(Q50237955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23320472%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23320472%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

5

1 reference

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22 February 2020

Ivon Cuscó

16

1 reference

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22 February 2020

Ann Nordgren

34

1 reference

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22 February 2020

Richard C Trembath

50

1 reference

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22 February 2020

Stilianos Antonarakis

57

1 reference

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22 February 2020

Periklis Makrythanasis

1

1 reference

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Benjamín Rodríguez-Santiago

22 February 2020

4

1 reference

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22 February 2020

Peer Arts

8

1 reference

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22 February 2020

Lucia Micale

31

1 reference

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22 February 2020

Christiane Zweier

48

1 reference

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22 February 2020

Joris A Veltman

55

1 reference

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22 February 2020

23

C Gilissen

1 reference

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22 February 2020

54

H G Brunner

1 reference

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22 February 2020

author name string

B W van Bon

2

1 reference

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22 February 2020

M Steehouwer

3

1 reference

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22 February 2020

P Dias

6

1 reference

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22 February 2020

B M Anderlid

7

1 reference

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22 February 2020

M Bhat

9

1 reference

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22 February 2020

B Augello

10

1 reference

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22 February 2020

E Biamino

11

1 reference

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22 February 2020

E M H F Bongers

12

1 reference

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22 February 2020

M Del Campo

13

1 reference

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22 February 2020

I Cordeiro

14

1 reference

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22 February 2020

A M Cueto-González

15

1 reference

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22 February 2020

C Deshpande

17

1 reference

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22 February 2020

E Frysira

18

1 reference

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22 February 2020

L Izatt

19

1 reference

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22 February 2020

R Flores

20

1 reference

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22 February 2020

E Galán

21

1 reference

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22 February 2020

B Gener

22

1 reference

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22 February 2020

S M Granneman

24

1 reference

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22 February 2020

J Hoyer

25

1 reference

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22 February 2020

H G Yntema

26

1 reference

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22 February 2020

C M Kets

27

1 reference

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22 February 2020

D A Koolen

28

1 reference

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22 February 2020

C l Marcelis

29

1 reference

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22 February 2020

A Medeira

30

1 reference

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22 February 2020

S Mohammed

32

1 reference

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22 February 2020

S A de Munnik

33

1 reference

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22 February 2020

S Psoni

35

1 reference

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22 February 2020

W Reardon

36

1 reference

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22 February 2020

N Revencu

37

1 reference

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22 February 2020

T Roscioli

38

1 reference

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22 February 2020

M Ruiterkamp-Versteeg

39

1 reference

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22 February 2020

H G Santos

40

1 reference

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22 February 2020

J Schoumans

41

1 reference

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22 February 2020

J H M Schuurs-Hoeijmakers

42

1 reference

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22 February 2020

M C Silengo

43

1 reference

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22 February 2020

L Toledo

44

1 reference

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22 February 2020

T Vendrell

45

1 reference

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22 February 2020

I van der Burgt

46

1 reference

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22 February 2020

B van Lier

47

1 reference

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22 February 2020

L Perez-Jurado

51

1 reference

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22 February 2020

J Dupont

52

1 reference

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22 February 2020

B B A de Vries

53

1 reference

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22 February 2020

G Merla

56

1 reference

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22 February 2020

A Hoischen

58

1 reference

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22 February 2020

A Reymond

49

1 reference

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22 February 2020

publication date

26 April 2013

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22 February 2020

1 reference

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22 February 2020

volume

84

1 reference

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22 February 2020

issue

6

1 reference

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22 February 2020

page(s)

539-545

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23320472%20AND%20SRC:MED&resulttype=core&format=json

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

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23320472%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

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