(Q52629874)

4 May 2018

title

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. (English)

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4 May 2018

author name string

Fadel Alyaqoub

1

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4 May 2018

Robert E Pyatt

2

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4 May 2018

Andrea Bailes

3

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4 May 2018

Amanda Brock

4

1 reference

4 May 2018

Carol Deeg

5

1 reference

4 May 2018

Aimee McKinney

6

1 reference

4 May 2018

Caroline Astbury

7

1 reference

4 May 2018

Shalini Reshmi

8

1 reference

4 May 2018

Kate P Shane

9

1 reference

4 May 2018

Devon Lamb Thrush

10

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4 May 2018

Annemarie Sommer

11

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4 May 2018

Julie M Gastier-Foster

12

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4 May 2018

language of work or name

English

0 references

publication date

14 September 2012

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

158A

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4 May 2018

issue

11

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4 May 2018

page(s)

2925-2930

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4 May 2018

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

HMGA2 overexpression in non-small cell lung cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35610

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35610

1 reference

4 May 2018

1 reference

4 May 2018