(Q34328822)

English

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

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

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

1 reference

Europe PubMed Central

1 August 2017

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haploinsufficiency

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Stephen R Williams

object named as

Stephen R Williams

1

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author name string

Sureni V Mullegama

2

1 reference

Europe PubMed Central

1 August 2017

Jill A Rosenfeld

3

1 reference

Europe PubMed Central

1 August 2017

Aditi I Dagli

4

1 reference

Europe PubMed Central

1 August 2017

Eli Hatchwell

5

1 reference

Europe PubMed Central

1 August 2017

William P Allen

6

1 reference

Europe PubMed Central

1 August 2017

Charles A Williams

7

1 reference

Europe PubMed Central

1 August 2017

Sarah H Elsea

8

1 reference

Europe PubMed Central

1 August 2017

language of work or name

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publication date

11 November 2009

1 reference

Europe PubMed Central

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

18

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Europe PubMed Central

1 August 2017

4

1 reference

Europe PubMed Central

1 August 2017

436-441

1 reference

Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.199

0 references

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

The overlapping spectrum of rett and angelman syndromes: a clinical review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Comparative study of methyl-CpG-binding domain proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

Molecular characterization of de novo secondary trisomy 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

6 July 2018

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.199

21 January 2018

The modular nature of genetic diseases.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.199

21 January 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.199

21 January 2018

Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.199

21 January 2018

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

27 October 2018

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987257

27 October 2018

Partial trisomy 2q

1 reference

https://pubmed.ncbi.nlm.nih.gov/19904302

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of partial trisomy 2q. Case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/19904302

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.199

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2009.199

1 reference

Europe PubMed Central

1 August 2017

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

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