[HTML][HTML] New candidates for autism/intellectual disability identified by whole-exome sequencing
LP Bruno, G Doddato, F Valentino… - International journal of …, 2021 - mdpi.com
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in
the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of …
the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of …
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …
[HTML][HTML] Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations
F Valentino, LP Bruno, G Doddato, A Giliberti, R Tita… - Brain Sciences, 2021 - mdpi.com
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to
neurodevelopmental disorders and occur in~ 1% of the general population. Due to disease …
neurodevelopmental disorders and occur in~ 1% of the general population. Due to disease …
[HTML][HTML] Two genetic mechanisms in two siblings with intellectual disability, autism spectrum disorder, and psychosis
YS Huang, TH Fang, B Kung, CH Chen - Journal of Personalized …, 2022 - mdpi.com
Intellectual disability (ID) and autism spectrum disorder (ASD) are complex
neurodevelopmental disorders with high heritability. To search for the genetic deficits in two …
neurodevelopmental disorders with high heritability. To search for the genetic deficits in two …
[HTML][HTML] Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder
SI Nemirovsky, M Córdoba, JJ Zaiat, SP Completa… - PloS one, 2015 - journals.plos.org
Introduction Clinical genomics promise to be especially suitable for the study of etiologically
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …
[HTML][HTML] Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Abstract Background Intellectual Disability (ID) is among the most common global disorders,
yet etiology is unknown in~ 30% of patients despite clinical assessment. Whole genome …
yet etiology is unknown in~ 30% of patients despite clinical assessment. Whole genome …
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C Redin, B Gérard, J Lauer, Y Herenger… - Journal of medical …, 2014 - jmg.bmj.com
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …
Several hundred genes have been associated to monogenic forms of ID, considerably …
[HTML][HTML] Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
B Al-Mubarak, M Abouelhoda, A Omar, H AlDhalaan… - Scientific reports, 2017 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …
Meta‐analyses support previous and novel autism candidate genes: Outcomes of an unexplored Brazilian cohort
EM da Silva Montenegro, CS Costa… - Autism …, 2020 - Wiley Online Library
Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of
genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder …
genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder …
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
C Bi, J Wu, T Jiang, Q Liu, W Cai, P Yu, T Cai… - Human …, 2012 - Wiley Online Library
Autism spectrum disorders (ASDs) are common neurodevelopmental disorders with a strong
genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional …
genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional …
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