Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (Q34303639)

1 August 2017

title

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (English)

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Lenz microphthalmia syndrome

1 August 2017

main subject

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Andrew Oliver Mungo Wilkie

inferred from title

author

10

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1 August 2017

15

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1 August 2017

Nalin Thakker

2

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Shawn M. Burgess

object named as

Shawn M Burgess

13

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Leslie G Biesecker

16

object named as

Leslie G Biesecker

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1 August 2017

14

Vivian J Bardwell

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1 August 2017

3

Connie M Corcoran

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1 August 2017

6

Adele Schneider

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1 August 2017

David Ng

1

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1 August 2017

Dian Donnai

4

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1 August 2017

Rahat Perveen

5

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1 August 2017

Donald W Hadley

7

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1 August 2017

Cynthia Tifft

8

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1 August 2017

Liqun Zhang

9

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1 August 2017

Jasper J van der Smagt

11

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1 August 2017

Robert J Gorlin

12

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1 August 2017

language of work or name

English

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publication date

7 March 2004

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1 August 2017

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1 August 2017

volume

36

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1 August 2017

issue

4

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1 August 2017

page(s)

411-416

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Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

1 August 2017

cites work

1 reference

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Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

21 January 2018

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Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.

21 January 2018

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Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

21 January 2018

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Oculo-facio-cardio-dental (OFCD) syndrome

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Effective targeted gene 'knockdown' in zebrafish

21 January 2018

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Identification of the gene associated with the recurring chromosomal translocations t(3;14)(q27;q32) and t(3;22)(q27;q11) in B-cell lymphomas

21 January 2018

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LAZ3, a novel zinc-finger encoding gene, is disrupted by recurring chromosome 3q27 translocations in human lymphomas

21 January 2018

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Control of inflammation, cytokine expression, and germinal center formation by BCL-6

21 January 2018

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The BCL-6 proto-oncogene controls germinal-centre formation and Th2-type inflammation

21 January 2018

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Disruption of the Bcl6 Gene Results in an Impaired Germinal Center Formation

21 January 2018

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The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor

21 January 2018

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Signal transduction: an eye on organ development.

21 January 2018

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The genetic and molecular basis of congenital eye defects

21 January 2018

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

21 January 2018

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CREB-binding protein/p300 co-activation of crystallin gene expression

21 January 2018

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Acetylation inactivates the transcriptional repressor BCL6.

21 January 2018

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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

21 January 2018

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X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

21 January 2018

1 reference

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7 January 2021

inferred from DOI database lookup

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FNG1321

7 January 2021

inferred from DOI database lookup

Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance

1 reference

https://api.crossref.org/works/10.1038%2FNG1321

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG1321

1 reference

1 August 2017

1 reference