(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