(Q34044210)

30 July 2017

1 reference

title

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

1 reference

Rubinstein-Taybi syndrome

30 July 2017

0 references

1 reference

van Genderen MM

1

1 reference

30 July 2017

Kinds GF

series ordinal

2

1 reference

30 July 2017

Riemslag FC

series ordinal

3

1 reference

30 July 2017

Hennekam RC

series ordinal

4

1 reference

30 July 2017

language of work or name

English

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publication date

1 October 2000

1 reference

30 July 2017

8

1 reference

British Journal of Ophthalmology

inferred from page(s)

published in

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30 July 2017

84

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30 July 2017

10

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30 July 2017

1177-1184

1 reference

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Monozygotic twins discordant for rubinstein-taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Visual acuity norms in young children

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Metabolic tapetoretinal degenerations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Broad thumbs and broad great toes with facial abnormalities and mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Broad thumbs and toes and mental retardation. Unusual dermatoglyphic observations in two individuals.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

The Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

The Rubeinstein-Taybi Syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

A case of the Rubinstein-Taybi syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein-Taybi syndrome. The first case in an African child and the first case recognized at birth.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

[Rubinstein-Taybi syndrome and corneal lesions. Presentation of a case]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

[Neuroophthalmologic characteristics of the wide "wide thumbs" syndrome of Rubinstein-Taybi. Apropos of an undetected case]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Keratoglobus in the Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Etiology and recurrence risk in Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein-Taybi syndrome: a natural history study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein-Taybi syndrome in The Netherlands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Juvenile glaucoma in the Rubinstein-Taybi syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

2 cases of Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein-Taybi syndrome. Description of 2 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Phenyketonuria associated with Rubinstein-Taybi syndrome, spondylic dysplasia, left vascular shrinking of adrenal gland (author's transl)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

The Rubinstein-Taybi syndrome. Description of a clinical case

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

BROAD THUMBS AND TOES, AND UNUSUAL FACIAL FEATURES; A PROBABLE MENTAL RETARDATION SYNDROME

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Duane retraction syndrome associated with Rubinstein-Taybi syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Check size dependency of the sources of the hemifield-onset evoked potential

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Congenital glaucoma in Rubinstein-Taybi syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Rubinstein Taybi syndrome. Report of two cases (author's transl)

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

Principal components analysis for source localization of VEPs in man.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723270

[Physical malformations and syndrome diseases in congenital glaucoma]

28 October 2018

1 reference

12 December 2020

Rubinstein-Taybi syndrome

1 reference

12 December 2020

The Rubinstein-Taybi syndrome. Clinical and pneumoencephalographic findings

1 reference

12 December 2020

Broad thumbs and great toes syndrome. Rubinstein-Taybi syndrome

1 reference

12 December 2020

Rubinstein-Taybi syndrome (a propos of 4 cases)

1 reference

12 December 2020

[Rubinstein-Taybi syndrome]

1 reference

12 December 2020

Rubinstein Taybi syndrome. Case report

1 reference

12 December 2020

[2 cases of constitutional dwarfism (Rubinstein-Taybi syndrome) with glaucoma]

1 reference

12 December 2020

[On a case of Rubinstein-Taybi syndrome]

1 reference

12 December 2020

Rubinstein—Taybi's syndrome

1 reference

12 December 2020

The Rubinstein-Taybi syndrome. Report of 7 cases

1 reference

12 December 2020

Paroxysmal supraventricular tachycardia in infancy. Report of a case treated with methacholine

1 reference

12 December 2020

[Rubinstein-Taybi syndrome (study of 8 cases)]

1 reference

12 December 2020

[On a case of the Rubinstein and Taybi syndrome]

1 reference

12 December 2020

Rubinstein-Taybi-syndrome of probably monocygotic twins and 3 other children (author's transl)

1 reference

12 December 2020

Syndrome of Rubinstein-Taybi (author's transl)

1 reference

12 December 2020

[Rubinstein-Taybi syndrome. Apropos of 2 new cases]

1 reference

12 December 2020

Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)

1 reference

12 December 2020

Ocular symptoms in Rubinstein-Taybi-Syndrome (author's transl)

1 reference

12 December 2020

The Rubinstein-Taybi syndrome (author's transl)

1 reference

12 December 2020

Delayed visual evoked cortical potentials in retinal disease

1 reference

12 December 2020

[Rubinstein-Taybi syndrome in the light of clinical problems]

1 reference

12 December 2020

[Rubinstein-Taybi syndrome and juvenile glaucoma]

1 reference

12 December 2020

Computed tomography of ocular colobomas

1 reference

12 December 2020

[Rubinstein-Taybi syndrome with multiple keloids]

1 reference

12 December 2020

Bibliography on Rubinstein-Taybi syndrome

1 reference

12 December 2020

Pattern reversal visual evoked potentials in retinitis pigmentosa

1 reference

12 December 2020

Coloboma associated with Rubinstein-Taybi syndrome

1 reference

12 December 2020

Congenital glaucoma associated with Rubinstein-Taybi syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.84.10.1177

1 reference

30 July 2017

1 reference

30 July 2017

1 reference