(Q78842368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12548747%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD) (English)

1 reference

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17 December 2019

author name string

Plaja A

1

1 reference

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17 December 2019

Mediano C

2

1 reference

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17 December 2019

Cano L

3

1 reference

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17 December 2019

Vendrell T

4

1 reference

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17 December 2019

Sarret E

5

1 reference

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17 December 2019

Farràn I

6

1 reference

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17 December 2019

Sánchez MA

7

1 reference

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17 December 2019

publication date

1 February 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12548747%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 December 2019

published in

1 reference

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17 December 2019

volume

117A

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17 December 2019

page(s)

85-86

1 reference

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17 December 2019

issue

1

1 reference

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Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review

17 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Mitotic disturbance associated with mosaic aneuploidies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Evidence for a human mitotic mutant with pleiotropic effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Chromosome aneuploidy and cancer: lessons from a chromosomal instability syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10810

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.10810

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12548747%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference