(Q48678639)

14 February 2018

title

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. (English)

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14 February 2018

author

Hirotomo Saitsu

2

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14 February 2018

Yoshinori Tsurusaki

5

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14 February 2018

author name string

Yukiko Kondo

1

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14 February 2018

Toshinobu Miyamoto

3

1 reference

14 February 2018

Kiyomi Nishiyama

4

1 reference

14 February 2018

Hiroshi Doi

6

1 reference

14 February 2018

Noriko Miyake

7

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14 February 2018

Na-Kyung Ryoo

8

1 reference

14 February 2018

Jeong Hun Kim

9

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14 February 2018

Young Suk Yu

10

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14 February 2018

Naomichi Matsumoto

11

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14 February 2018

publication date

2 February 2012

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14 February 2018

Journal of Human Genetics

published in

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14 February 2018

volume

57

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14 February 2018

issue

3

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14 February 2018

page(s)

197-201

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14 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.4

Characterization of Bcor expression in mouse development

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1 reference

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

21 January 2018

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X-linked cataract and Nance-Horan syndrome are allelic disorders

21 January 2018

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Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.4

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2012.4

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 January 2018

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Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

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 chromosome-inactivation patterns of 1,005 phenotypically unaffected females

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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Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets

21 January 2018

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Structure of a BCOR Corepressor Peptide in Complex with the BCL6 BTB Domain Dimer

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

21 January 2018

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Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

21 January 2018

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

21 January 2018

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.4

inferred from DOI database lookup

7 January 2021

based on heuristic

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.4

inferred from DOI database lookup

7 January 2021

based on heuristic

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%2FJHG.2012.4

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2012.4

1 reference

14 February 2018

1 reference

14 February 2018