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).

• BRCA1 and BRCA2 mutations in central and southern Italian patients.

  PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

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  Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

  genomic peripheral truncation single-strand direct

• Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

  PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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  Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

  genomic pcr-amplified pcr truncation single-strand heteroduplex

• Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

  PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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  A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

  peripheral genomic cdna truncation sscp d-hplc

• Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

  PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups

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  Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation

  genomic truncation single-strand direct

• Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

  PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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  BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

  genomic clinical pcr-sscp restriction kaplan-meier

• Analysis of the TGF beta functional pathway in epithelial ovarian carcinoma.

  PMID 11531253 · PMC2364123 · British journal of cancer · 2001 · 6 claims · 6 setups

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  IGFIIR, TGFβ1 and TGFβRII are proposed to function as a unit in the TGFβ growth inhibitory pathway

  epithelial tumor genomic ovarian sscp sequencing pcr

• Endemic Venezuelan equine encephalitis in northern Peru.

  PMID 15200823 · PMC3323213 · Emerging infectious diseases · 2004 · 8 claims · 8 setups

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  Four VEE complex lineages cocirculate in the Peruvian Amazon region: subtype ID (Panama genotype and Colombia/Venezuela genotype), subtype IIIC, and a newly proposed subtype IIID

  veev pe2 subtype cotton sscp pcr phylogenetic

• Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

  PMID 15082894 · PMC2822302 · Journal of Korean medical science · 2004 · 8 claims · 4 setups

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  Five unrelated Korean X-linked CGD patients each carry a distinct CYBB gene mutation: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC, and c.434T>C

  neutrophils genomic splice-site activated pcr-single sequencing

• B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.

  PMID 17311103 · PMC1794595 · PloS one · 2007 · 5 claims · 4 setups

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  B-RAF and N-RAS mutation status is well preserved (strongly concordant) between tumor tissue biopsies and corresponding short-term in vitro propagated cell lines.

  tumor biopsy-derived metastatic pcr direct survival

• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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  The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

  genomic pcr-amplified case-control pon1 single-strand direct genetic

• The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

  PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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  No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

  genomic pcr genotype pcr-based direct pcr

• Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma.

  PMID 11953860 · PMC2364167 · British journal of cancer · 2002 · 7 claims · 5 setups

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  Nuclear β-catenin expression is significantly associated with ulcerative growth of colorectal cancer

  sporadic same genomic immunohistochemistry truncation single-strand

• 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

• Genetic and epigenetic changes in primary metastatic and nonmetastatic colorectal cancer.

  PMID 16969349 · PMC2360724 · British journal of cancer · 2006 · 8 claims · 8 setups

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  K-Ras codon 12 mutations are significantly associated with metastatic (M+) CRC

  crc 202-patient pcr-rflp sscp immunohistochemistry

• Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.

  PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations in the OAZ3 gene are not a common cause of male infertility

  genomic coding inferred oaz3 direct sscp haplotype

• Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

  PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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  E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

  genomic extracted cdna patients pcr rt-pcr restriction

• p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

  PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups

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  p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change

  resected exon p53 hcc gc-clamped sscp restriction

• Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

  PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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  LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

  lobular pcr loh loh pcr-sscp sequencing

• APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

  PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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  Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

  blood pcr pcr-amplified cdna chemical sequencing single-strand

• Spotted-fever group Rickettsia in Dermacentor variabilis, Maryland.

  PMID 15496254 · PMC3320417 · Emerging infectious diseases · 2004 · 8 claims · 6 setups

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  SFG Rickettsia infection prevalence in Maryland D. variabilis was 3.8% (15/392)

  dermacentor tick-derived glta field pcr single sequencing