(Q54488239)

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Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. (English)

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

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intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

non-syndromic intellectual disability

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based on heuristic

inferred from title

3

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Adamo Pio d'Adamo

8

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

9

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

object named as

Diego Vozzi

6

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Emmanouil Athanasakis

object named as

Emmanouil Athanasakis

1

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author name string

Danilo Licastro

2

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Antonella Fabretto

4

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Savina Dipresa

5

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Anna Morgan

7

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Xevi Biarnés

10

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Paolo Gasparini

11

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Europe PubMed Central

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30 May 2018

http://europepmc.org/abstract/MED/24307393

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4 December 2013

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

164A

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

1

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

170-176

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

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A method and server for predicting damaging missense mutations

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A Dual Binding Mode for RhoGTPases in Plexin Signalling

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Mutations in CIC and FUBP1 contribute to human oligodendroglioma

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

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Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

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Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

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Predicting the functional effect of amino acid substitutions and indels

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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The histone demethylase KDM5b/JARID1b plays a role in cell fate decisions by blocking terminal differentiation

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

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Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

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Implementation of GenePattern within the Stanford Microarray Database.

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Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth

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Neuropilins lock secreted semaphorins onto plexins in a ternary signaling complex

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Gene expression atlas at the European bioinformatics institute

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Structural mechanism of endosome docking by the FYVE domain

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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

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CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons

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CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

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Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Crystal structure of a phosphatidylinositol 3-phosphate-specific membrane-targeting motif, the FYVE domain of Vps27p

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21 January 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

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SIFT: Predicting amino acid changes that affect protein function

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Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

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A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

1 reference

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21 January 2018

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

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21 January 2018

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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Improved splice site detection in Genie

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MutationTaster evaluates disease-causing potential of sequence alterations

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Moving Targets That Drive Cancer Progression

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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

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Plexin-neuropilin-1 complexes form functional semaphorin-3A receptors

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A de novo paradigm for mental retardation.

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Plexin A is a neuronal semaphorin receptor that controls axon guidance

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Role of H3K4 demethylases in complex neurodevelopmental diseases

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Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers

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The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

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Diagnostic exome sequencing in persons with severe intellectual disability

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Identifiers

10.1002/AJMG.A.36274

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24307393

ResearchGate publication ID

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