(Q34960706)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

12q14 microdeletion syndrome

23 January 2020

main subject

1 reference

based on heuristic

inferred from title

microdeletion syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Alessandra Renieri

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Pia Hermanns

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Maria L Giovannucci-Uzielli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Fiorella Galluzzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Daryl Scott

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Brendan Lee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Sheila Unger

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Bernhard Zabel

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Andrea Superti-Furga

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

publication date

11 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

23 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

1141-1147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

Genome-wide association analysis identifies 20 loci that influence adult height

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

A common variant of HMGA2 is associated with adult and childhood height in the general population

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

Extensive expression studies revealed a complex alternative splicing pattern of the HMGA2 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

In vivo modulation of Hmgic reduces obesity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

The gene for the human architectural transcription factor HMGI-C consists of five exons each coding for a distinct functional element

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986596

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.27

DNA-binding and cleavage studies of macrocyclic copper(II) complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.27

Synaptic PDZ domain-containing proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.27

Sequencing of intron 3 of HMGA2 uncovers the existence of a novel exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.27

HMGA2 is expressed in an allele-specific manner in human lipomas

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19277063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277063%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

PubMed publication ID

19277063

1 reference