(Q34160811)

31 July 2017

title

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

1 reference

12q14 microdeletion syndrome

31 July 2017

main subject

1 reference

based on heuristic

inferred from title

microdeletion syndrome

1 reference

Sean Ennis

15

0 references

David R. FitzPatrick

object named as

David R Fitzpatrick

13

0 references

Ann-Charlotte Thuresson

object named as

Ann-Charlotte Thuresson

3

0 references

author name string

Sally Ann Lynch

1

1 reference

31 July 2017

Nicola Foulds

2

1 reference

31 July 2017

Amanda L Collins

4

1 reference

31 July 2017

Göran Annerén

5

1 reference

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Bernt-Oves Hedberg

6

1 reference

31 July 2017

Carol A Delaney

7

1 reference

31 July 2017

James Iremonger

8

1 reference

31 July 2017

Caroline M Murray

9

1 reference

31 July 2017

John A Crolla

10

1 reference

31 July 2017

Colm Costigan

11

1 reference

31 July 2017

Wayne Lam

12

1 reference

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Regina Regan

14

1 reference

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Freddie Sharkey

16

1 reference

31 July 2017

publication date

26 January 2011

1 reference

European Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

19

1 reference

31 July 2017

issue

5

1 reference

31 July 2017

page(s)

534-539

1 reference

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

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

Analyzing real-time PCR data by the comparative C(T) method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083609

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.215

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/10.1038%2FEJHG.2010.215

Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.215

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.215

Multiplex ligation-dependent probe amplification using a completely synthetic probe set

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21267005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.215

1 reference

31 July 2017

1 reference

31 July 2017

1 reference