(Q51667561)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

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18 January 2020

4

1 reference

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18 January 2020

Cecilia Surace

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Carlo Dionisi-Vici

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Pietro Sirleto

1

1 reference

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18 January 2020

Helena Santos

3

1 reference

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18 January 2020

Anna C Tomaiuolo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Antonietta Lombardo

6

1 reference

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18 January 2020

Sara Boenzi

7

1 reference

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18 January 2020

Elsa Bevivino

8

1 reference

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18 January 2020

Adriano Angioni

10

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

1 March 2009

1 reference

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18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

65

1 reference

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18 January 2020

issue

3

1 reference

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18 January 2020

page(s)

347-351

1 reference

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https://scigraph.springernature.com/pub.10.1203/pdr.0b013e3181973b4e

18 January 2020

exact match

0 references

cites work

Cellular copper transport and metabolism

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Replication of X chromosomes in complete moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

X-chromosome inactivation: molecular mechanisms and genetic consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

On the parental origin of de novo mutation in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

21 January 2018

Sex matters in meiosis

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Reciprocal translocations: a trap for cytogenetists?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

Oxidative abnormalities in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181973B4E

10.1203/PDR.0B013E3181973B4E

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092723%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 January 2020

0 references

1 reference