(Q55058897)

16 June 2018

title

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (English)

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16 June 2018

Rubinstein-Taybi syndrome

main subject

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Benjamin D Solomon

1

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16 June 2018

Dale L Bodian

2

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16 June 2018

Alina Khromykh

3

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16 June 2018

Gabriela Gomez Mora

4

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16 June 2018

Brendan C Lanpher

5

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16 June 2018

Ramaswamy K Iyer

6

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16 June 2018

Rajiv Baveja

7

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16 June 2018

Joseph G Vockley

8

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16 June 2018

John E Niederhuber

9

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16 June 2018

language of work or name

English

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publication date

25 February 2015

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

167A

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16 June 2018

issue

5

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16 June 2018

page(s)

1111-1116

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16 June 2018

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Next-generation sequencing demands next-generation phenotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

A genome-wide scan for preeclampsia in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Mutations in NOTCH1 cause Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Keloids in Rubinstein-Taybi syndrome: a clinical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36883

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36883

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16 June 2018

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16 June 2018