(Q34688430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

review article

1 reference

title

High-resolution genomic microarrays for X-linked mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Hans van Bokhoven

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1

Dorien Lugtenberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

1 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

560-565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873643%20AND%20SRC:MED&resulttype=core&format=json

Genome-wide atlas of gene expression in the adult mouse brain

7 January 2020

cites work

1 reference

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Molecular and comparative genetics of mental retardation

21 January 2018

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

21 January 2018

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

21 January 2018

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Isolation of a candidate gene for Norrie disease by positional cloning

21 January 2018

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FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

21 January 2018

1 reference

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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

21 January 2018

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A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

21 January 2018

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

21 January 2018

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Rho proteins and the cellular mechanisms of mental retardation.

21 January 2018

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X-linked mental retardation

21 January 2018

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The role of neuronal complexes in human X-linked brain diseases

21 January 2018

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

21 January 2018

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

21 January 2018

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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

21 January 2018

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

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

21 January 2018

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X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

21 January 2018

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

21 January 2018

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Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

21 January 2018

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Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

21 January 2018

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

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Molecular karyotyping using an SNP array for genomewide genotyping.

21 January 2018

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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

21 January 2018

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields

21 January 2018

1 reference

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

21 January 2018

1 reference

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ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

21 January 2018

1 reference

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E647

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E647

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E647

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E647

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

21 January 2018

1 reference

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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

21 January 2018

1 reference

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Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

21 January 2018

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Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

21 January 2018

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

21 January 2018

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Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

21 January 2018

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An initial map of insertion and deletion (INDEL) variation in the human genome.

21 January 2018

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Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 January 2018

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Segmental duplications and copy-number variation in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Common deletion polymorphisms in the human genome.

21 January 2018

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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

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