(Q51939599)

18 April 2018

title

Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. (English)

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18 April 2018

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A Anil Timur

1

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18 April 2018

Azita Sadgephour

2

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18 April 2018

Michael Graf

3

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18 April 2018

Stuart Schwartz

4

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18 April 2018

Eric D Libby

5

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18 April 2018

David J Driscoll

6

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18 April 2018

Qing Wang

7

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18 April 2018

language of work or name

English

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publication date

1 July 2004

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18 April 2018

published in

Annals of Human Genetics

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18 April 2018

volume

68

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18 April 2018

issue

Pt 4

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18 April 2018

page(s)

353-361

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18 April 2018

Still more complexity in mammalian basement membranes

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Signaling vascular morphogenesis and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00095.X

10.1046/J.1529-8817.2004.00095.X

21 January 2018

Identifiers

DOI

1 reference

18 April 2018

PubMed ID

15225160

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18 April 2018