(Q37995857)

26 August 2017

title

Kabuki syndrome revisited (English)

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26 August 2017

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Yemisi Bokinni

1

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26 August 2017

publication date

22 March 2012

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Journal of Human Genetics

26 August 2017

published in

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26 August 2017

volume

57

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26 August 2017

issue

4

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26 August 2017

page(s)

223-227

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

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Kabuki syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Congenital heart defects in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Kabuki syndrome: a review study of three hundred patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

MLL2: A new mammalian member of the trx/MLL family of genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Kabuki make-up syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Pregnancy after laser-assisted selection of viable spermatozoa before intracytoplasmatic sperm injection in a couple with male primary cilia dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Xist and the order of silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

A mutation screen in patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

The UTX gene escapes X inactivation in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

A histone H3 lysine 27 demethylase regulates animal posterior development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

Regulating a master regulator: establishing tissue-specific gene expression in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

The H3K27me3 demethylase dUTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

7 January 2021

Further evidence of dominant inheritance of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

7 January 2021

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

7 January 2021

Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

7 January 2021

A small and active ring X chromosome in a female with features of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.28

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.28

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26 August 2017

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