scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1041035641 |
P356 | DOI | 10.1186/1750-1172-8-16 |
P932 | PMC publication ID | 3568033 |
P698 | PubMed publication ID | 23356391 |
P5875 | ResearchGate publication ID | 235377899 |
P50 | author | Francesco Testa | Q47504178 |
Sandro Banfi | Q56581073 | ||
Vincenzo Nigro | Q37379237 | ||
Ivan Conte | Q47110956 | ||
P2093 | author name string | Gopuraja Dharmalingam | |
Francesca Simonelli | |||
Margherita Mutarelli | |||
Rob W J Collin | |||
Ivana Peluso | |||
Sara Barbato | |||
Mariarosa A B Melone | |||
Mariateresa Pizzo | |||
Anna Maria Barbarulo | |||
European Retinal Disease Consortium | |||
Carmela Ziviello | |||
Nicola Meola | |||
P2860 | cites work | Light-induced rod and cone cell death and regeneration in the adult albino zebrafish (Danio rerio) retina | Q50510016 |
The distinct ophthalmic phenotype of Knobloch syndrome in children. | Q51806412 | ||
Molecular genetics of retinitis pigmentosa | Q70838272 | ||
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations | Q74150962 | ||
Light-induced photoreceptor degeneration in the retina of the zebrafish | Q84356416 | ||
A high-resolution anatomical atlas of the transcriptome in the mouse embryo | Q21145782 | ||
BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources | Q21183895 | ||
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease | Q24302215 | ||
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa | Q24310215 | ||
Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene | Q24312758 | ||
PLINK: a tool set for whole-genome association and population-based linkage analyses | Q24677407 | ||
Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro | Q28260895 | ||
Glycosaminoglycan-binding properties and aggrecanase activities of truncated ADAMTSs: comparative analyses with ADAMTS-5, -9, -16 and -18 | Q28299597 | ||
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement | Q29147474 | ||
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. | Q30165144 | ||
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. | Q33870288 | ||
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy | Q33948894 | ||
miR-204 is required for lens and retinal development via Meis2 targeting | Q34100520 | ||
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. | Q34128761 | ||
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome | Q34210232 | ||
The complexities of ocular genetics | Q34592303 | ||
Molecular genetics of Leber congenital amaurosis | Q34641603 | ||
Next-generation genetic testing for retinitis pigmentosa | Q36375321 | ||
A review of the ADAMTS family, pharmaceutical targets of the future | Q37550866 | ||
The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy | Q37969960 | ||
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients | Q40179772 | ||
Retinitis pigmentosa. The Friedenwald Lecture | Q40896642 | ||
Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6. | Q43037278 | ||
Comprehensive characterization of the cis-regulatory code responsible for the spatio-temporal expression of olSix3.2 in the developing medaka forebrain. | Q43151621 | ||
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye. | Q43538537 | ||
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy | Q45869158 | ||
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles | Q46670192 | ||
P304 | page(s) | 16 | |
P577 | publication date | 2013-01-28 | |
P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
P1476 | title | The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy | |
P478 | volume | 8 |
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Q37745901 | Adamts18 deficiency promotes colon carcinogenesis by enhancing β-catenin and p38MAPK/ERK1/2 signaling in the mouse model of AOM/DSS-induced colitis-associated colorectal cancer |
Q37502202 | Adamts18 deletion results in distinct developmental defects and provides a model for congenital disorders of lens, lung, and female reproductive tract development. |
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Q37595086 | Molecular pathogenesis and management strategies of ectopia lentis |
Q93047706 | Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease |
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