(Q77202765)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

review article

1 reference

title

Menkes disease: underlying genetic defect and new diagnostic possibilities (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

N Horn

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

3 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

604-612

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728340%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005479307906

3 December 2019

exact match

0 references

cites work

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

1 reference

12 December 2020

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders

1 reference

12 December 2020

An autopsy case of Menkes kinky hair disease

1 reference

12 December 2020

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

1 reference

12 December 2020

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

1 reference

12 December 2020

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

1 reference

12 December 2020

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1 reference

12 December 2020

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

1 reference

12 December 2020

1 reference

12 December 2020

Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network

1 reference

12 December 2020

Clinical expression of Menkes syndrome in females

1 reference

12 December 2020

Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females

1 reference

12 December 2020

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

12 December 2020

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

1 reference

12 December 2020

Menkes' kinky-hair syndrome.

1 reference

12 December 2020

Identification of point mutations in 41 unrelated patients affected with Menkes disease

1 reference

12 December 2020

Molecular structure of the Menkes disease gene (ATP7A)

1 reference

12 December 2020

Menkes syndrome in a girl with X-autosome translocation

1 reference

12 December 2020

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

12 December 2020

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

12 December 2020

Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

1 reference

12 December 2020

N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.

1 reference

12 December 2020

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1 reference

12 December 2020

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

12 December 2020

Menkes disease: recent advances and new aspects

1 reference

12 December 2020

Early copper-histidine treatment for Menkes disease

1 reference

12 December 2020

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

12 December 2020

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

12 December 2020

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

1 reference

12 December 2020

Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1

1 reference

12 December 2020

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

1 reference

12 December 2020

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

1 reference

12 December 2020

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1 reference

12 December 2020

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

12 December 2020

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease

1 reference

12 December 2020