MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. (Q50237955)

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22 February 2020

title

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study (English)

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Periklis Makrythanasis

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Peer Arts

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C Gilissen

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H G Brunner

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B W van Bon

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B M Anderlid

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H G Yntema

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publication date

26 April 2013

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volume

84

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issue

6

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page(s)

539-545

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

22 February 2020

cites work

1 reference

Kabuki make-up syndrome: a review

21 January 2018

1 reference

Kabuki syndrome: a review

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

21 January 2018

1 reference

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

21 January 2018

1 reference

A mutation screen in patients with Kabuki syndrome

21 January 2018

1 reference

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

21 January 2018

1 reference

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

21 January 2018

1 reference

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

1 reference

Four enzymes cooperate to displace histone H1 during the first minute of hormonal gene activation

21 January 2018

1 reference

Identification of the MLL2 complex as a coactivator for estrogen receptor alpha

21 January 2018

1 reference

Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.

21 January 2018

1 reference

ASCOM controls farnesoid X receptor transactivation through its associated histone H3 lysine 4 methyltransferase activity

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

Prediction of primate splice site using inhomogeneous Markov chain and neural network.

21 January 2018

1 reference

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

1 reference

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12081

1 reference

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22 February 2020

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