Cargando…

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

BACKGROUND: Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. METHODS: To identify the additional genetic contribution to the neurol...

Descripción completa

Detalles Bibliográficos
Autores principales:	García-Hernández, Juan L., Corchete, Luis A., Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871650/ https://www.ncbi.nlm.nih.gov/pubmed/33557955 http://dx.doi.org/10.1186/s40246-021-00309-4

Ejemplares similares

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
por: Lazo, Pedro A., et al.
Publicado: (2020)

Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
por: Morejon-Garcia, Patricia, et al.
Publicado: (2021)

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)

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
por: Marcos, Ana T., et al.
Publicado: (2020)

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
por: Ma, Ruiyu, et al.
Publicado: (2017)

VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes
por: Martín-Doncel, Elena, et al.
Publicado: (2019)

Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
por: Kopal, Jakub, et al.
Publicado: (2023)

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

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
por: Hehir-Kwa, Jayne Y., et al.
Publicado: (2010)

Effectiveness of Neuromotor Task Training for Children with Developmental Coordination Disorder: A Pilot Study
por: Schoemaker, M. M., et al.
Publicado: (2003)

Reduced Mid1 Expression and Delayed Neuromotor Development in daDREAM Transgenic Mice
por: Dierssen, Mara, et al.
Publicado: (2012)

Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia
por: Ge, Huijuan, et al.
Publicado: (2013)

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
por: Owen, David, et al.
Publicado: (2018)

Advances in Neuromotor Stroke Rehabilitation
por: Morone, Giovanni, et al.
Publicado: (2014)

Assessment of emotions and behaviour by the Developmental Behaviour Checklist in young people with neurodevelopmental CNVs
por: Cunningham, Adam C., et al.
Publicado: (2022)

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

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases
por: Buey, Rubén M., et al.
Publicado: (2017)

Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase
por: Fernández‐Justel, David, et al.
Publicado: (2022)

Recent developments in biofeedback for neuromotor rehabilitation
por: Huang, He, et al.
Publicado: (2006)

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

Convergent lines of evidence support BIN1 as a risk gene of Alzheimer’s disease
por: Zhu, Jin, et al.
Publicado: (2021)

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
por: Choucair, Nancy, et al.
Publicado: (2015)

A Neuromotor to Acoustical Jaw-Tongue Projection Model With Application in Parkinson’s Disease Hypokinetic Dysarthria
por: Gómez, Andrés, et al.
Publicado: (2021)

Neuromotor Noise Is Malleable by Amplifying Perceived Errors
por: Hasson, Christopher J., et al.
Publicado: (2016)

Neuromotor Dynamics of Human Locomotion in Challenging Settings
por: Santuz, Alessandro, et al.
Publicado: (2019)

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
por: Puisac, Beatriz, et al.
Publicado: (2018)

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

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
por: Capkova, Zuzana, et al.
Publicado: (2019)

TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs
por: Hertzberg, Jakob, et al.
Publicado: (2022)

NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders
por: Liu, Xuanshi, et al.
Publicado: (2023)

CNVs are associated with genomic architecture in a songbird
por: da Silva, Vinicius H., et al.
Publicado: (2018)

Weight-based nutritional diagnosis of Mexican children and adolescents with neuromotor disabilities
por: Vega-Sanchez, Rodrigo, et al.
Publicado: (2012)

Comparison of characteristics in Mexican women with breast cancer according to healthcare coverage
por: Martinez-Cannon, Bertha Alejandra, et al.
Publicado: (2020)

Neuromotor and sensory development in preterm infants: prospective study
por: Kara, Özgün Kaya, et al.
Publicado: (2020)

Editorial: Multimodal Tracking of Functional Data in Parkinson's Disease and Related Disorders–Speech and Language Neuromotor and Cognitive Assessment
por: Tsanas, Athanasios, et al.
Publicado: (2021)

"GenotypeColour™": colour visualisation of SNPs and CNVs
por: Barlati, Sergio, et al.
Publicado: (2009)

Disease-associated CNVs: zebrafish provide clues
Publicado: (2012)

Extensive load of somatic CNVs in the human placenta
por: Kasak, Laura, et al.
Publicado: (2015)

An analysis of early developmental trauma in social anxiety disorder and posttraumatic stress disorder
por: Bishop, Melanie, et al.
Publicado: (2014)

Assessment of burden and segregation profiles of CNVs in patients with epilepsy
por: Moreau, Claudia, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bk2np8nl23eslgtmdb2pc85vd0