Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

  PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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  A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

  patients genomic slit pcr

• Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

  PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

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  OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

  xlrs genomic optical full-field multifocal

• A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

  PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

  genomic cornea corneas blood direct pcr laser

• A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

  PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups

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  PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.

  genomic healthy peripheral affected pcr genomic full

• An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

  PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups

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  A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.

  genomic family pcr clinical