(Q35818473)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22264391%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Clinical expression of Menkes disease in females with normal karyotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22264391%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

0 references

1 reference

1

1 reference

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20 January 2020

Zeynep Tumer

12

1 reference

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20 January 2020

author name string

Malgorzata Lenartowicz

2

1 reference

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20 January 2020

Marie-Therese Zabot

3

1 reference

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20 January 2020

Arnaud Josiane

4

1 reference

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20 January 2020

Lydie Burglen

5

1 reference

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20 January 2020

Chris Bennett

6

1 reference

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20 January 2020

Daniel Riconda

7

1 reference

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20 January 2020

Richard Fisher

8

1 reference

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20 January 2020

Sandra Janssens

9

1 reference

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20 January 2020

Shehla Mohammed

10

1 reference

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20 January 2020

Margreet Ausems

11

1 reference

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20 January 2020

Nina Horn

13

1 reference

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20 January 2020

Thomas G Jensen

14

1 reference

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20 January 2020

publication date

22 January 2012

1 reference

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Orphanet Journal of Rare Diseases

20 January 2020

published in

1 reference

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20 January 2020

volume

7

1 reference

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20 January 2020

page(s)

6

1 reference

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Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

X-inactivation profile reveals extensive variability in X-linked gene expression in females

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Molecular genetics and pathophysiology of Menkes disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Menkes X linked disease: two clonal cell populations in heterozygotes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Incidence of Menkes disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

An autopsy case of Menkes kinky hair disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

X inactivation in females with X-linked disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298521

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ 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=3298521

Clinical expression of Menkes disease in a girl with X;13 translocation

24 September 2018

1 reference

12 December 2020

Menkes syndrome in a girl with X-autosome translocation

1 reference

12 December 2020

Clinical expression of Menkes syndrome in females

1 reference

12 December 2020

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease

1 reference

12 December 2020

X Inactivation in Females with X-Linked Disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22264391%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22264391%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

22264391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22264391%20AND%20SRC:MED&resulttype=core&format=json