(Q42590730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

11

1 reference

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29 January 2020

David I. Wilson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Harinder K Gill

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Sian R Parsons

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Cosma Spalluto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Angela F Davies

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Victoria J Knorz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Clare E G Burlinson

6

1 reference

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29 January 2020

Bee Ling Ng

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Nigel P Carter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Caroline Mackie Ogilvie

9

1 reference

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29 January 2020

publication date

27 May 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 January 2020

published in

1 reference

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29 January 2020

volume

17

1 reference

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29 January 2020

issue

11

1 reference

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29 January 2020

page(s)

1423-1431

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.91

29 January 2020

exact match

0 references

cites work

Prox1 maintains muscle structure and growth in the developing heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Ellis-van Creveld syndrome

28 May 2018

1 reference

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The proepicardium delivers hemangioblasts but not lymphangioblasts to the developing heart

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Folding and organization of a contiguous chromosome region according to the gene distribution pattern in primary genomic sequence

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Lymphatic vascular defects promoted by Prox1 haploinsufficiency cause adult-onset obesity

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Highly conserved non-coding sequences are associated with vertebrate development

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Evolution and functional classification of vertebrate gene deserts

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Mulan: multiple-sequence local alignment and visualization for studying function and evolution

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Long-range control of gene expression: emerging mechanisms and disruption in disease

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Detection of large-scale variation in the human genome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

The incidence of congenital heart disease

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Prox1 is differentially localized during lens development

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Prox1 is a marker of ectodermal placodes, endodermal compartments, lymphatic endothelium and lymphangioblasts

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

The genetics of hypoplastic left heart syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Prox1 function is crucial for mouse lens-fibre elongation

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

[Severe left heart developmental disorder and severe fetal arrhythmia in the same family--a coincidental association?]

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Variation in severity of cardiac disease in Holt-Oram syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Chicken homeobox gene Prox 1 related to Drosophila prospero is expressed in the developing lens and retina

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Bivariate chromosome analysis using a commercial flow cytometer

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Inheritance of hypoplastic left heart syndrome (HLHS): Further observations*

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Prox1 expression patterns in the developing and adult murine brain.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Beta cell differentiation during early human pancreas development

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766374

Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: a case series

16 August 2018

1 reference

12 December 2020

Rubinstein-Taybi syndrome and hypoplastic left heart

1 reference

12 December 2020

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

1 reference

12 December 2020

Hypoplastic-left-heart syndrome in siblings

1 reference

12 December 2020

Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome

1 reference

12 December 2020

Ultrastructural and histological studies on closure of the mouse ductus arteriosus

1 reference

12 December 2020

Prox 1, a prospero-related homeobox gene expressed during mouse development

1 reference

12 December 2020

Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus

1 reference

12 December 2020

Isolated hypoplastic left heart syndrome in three siblings

1 reference

12 December 2020

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

12 December 2020

Prox1 function is required for the development of the murine lymphatic system

1 reference

12 December 2020

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

1 reference

12 December 2020

Hypoplastic left heart syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19471316%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

19471316

1 reference