(Q77464422)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9788559%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

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

1 reference

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5 December 2019

1 reference

Y Sugio

1

1 reference

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5 December 2019

Y Sugio

2

1 reference

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5 December 2019

A Kuwano

3

1 reference

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5 December 2019

O Miyoshi

4

1 reference

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5 December 2019

K Yamada

5

1 reference

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5 December 2019

N Niikawa

6

1 reference

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5 December 2019

M Tsukahara

7

1 reference

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5 December 2019

publication date

1 September 1998

1 reference

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American Journal of Medical Genetics Part A

5 December 2019

published in

1 reference

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5 December 2019

volume

79

1 reference

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5 December 2019

issue

3

1 reference

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5 December 2019

page(s)

191-194

1 reference

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

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

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

21 January 2018

1 reference

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Linkage studies in Menkes' disease. The Xg blood group system and C-banding of the X chromosome

21 January 2018

1 reference

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A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

Menkes syndrome in a girl with X-autosome translocation

21 January 2018

1 reference

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A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient

21 January 2018

1 reference

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

21 January 2018

1 reference

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Incidence of Menkes disease

21 January 2018

1 reference

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Replication of X chromosomes in complete moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980923%2979%3A3%3C191%3A%3AAID-AJMG7%3E3.0.CO%3B2-Q

10.1002/(SICI)1096-8628(19980923)79:3<191::AID-AJMG7>3.0.CO;2-Q

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9788559%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference