Cargando…

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

BACKGROUND: Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. Copy number variants (CNVs) are known to be frequent causes of these impairments. Howe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859875/ https://www.ncbi.nlm.nih.gov/pubmed/31741789 http://dx.doi.org/10.7717/peerj.7979

Ejemplares similares

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism
por: Capkova, Pavlina, et al.
Publicado: (2019)

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
por: Capkova, Zuzana, et al.
Publicado: (2021)

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy
por: Capkova, Pavlina, et al.
Publicado: (2017)

Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies
por: Capkova, Pavlina, et al.
Publicado: (2020)

Dual Effect of Taxifolin on ZEB2 Cancer Signaling in HepG2 Cells
por: Dostal, Zdenek, et al.
Publicado: (2021)

Early onset nephrotic syndrome with dysmorphic facies and microcephaly
por: Mubarak, Muhammed, et al.
Publicado: (2015)

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
por: Drakulic, Danijela, et al.
Publicado: (2020)

Gardening in the zone of death: an experimental assessment of the absolute elevation limit of vascular plants
por: Dvorský, Miroslav, et al.
Publicado: (2016)

Comorbidity and therapeutic response of body dysmorphic disorder (BDD) in autism spectrum disorder (ASD)
por: Pedrero, A. Alvarez, et al.
Publicado: (2021)

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)
por: Qiao, Ying, et al.
Publicado: (2014)

Lipopolysaccharide treatment suppresses spontaneously developing ankylosing enthesopathy in B10.BR male mice: The potential role of interleukin-10
por: Capkova, Jana, et al.
Publicado: (2012)

CNVs in Epilepsy
por: Mefford, Heather C.
Publicado: (2014)

Target antigens for Hs-14 monoclonal antibody and their various expression in normozoospermic and asthenozoospermic men
por: Capkova, Jana, et al.
Publicado: (2015)

Evaluation of the expression of sperm proteins in normozoospermic and asthenozoospermic men using monoclonal antibodies
por: Capkova, Jana, et al.
Publicado: (2016)

The Effects of Bilirubin and Lumirubin on Metabolic and Oxidative Stress Markers
por: Dvořák, Aleš, et al.
Publicado: (2021)

Bacterial community of cushion plant Thylacospermum ceaspitosum on elevational gradient in the Himalayan cold desert
por: Řeháková, Klára, et al.
Publicado: (2015)

Low Specific Phosphorus Uptake Affinity of Epilithon in Three Oligo- to Mesotrophic Post-mining Lakes
por: Konopáčová, Eliška, et al.
Publicado: (2021)

CNVs in neurodevelopmental disorders
por: Lee, Chun-Ting, et al.
Publicado: (2015)

Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines
por: Wickstrom, Jordan, et al.
Publicado: (2021)

An efficient, non-invasive approach for in-vivo sampling of hair follicles: design and applications in monitoring DNA damage and aging
por: Kudlova, Natalie, et al.
Publicado: (2021)

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
por: Pavone, Piero, et al.
Publicado: (2019)

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
por: Lou, Xiaoting, et al.
Publicado: (2021)

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
por: Cochoy, Daniela M, et al.
Publicado: (2015)

Association of CNVs with methylation variation
por: Shi, Xinghua, et al.
Publicado: (2020)

Epithelial to mesenchymal transition and microRNA expression are associated with spindle and apocrine cell morphology in triple-negative breast cancer
por: Koleckova, Marketa, et al.
Publicado: (2021)

Editorial: Telomere Flexibility and Versatility: A Role of Telomeres in Adaptive Potential
por: Čapková Frydrychová, Radmila, et al.
Publicado: (2021)

Pandemic-related determinants of depression in Czech older persons: Evidence from the HAPIEE cohort: Andrea Dalecká
por: Dalecká, A, et al.
Publicado: (2022)

The Effects of Bilirubin and Lumirubin on the Differentiation of Human Pluripotent Cell-Derived Neural Stem Cells
por: Capková, Nikola, et al.
Publicado: (2021)

Vegetation dynamics at the upper elevational limit of vascular plants in Himalaya
por: Dolezal, Jiri, et al.
Publicado: (2016)

A Snapshot of CNVs in the Pig Genome
por: Fadista, João, et al.
Publicado: (2008)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

The Periphery of Salivary Gland Carcinoma Tumors Reveals a PD-L1/PD-1 Biomarker Niche for the Evaluation of Disease Severity and Tumor—Immune System Interplay
por: Kuchar, Martin, et al.
Publicado: (2021)

Fas-Fas Ligand Interplay in the Periphery of Salivary Gland Carcinomas as a New Checkpoint Predictor for Disease Severity and Immunotherapy Response
por: Strizova, Zuzana, et al.
Publicado: (2021)

Outcomes According to MSKCC Risk Score with Focus on the Intermediate-Risk Group in Metastatic Renal Cell Carcinoma Patients Treated with First-Line Sunitinib: A Retrospective Analysis of 2390 Patients
por: Fiala, Ondrej, et al.
Publicado: (2020)

Sex-related differences in clinical characteristics of children with ASD without ID: Results from the ELENA cohort
por: Dellapiazza, Florine, et al.
Publicado: (2022)

Microcephaly
por: Hanzlik, Emily, et al.
Publicado: (2017)

Trait-Based Dimensions Discriminating Adults with Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD) and, Co-occurring ADHD/ASD
por: Pehlivanidis, Artemios, et al.
Publicado: (2020)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
por: Lo-A-Njoe, Shirley, et al.
Publicado: (2016)

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism()
por: Hoppe, Anne, et al.
Publicado: (2014)

Determinants of depressive symptoms increase in older persons during the COVID-19 pandemic: evidence from Czech cohort study using repeated assessments
por: Dalecká, Andrea, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_u14ervvvntse604669qlcvf3am