(Q57557267)

8

object named as

Takao Takahashi

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author name string

Toshiki Takenouchi

1

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Tatsuhiko Yagihashi

2

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Hiroyuki Tsuchiya

3

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Chiharu Torii

4

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Kumiko Hayashi

5

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Rika Kosaki

6

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Kenjiro Kosaki

American Journal of Medical Genetics

9

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language of work or name

English

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publication date

10 August 2012

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number of pages

3

1 reference

based on heuristic

inferred from page(s)

published in

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volume

158A

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issue

10

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page(s)

2621-2623

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cites work

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

TCF4 deletions in Pitt-Hopkins Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Myelin deficient mice: expression of myelin basic protein and generation of mice with varying levels of myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Mosaic microdeletion 18q21 as a cause of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35230