The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy (Q42265747)

19 October 2017

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy (English)

1 reference

19 October 2017

1 reference

19 October 2017

Ivan Conte

0 references

Francesco Testa

0 references

Sandro Banfi

0 references

Ivana Peluso

1 reference

19 October 2017

Gopuraja Dharmalingam

1 reference

19 October 2017

Mariateresa Pizzo

1 reference

19 October 2017

Rob W J Collin

1 reference

19 October 2017

Nicola Meola

1 reference

19 October 2017

Sara Barbato

1 reference

19 October 2017

Margherita Mutarelli

1 reference

19 October 2017

Carmela Ziviello

1 reference

19 October 2017

Anna Maria Barbarulo

1 reference

19 October 2017

Mariarosa A B Melone

1 reference

19 October 2017

European Retinal Disease Consortium

1 reference

19 October 2017

Francesca Simonelli

1 reference

19 October 2017

28 January 2013

1 reference

Orphanet Journal of Rare Diseases

19 October 2017

1 reference

19 October 2017

1 reference

19 October 2017

1 reference

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Next-generation genetic testing for retinitis pigmentosa

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

miR-204 is required for lens and retinal development via Meis2 targeting

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

A review of the ADAMTS family, pharmaceutical targets of the future

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

PLINK: a tool set for whole-genome association and population-based linkage analyses

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Glycosaminoglycan-binding properties and aggrecanase activities of truncated ADAMTSs: comparative analyses with ADAMTS-5, -9, -16 and -18

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Molecular genetics of Leber congenital amaurosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

The complexities of ocular genetics

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Retinitis pigmentosa. The Friedenwald Lecture

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

The distinct ophthalmic phenotype of Knobloch syndrome in children

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Comprehensive characterization of the cis-regulatory code responsible for the spatio-temporal expression of olSix3.2 in the developing medaka forebrain.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Light-induced rod and cone cell death and regeneration in the adult albino zebrafish (Danio rerio) retina

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568033

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23356391

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular genetics of retinitis pigmentosa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23356391

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Light-induced photoreceptor degeneration in the retina of the zebrafish

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23356391

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-16

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference

19 October 2017

PubMed publication ID

23356391

1 reference