Distal Xq duplication and functional Xq disomy. (Q37114117)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

review article

2 references

24 November 2020

Distal Xq duplication and functional Xq disomy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

sex chromosome aberration

21 January 2020

main subject

6 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

24 November 2020

sex chromosome disorder

6 references

22 April 2019

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30 June 2019

14 September 2019

12 October 2019

24 November 2020

1 reference

14 September 2019

1 reference

12 October 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Caroline Schluth-Bolard

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Catherine Turleau

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

1 reference

20 February 2009

7 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

24 November 2020

Orphanet Journal of Rare Diseases

7 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

24 November 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

4

1 reference

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Creative Commons Attribution 2.0 Generic

21 January 2020

copyright license

6 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

on focus list of Wikimedia project

24 November 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-4-4

0 references

cites work

Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

14 September 2017

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14 September 2017

XLMR genes: update 2007.

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

14 September 2017

1 reference

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

14 September 2017

1 reference

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

14 September 2017

1 reference

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X-linked mental retardation: many genes for a complex disorder

14 September 2017

1 reference

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

14 September 2017

1 reference

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

14 September 2017

1 reference

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

14 September 2017

1 reference

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The DNA sequence of the human X chromosome

14 September 2017

1 reference

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Functional disomy of the Xq28 chromosome region

14 September 2017

1 reference

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

14 September 2017

1 reference

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

A stain upon the silence: genes escaping X inactivation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Genome architecture, rearrangements and genomic disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

The causes and consequences of random and non-random X chromosome inactivation in humans

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Molecular cytogenetic identification of four X chromosome duplications

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

A familial Xp+ chromosome, dup (Xq26.3-->qter).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

The critical region on the human Xq.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Mutations in the chromatin-associated protein ATRX.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Disomy of distal Xq in males: case report and overview.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649904

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

4 December 2018

1 reference

12 December 2020

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

1 reference

12 December 2020

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

1 reference

12 December 2020

Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome

1 reference

12 December 2020

A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes

1 reference

12 December 2020

X-autosome translocations: cytogenetic characteristics and their consequences

1 reference

12 December 2020

Physical mapping of an Xq-proximal interstitial duplication in a male

1 reference

12 December 2020

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-4-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 January 2020

1008361944

0 references

Fatcat ID

release_mppjw7gcdbbwvanut4kmf7lx7m

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mppjw7gcdbbwvanut4kmf7lx7m

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19232094%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference