Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene (Q37623454)

21 August 2017

Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene (English)

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persistent fetal vasculature

21 August 2017

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author name string

Michelle N Mary-Sinclair

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21 August 2017

Xiaofei Wang

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21 August 2017

Douglas J Swanson

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21 August 2017

Caroline Y Sung

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21 August 2017

Eneida A Mendonca

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21 August 2017

Kristen Wroblewski

1 reference

21 August 2017

Shannon H Baumer

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21 August 2017

Dan Goldowitz

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21 August 2017

Monica M Jablonski

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21 August 2017

Stephen X Skapek

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21 August 2017

3 March 2014

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21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

215-230

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Somatic mutation, genomic variation, and neurological disease

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Detectable clonal mosaicism from birth to old age and its relationship to cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Tgfbeta signaling directly induces Arf promoter remodeling by a mechanism involving Smads 2/3 and p38 MAPK.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

An essential role for frizzled 5 in mammalian ocular development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Regulation of the INK4b-ARF-INK4a tumour suppressor locus: all for one or one for all.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Arf-dependent regulation of Pdgf signaling in perivascular cells in the developing mouse eye.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Outcomes in persistent hyperplastic primary vitreous

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Analysis of mouse eye development with chimeras and mosaics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Arf tumor suppressor promoter monitors latent oncogenic signals in vivo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

The Arf tumor suppressor gene promotes hyaloid vascular regression during mouse eye development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

TGFbeta2 in corneal morphogenesis during mouse embryonic development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

The INK4a/ARF network in tumour suppression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Disruption of the ARF-Mdm2-p53 tumor suppressor pathway in Myc-induced lymphomagenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous: diagnosis, treatment and results

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Tumor suppression at the mouse INK4a locus mediated by the alternative reading frame product p19ARF

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous in male twins.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Genomic alterations of the p19ARF encoding exons in T-cell acute lymphoblastic leukemia.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent Fetal Vasculature (PFV): An Integrated Interpretation of Signs and Symptoms Associated With Persistent Hyperplastic Primary Vitreous (PHPV) LIV Edward Jackson Memorial Lecture

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous in non-identical twins

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous with vertical transmission

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Expression of the Arf tumor suppressor gene is controlled by Tgfbeta2 during development

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Angiopoietin-2 is required for postnatal angiogenesis and lymphatic patterning, and only the latter role is rescued by Angiopoietin-1.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Angiopoietin-2 plays an important role in retinal angiogenesis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Tumor spectrum in ARF-deficient mice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3945809

Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous

1 September 2018

1 reference

12 December 2020

Germline mutation of ARF in a melanoma kindred

1 reference

12 December 2020

A Wilcoxon-type test for trend

1 reference

12 December 2020

The weaver granuloprival phenotype is due to intrinsic action of the mutant locus in granule cells: Evidence from homozygous weaver chimeras

1 reference

12 December 2020

High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice

1 reference

12 December 2020

DNA studies underestimate the major role of CDKN2A inactivation in oral and oropharyngeal squamous cell carcinomas

1 reference

12 December 2020

Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome

1 reference

12 December 2020

Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

1 reference

12 December 2020

Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment

1 reference

12 December 2020

Exploring the variation within

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12 December 2020

Regression of the hyaloid vessels and pupillary membrane of the mouse

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12 December 2020

Identifiers

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21 August 2017

PubMed publication ID

24623965

1 reference