(Q36078059)

12 August 2017

title

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort (English)

1 reference

12 August 2017

1 reference

Claire Turner

1

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12 August 2017

Katherine Lachlan

2

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12 August 2017

Nishani Amerasinghe

3

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12 August 2017

Peter Hodgkins

4

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12 August 2017

Viv Maloney

5

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12 August 2017

John Barber

6

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12 August 2017

I Karen Temple

7

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12 August 2017

publication date

1 June 2005

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European Journal of Human Genetics

12 August 2017

published in

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12 August 2017

volume

13

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12 August 2017

issue

6

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12 August 2017

page(s)

716-720

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Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

12 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Phenotype and X inactivation in 45,X/46,X,r(X) cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Congenital heart defects in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

inferred from DOI database lookup

7 January 2021

based on heuristic

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

inferred from DOI database lookup

7 January 2021

based on heuristic

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201377

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201377

1 reference

Dimensions Publication ID

12 August 2017

1048622378

0 references

1 reference