(Q38492206)

English

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker

scientific article published on August 2001

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scholarly article

1 reference

Europe PubMed Central

3 September 2017

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker (English)

1 reference

Europe PubMed Central

3 September 2017

author name string

Dufke A

1

1 reference

Europe PubMed Central

3 September 2017

Walczak C

2

1 reference

Europe PubMed Central

3 September 2017

Liehr T

3

1 reference

Europe PubMed Central

3 September 2017

Starke H

4

1 reference

Europe PubMed Central

3 September 2017

Trifonov V

5

1 reference

Europe PubMed Central

3 September 2017

Rubtsov N

6

1 reference

Europe PubMed Central

3 September 2017

Schöning M

7

1 reference

Europe PubMed Central

3 September 2017

Enders H

8

1 reference

Europe PubMed Central

3 September 2017

Eggermann T

9

1 reference

Europe PubMed Central

3 September 2017

publication date

1 August 2001

1 reference

Europe PubMed Central

3 September 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

3 September 2017

9

1 reference

Europe PubMed Central

3 September 2017

8

1 reference

Europe PubMed Central

3 September 2017

572-576

1 reference

Europe PubMed Central

3 September 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200673

0 references

Clinical variability of tetrasomy 12p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Centromere DNA dynamics: latent centromeres and neocentromere formation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200673

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200673

1 reference

Europe PubMed Central

3 September 2017

1 reference

Europe PubMed Central

3 September 2017

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