (2016)

Intelligence quotient is associated with epilepsy in children with intellectual disability in India
por: Lakhan, Ram
Publicado: (2013)

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Ajwa Date (Phoenix dactylifera L.) Extract Inhibits Human Breast Adenocarcinoma (MCF7) Cells In Vitro by Inducing Apoptosis and Cell Cycle Arrest
por: Khan, Fazal, et al.
Publicado: (2016)

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family
por: Naseer, Muhammad I., et al.
Publicado: (2018)

Incidence and potential causative factors associated with chronic benign neutropenia in the Kingdom of Saudi Arabia
por: Gari, Mamdooh, et al.
Publicado: (2015)

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Molecular docking of resveratrol with known protein structures as well as high-throughput meta-data analyses uncork the “French Paradox” and its potential “Druggable” targets in humans
por: Pushparaj, Peter Natesan, et al.
Publicado: (2014)

Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma
por: Dolton, Emily, et al.
Publicado: (2014)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy
por: Dyment, David A., et al.
Publicado: (2019)

Neuro2D Lies at the Nexus of Autism, Epilepsy, and Intellectual Disabilities
por: Bordey, Angelique
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6jchvkd2n5cdd9q59v3q6qed3t