(Q40693831)

22 September 2017

title

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis (English)

1 reference

22 September 2017

1 reference

Voula Velissariou

1

1 reference

22 September 2017

Thalia Antoniadi

2

1 reference

22 September 2017

Jolanda Gyftodimou

3

1 reference

22 September 2017

Katerina Bakou

4

1 reference

22 September 2017

Maria Grigoriadou

5

1 reference

22 September 2017

Stavroula Christopoulou

6

1 reference

22 September 2017

Athina Hatzipouliou

7

1 reference

22 September 2017

Jackie Donoghue

8

1 reference

22 September 2017

Panagiotis Karatzis

9

1 reference

22 September 2017

Efstathia Katsarou

10

1 reference

22 September 2017

Michael B Petersen

11

1 reference

22 September 2017

publication date

1 November 2002

1 reference

European Journal of Human Genetics

22 September 2017

published in

1 reference

22 September 2017

volume

10

1 reference

22 September 2017

issue

11

1 reference

22 September 2017

page(s)

694-698

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200867

22 September 2017

exact match

0 references

cites work

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Maternal UPD 20 in a hyperactive child with severe growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Polymorphic SSR (simple-sequence-repeat) markers for chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Methods for studying recombination on chromosomes that undergo nondisjunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

A revisit of trisomy 20 mosaicism in prenatal diagnosis--an overview of 103 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

7 January 2021

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

7 January 2021

Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

7 January 2021

Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

7 January 2021

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200867

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200867

1 reference

Dimensions Publication ID

22 September 2017

1017147407

0 references

1 reference