Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. (Q50346552)

5 March 2018

title

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. (English)

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5 March 2018

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Zivilė Ciuladaitė

1

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5 March 2018

Jūratė Kasnauskienė

2

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5 March 2018

Loreta Cimbalistienė

3

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5 March 2018

Eglė Preikšaitienė

4

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5 March 2018

Philippos C Patsalis

5

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5 March 2018

Vaidutis Kučinskas

6

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5 March 2018

publication date

20 September 2011

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5 March 2018

Journal of Applied Genetics

published in

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5 March 2018

volume

52

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5 March 2018

issue

4

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5 March 2018

page(s)

443-449

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5 March 2018

https://scigraph.springernature.com/pub.10.1007/s13353-011-0063-z

exact match

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cites work

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Large, rare chromosomal deletions associated with severe early-onset obesity

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Cognitive and behavioral characterization of 16p11.2 deletion syndrome

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Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

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Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations

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Structural variation of chromosomes in autism spectrum disorder

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Knockout of ERK1 MAP kinase enhances synaptic plasticity in the striatum and facilitates striatal-mediated learning and memory

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: an analysis using a new antibody

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

21 January 2018

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Gene-network analysis identifies susceptibility genes related to glycobiology in autism

21 January 2018

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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12 December 2020

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

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Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

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Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

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10.1007/S13353-011-0063-Z

Identifiers

DOI

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5 March 2018

PubMed ID

21931978

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5 March 2018