(Q35219279)

7 August 2017

title

Ring chromosome 17: phenotype variation by deletion size (English)

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7 August 2017

Shashi V

1

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7 August 2017

White JR

2

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7 August 2017

Pettenati MJ

3

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7 August 2017

Root SK

4

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7 August 2017

Bell WL

5

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7 August 2017

publication date

1 October 2003

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7 August 2017

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7 August 2017

volume

64

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7 August 2017

issue

4

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7 August 2017

page(s)

361-365

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Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Miller-Dieker syndrome with ring chromosome 17

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Flecked retina associated with ring 17 chromosome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Identification of a supernumerary marker derived from chromosome 17 using FISH.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Ring chromosome and latent centromeres

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Asymmetry and skin pigmentary anomalies in chromosome mosaicism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

Ring chromosome 11 and café-au-lait spots

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00146.X

1 reference

7 January 2021

10.1034/J.1399-0004.2003.00146.X

Identifiers

DOI

1 reference

7 August 2017

1 reference