(Q55057647)

16 June 2018

title

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. (English)

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16 June 2018

Rubinstein-Taybi syndrome

main subject

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9

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Cristina Gervasini

15

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16 June 2018

Donatella Milani

object named as

D Milani

2

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author name string

G Negri

1

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P Colapietro

3

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F Forzano

4

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M Della Monica

5

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D Rusconi

6

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L Consonni

7

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L G Caffi

8

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G Scarano

10

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C Magnani

11

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A Selicorni

12

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S Spena

13

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L Larizza

14

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publication date

17 February 2014

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16 June 2018

published in

Clinical Genetics

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volume

87

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issue

2

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16 June 2018

page(s)

148-154

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16 June 2018

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

cites work

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Rubinstein-Taybi syndrome.

21 January 2018

1 reference

Tumors in Rubinstein-Taybi syndrome

21 January 2018

1 reference

Rubinstein-Taybi syndrome: clinical and molecular overview

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

21 January 2018

1 reference

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

21 January 2018

1 reference

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

21 January 2018

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

21 January 2018

1 reference

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

21 January 2018

1 reference

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

21 January 2018

1 reference

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12348

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16 June 2018

PubMed ID

24476420

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16 June 2018