(Q57557278)

8

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author name string

Jun Tohyama

1

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Toshiyuki Yamamoto

2

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Kana Hosoki

3

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Noriyuki Akasaka

5

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Tsukasa Ohashi

6

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Yu Kobayashi

American Journal of Medical Genetics

7

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language of work or name

English

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publication date

9 September 2011

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published in

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volume

155

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issue

10

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page(s)

2584-2588

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cites work

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

A new paradigm for West syndrome based on molecular and cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Small supernumerary marker chromosomes (sSMC) in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

The MECP2 duplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

Maternal uniparental disomy for chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34224