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).

• Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

  PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

  genomic pcr-amplified computational pcr restriction pcr-rflp

• Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

  PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype

  genomic lymphoblastoid i-2 patients pcr quantitative long-range

• Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

  PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups

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  The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1

  family genomic pcr-amplified two-point direct single

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

  PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups

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  All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism

  genomic pcr-amplified ldlr blood long-range cycle diagnostic

• BRCA1 mutations in southern England.

  PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

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  Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

  genomic pcr clinical heteroduplex sequencing pcr

• Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.

  PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups

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  p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)

  bone presentation b-cells direct allele-specific igh

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

  PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

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  A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

  peripheral pcr-amplified patients serum nucleotide restriction serum

• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

  PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

  at-risk eyes blood bbs7 clinical ophthalmologic genetic

• Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.

  PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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  MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.

  frozen muscle extracted pcr-amplified histochemical electron pcr-rflp

• Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

  PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

  genomic pcr proband restriction sscp automated