X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. (Q33307788)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18047645%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18047645%20AND%20SRC:MED&resulttype=core&format=json

Xavier Estivill i Pallejà

28 December 2019

author

14

1 reference

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28 December 2019

Irene Madrigal

1

1 reference

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28 December 2019

Eva Gonzalez-Roca

4

1 reference

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28 December 2019

Celia Badenas

6

1 reference

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28 December 2019

Aurora Sanchez Diaz

7

1 reference

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28 December 2019

Francisco Martinez

8

1 reference

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28 December 2019

Maria-Isabel Tejada

12

1 reference

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28 December 2019

Montserrat Milà

15

1 reference

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28 December 2019

author name string

L Rodríguez-Revenga

2

1 reference

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28 December 2019

L Armengol

3

1 reference

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28 December 2019

B Rodriguez

5

1 reference

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28 December 2019

M Guitart

9

1 reference

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28 December 2019

I Fernández

10

1 reference

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28 December 2019

J A Arranz

11

1 reference

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28 December 2019

L A Pérez-Jurado

13

1 reference

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28 December 2019

language of work or name

English

0 references

publication date

29 November 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18047645%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

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28 December 2019

volume

8

1 reference

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28 December 2019

page(s)

443

1 reference

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describes a project that uses

28 December 2019

limma

object named as

LIMMA

2 references

22 June 2022

https://europepmc.org/article/PMC/2234261

based on heuristic

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

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1 reference

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Global variation in copy number in the human genome

21 June 2018

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Accurate and reliable high-throughput detection of copy number variation in the human genome

21 June 2018

1 reference

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 June 2018

1 reference

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 June 2018

1 reference

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

21 June 2018

1 reference

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Structural variants: changing the landscape of chromosomes and design of disease studies

21 June 2018

1 reference

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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 June 2018

1 reference

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Bias of selection on human copy-number variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

21 June 2018

1 reference

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Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

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

21 June 2018

1 reference

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Segmental duplications and copy-number variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Fine-scale structural variation of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Detection of large-scale variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Large-scale copy number polymorphism in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

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

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Polymorphically duplicated genes: their relevance to phenotypic variation in humans

21 June 2018

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

21 June 2018

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Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

21 June 2018

1 reference

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21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2234261

Masquerading repeats: paralogous pitfalls of the human genome

21 June 2018

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

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21 June 2018

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31 October 2018

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31 October 2018

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31 October 2018

1 reference

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31 October 2018

1 reference

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Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18047645

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-8-443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18047645%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 December 2019

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2164-8-443

9 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18047645%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PubMed publication ID

18047645

1 reference