(Q34514940)

2 August 2017

title

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy (English)

1 reference

Erratum: Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

2 August 2017

1 reference

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/EJHG.2011.73

Elizabeth Ellins

8

0 references

Julian Halcox

Julian Halcox

14

0 references

Ian D. Pavord

Ian Pavord

10

0 references

David M Hunt

David M Hunt

12

0 references

Pamela Jane Thompson

3

Pamela J Thompson

1 reference

2 August 2017

11

Nigel Klein

1 reference

2 August 2017

4

Michel Michaelides

1 reference

2 August 2017

Francesca I Arrigoni

1

1 reference

2 August 2017

Mar Matarin

2

1 reference

2 August 2017

Michelle E McClements

5

1 reference

2 August 2017

Elizabeth Redmond

6

1 reference

2 August 2017

Lindsey Clarke

7

1 reference

2 August 2017

Saifullah Mohamed

9

1 reference

2 August 2017

Anthony T Moore

13

1 reference

2 August 2017

Sanjay M Sisodiya

15

1 reference

2 August 2017

publication date

22 September 2010

1 reference

European Journal of Human Genetics

2 August 2017

published in

1 reference

2 August 2017

volume

19

1 reference

2 August 2017

issue

2

1 reference

2 August 2017

page(s)

131-137

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.147

2 August 2017

exact match

0 references

cites work

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Cell-derived microparticles: a new challenge in neuroscience

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

CD133 as a marker for cancer stem cells: progresses and concerns

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Circulating endothelial cells, microparticles and progenitors: key players towards the definition of vascular competence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Endothelial dysfunction in lacunar stroke: a systematic review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Prominin 1 marks intestinal stem cells that are susceptible to neoplastic transformation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Endothelial microparticles in diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Vasculogenesis and angiogenesis in the early human placenta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Procoagulant microparticles: disrupting the vascular homeostasis equation?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Adult stem cells in the repair of the injured renal tubule

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Endothelial progenitor cells in chronic renal insufficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Natural variation and genetic covariance in adult hippocampal neurogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Influence of cardiovascular risk factors on endothelial progenitor cells: limitations for therapy?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Endothelial progenitor cells functional characterization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Identification of human brain tumour initiating cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Endothelial progenitor cells: characterization and role in vascular biology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Smell testing: an additional tool for identification of adult Refsum's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

Bone marrow origin of endothelial progenitor cells responsible for postnatal vasculogenesis in physiological and pathological neovascularization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

AC133, a novel marker for human hematopoietic stem and progenitor cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025782

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Role of SOX2 mutations in human hippocampal malformations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Changes in circulating human endothelial progenitor cells after brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Expression of distinct splice variants of the stem cell marker prominin-1 (CD133) in glial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

The use of a color coded probability scale to interpret smell tests in suspected parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Stem cell marker CD133 affects clinical outcome in glioma patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Elevated plasma endothelial microparticles in multiple sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Microvascular changes in the white mater in dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Nomenclature of prominin-1 (CD133) splice variants - an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Mesodermal cell types induce neurogenesis from adult human hippocampal progenitor cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.147

Methylation of the prominin 1 TATA-less main promoters and tissue specificity of their transcript content

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20859302

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

End-stage renal disease causes an imbalance between endothelial and smooth muscle progenitor cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20859302

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.147

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference