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).

• Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

  PMID 19099557 · PMC2630295 · Cardiovascular ultrasound · 2008 · 8 claims · 4 setups

  Full-text index only

  HCM and about 50% of idiopathic DCM are familial diseases with an autosomal dominant pattern of inheritance

  patients families genetic 2-dimensional cardiac

• Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.

  PMID 11250722 · PMC138789 · Breast cancer research : BCR · 2000 · 8 claims · 8 setups

  Full-text index only

  BRCA1 and BRCA2 mutations confer an 80-85% lifetime risk (by age 80) of female breast cancer

  normal affected women brca1 clonogenic germline mammographic

• Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

  PMID 17728513 · PMC2693823 · Journal of Korean medical science · 2007 · 7 claims · 6 setups

  Full-text index only

  EDS type IV is genetically heterogeneous; not all clinically/biochemically diagnosed patients carry COL3A1 mutations

  genomic peripheral abdominal cerebral direct genomic angiography

• 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

  Full-text index only

  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

• Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.

  PMID 17712160 · PMC10846119 · American journal of Alzheimer's disease and other dementias · 2007 · 7 claims · 5 setups

  Full-text index only

  A novel heterozygous MAPT mutation (2274 G→A, exon 12, causing V363I) was identified in the proband, 2 of 3 tested children, and 1 sibling, but not in 194 healthy control individuals from the same population.

  genomic proband proband's pcr tau neuropsychological

• Introduction: the challenge of incidental findings.

  PMID 18547190 · PMC2587006 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

  Full-text index only

  No consensus exists on how to handle incidental findings in human subjects research

  publicly healthy asymptomatic families empirical functional colonography

• New genes, new dilemmas: FTLD genetics and its implications for families.

  PMID 18166610 · PMC10846215 · American journal of Alzheimer's disease and other dementias · 2007 · 8 claims · 8 setups

  Full-text index only

  MAPT and PGRN mutations account for the largest number of familial FTLD cases and differ fundamentally in disease mechanism

  familial ftld postmortem ftld-u genetic mutation neuropathological

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

  Full-text index only

  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• 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

  Full-text index only

  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