(Q38119849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

0 references

1 reference

1

1 reference

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4 March 2020

Helen M. Stuart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Neil A Roberts

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Emma N. Hilton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

William G. Newman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Edward A McKenzie

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

1 reference

9 July 2013

1 reference

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4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

29

1 reference

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4 March 2020

issue

4

1 reference

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4 March 2020

page(s)

513-518

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23832138%20AND%20SRC:MED&resulttype=core&format=json

Systematic review of the effectiveness of antenatal intervention for the treatment of congenital lower urinary tract obstruction

4 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2552-2

Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

21 January 2018

1 reference

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Mutations in HPSE2 cause urofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2552-2

LRIG2 mutations cause urofacial syndrome

21 January 2018

1 reference

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Neural control of the bladder: recent advances and neurologic implications

21 January 2018

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Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

21 January 2018

1 reference

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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2552-2

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2552-2

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

21 January 2018

1 reference

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Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member

21 January 2018

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Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity

21 January 2018

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The heparanase system and tumor metastasis: is heparanase the seed and soil?

21 January 2018

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Tumorigenic and adhesive properties of heparanase

21 January 2018

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Heparanase isoform expression and extracellular matrix remodeling in intervertebral disc degenerative disease.

21 January 2018

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Heparanase-2, syndecan-1, and extracellular matrix remodeling in colorectal carcinoma.

21 January 2018

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A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract

21 January 2018

1 reference

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Characterization and tissue-specific expression of human LRIG2.

21 January 2018

1 reference

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The LRIG gene family has three vertebrate paralogs widely expressed in human and mouse tissues and a homolog in Ascidiacea

21 January 2018

1 reference

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Expression pattern of LRR and Ig domain-containing protein (LRRIG protein) in the early mouse embryo

21 January 2018

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LRIG1 restricts growth factor signaling by enhancing receptor ubiquitylation and degradation

21 January 2018

1 reference

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The leucine-rich repeat protein LRIG1 is a negative regulator of ErbB family receptor tyrosine kinases

21 January 2018

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LRIG1 is a triple threat: ERBB negative regulator, intestinal stem cell marker and tumour suppressor

21 January 2018

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Brain heparanase expression is up-regulated during postnatal development and hypoxia-induced neovascularization in adult rats

21 January 2018

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Heparanase enhances nerve-growth-factor-induced PC12 cell neuritogenesis via the p38 MAPK pathway.

21 January 2018

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Cytoplasmic LRIG2 expression is associated with poor oligodendroglioma patient survival

21 January 2018

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Downregulation of LRIG2 expression by RNA interference inhibits glioblastoma cell (GL15) growth, causes cell cycle redistribution, increases cell apoptosis and enhances cell adhesion and invasion in vitro

21 January 2018

1 reference

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Severe bladder dysfunction revealed prenatally or during infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2552-2

Twelve-year experience with Hinman-Allen syndrome at a single center

21 January 2018

1 reference

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Genomic analysis of Xenopus organizer function

21 January 2018

1 reference

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Heparanase: a target for drug discovery in cancer and inflammation

21 January 2018

1 reference

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Furanyl-1,3-thiazol-2-yl and benzoxazol-5-yl acetic acid derivatives: novel classes of heparanase inhibitor

21 January 2018

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Generation of induced pluripotent stem cells from human terminally differentiated circulating T cells.

21 January 2018

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More than meets the smile: facial muscle expression in children with Ochoa syndrome

21 January 2018

1 reference

12 December 2020

Genetics of human congenital urinary bladder disease

1 reference

12 December 2020

Ochoa syndrome: a spectrum of urofacial syndrome

1 reference

12 December 2020

Urodynamic patterns in infants with normal lower urinary tracts or primary vesico-ureteric reflux.

1 reference

12 December 2020

First HPSE2 missense mutation in urofacial syndrome

1 reference

12 December 2020

Identification of nonneurogenic neurogenic bladder in infants

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12 December 2020

Mapping heparanase expression in the spinal cord of adult rats

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12 December 2020

Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries

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12 December 2020

Is there any role for urodynamic study in children with high-grade vesicoureteral reflux?

1 reference

12 December 2020

Smooth muscle in the wall of the developing human urinary bladder and urethra

1 reference

12 December 2020