Severe intellectual disability and autistic features associated with microduplication 2q23.1. (Q35837621)

10 August 2017

Severe intellectual disability and autistic features associated with microduplication 2q23.1. (English)

1 reference

disability affecting intellectual abilities

10 August 2017

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intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

9

Stephen W Scherer

1 reference

10 August 2017

Roberto Mendoza-Londono

object named as

Roberto Mendoza-Londono

13

0 references

Rosanna Weksberg

5

object named as

Rosanna Weksberg

1 reference

10 August 2017

Brian H Y Chung

1

1 reference

10 August 2017

Sureni Mullegama

2

1 reference

10 August 2017

Christian R Marshall

3

1 reference

10 August 2017

Anath C Lionel

4

1 reference

10 August 2017

Lucie Dupuis

6

1 reference

10 August 2017

Lauren Brick

7

1 reference

10 August 2017

Chumei Li

8

1 reference

10 August 2017

Swaroop Aradhya

10

1 reference

10 August 2017

D James Stavropoulos

11

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10 August 2017

Sarah H Elsea

12

1 reference

10 August 2017

16 November 2011

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European Journal of Human Genetics

10 August 2017

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10 August 2017

20

1 reference

10 August 2017

4

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10 August 2017

398-403

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Functional impact of global rare copy number variation in autism spectrum disorders

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

A genome-wide association study of alcohol dependence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Copy-number variation in control population cohorts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Severe expressive-language delay related to duplication of the Williams-Beuren locus

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Diagnostic genome profiling in mental retardation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Developmental delay and the methyl binding genes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306850

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22085900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges in clinical interpretation of microduplications detected by array CGH analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22085900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.199

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22085900

1 reference