(Q38256639)

1 September 2017

1 reference

title

Kabuki syndrome: clinical and molecular diagnosis in the first year of life (English)

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1 September 2017

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3

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1 September 2017

15

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1 September 2017

Cinzia Auriti

6

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author name string

Maria Lisa Dentici

1

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1 September 2017

Alessandra Di Pede

2

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1 September 2017

Maria Gnazzo

4

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1 September 2017

Mary Haywood Lombardi

5

1 reference

1 September 2017

Stefano Petrocchi

7

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1 September 2017

Elisa Pisaneschi

8

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1 September 2017

Emanuele Bellacchio

9

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1 September 2017

Rossella Capolino

10

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1 September 2017

Annabella Braguglia

11

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1 September 2017

Adriano Angioni

12

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1 September 2017

Andrea Dotta

13

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1 September 2017

Maria Cristina Digilio

14

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1 September 2017

language of work or name

English

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publication date

3 October 2014

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Archives of Disease in Childhood

1 September 2017

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1 September 2017

100

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1 September 2017

2

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1 September 2017

158-164

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

1 September 2017

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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/10.1136%2FARCHDISCHILD-2013-305858

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Phenotypic spectrum and management issues in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Kabuki syndrome: a review study of three hundred patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Kabuki syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

A mutation screen in patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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/10.1136%2FARCHDISCHILD-2013-305858

KDM6A point mutations cause Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Neonatal phenotype in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

ACMG clinical laboratory standards for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

SIFT web server: predicting effects of amino acid substitutions on proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Seizures and EEG pattern in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

Congenital heart defects in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2013-305858

10.1136/ARCHDISCHILD-2013-305858

21 January 2018

Identifiers

DOI

1 reference

1 September 2017

1 reference