Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome (Q28256091)

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object named as

Christine Verellen-Dumoulin

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author name string

Damien Lederer

1

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Bernard Grisart

2

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Maria Cristina Digilio

3

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Valérie Benoit

4

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Marianne Crespin

5

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Sophie Claire Ghariani

6

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Isabelle Maystadt

American Journal of Human Genetics

7

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language of work or name

English

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publication date

13 January 2012

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published in

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volume

90

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issue

1

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page(s)

119-24

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cites work

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

1 reference

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20 March 2017

1 reference

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The histone demethylase UTX enables RB-dependent cell fate control

20 March 2017

1 reference

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Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

20 March 2017

1 reference

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Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases

20 March 2017

1 reference

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A histone H3 lysine 27 demethylase regulates animal posterior development

20 March 2017

1 reference

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome

20 March 2017

1 reference

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Coarctation of the aorta in Kabuki syndrome

20 March 2017

1 reference

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

20 March 2017

1 reference

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

20 March 2017

1 reference

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A mutation screen in patients with Kabuki syndrome

29 September 2017

1 reference

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome

29 September 2017

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DIA1R is an X-linked gene related to Deleted In Autism-1.

29 September 2017

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Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression

29 September 2017

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

29 September 2017

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

29 September 2017

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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

29 September 2017

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Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons

29 September 2017

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

29 September 2017

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Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

29 September 2017

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Congenital heart defects in Kabuki syndrome.

29 September 2017

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The UTX gene escapes X inactivation in mice and humans

29 September 2017

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Three patients with ring (X) chromosomes and a severe phenotype

29 September 2017

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

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257878

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257878

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

29 September 2017

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Ring chromosome X in a child with manifestations of Kabuki syndrome

29 September 2017

1 reference

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

2 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257878

Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression.

27 November 2018

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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257878

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257878

Agenesis of the corpus callosum in Turner syndrome with ring X.

27 November 2018

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No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

27 November 2018

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12 December 2020

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

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12 December 2020

Kabuki syndrome and cancer in two patients

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12 December 2020

Cancer predisposition in children with Kabuki syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2011.11.021

Identifiers

DOI

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3253174

3253174

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