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).

Publications 1.3k Datasets 392.5k Experiments 19

System / cell line: patients ✕ Assay: automated ✕ Clear

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

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Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

genomic pcr real-time
Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups

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Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.

blood-derived lymphocytes maternal wild-type complete respiratory pcr-rflp
Genetic and biochemical studies in Argentinean patients with variegate porphyria.

PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

peripheral blood relative urine pcr rt-pcr enzyme
Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.

PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups

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Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.

microdissected previously pcr literature-derived
Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.

PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups

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Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.

fresh-frozen paired pcr genomic fluorescent automated
From single cells to whole organisms.

PMID 16420683 · PMC1414103 · Genome biology · 2005 · 8 claims · 8 setups

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The genetic-interaction map in S. cerevisiae is roughly four times as complex as the protein-protein interaction map, and genetic interactions do not overlap with physical interactions but instead predict functional neighborhoods

saccharomyces caenorhabditis mammalian cylindromatosis automated interference rnai
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups

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11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.

peripheral genomic truncation direct heteroduplex
A novel approach for rapid screening of mitochondrial D310 polymorphism.

PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups

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A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing

colorectal breast peripheral subset pcr-rflp sanger
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

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Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

patients eyes genomic ophthalmological a-mode electroretinogram
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.

PMID 17363414 · PMC2779891 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2007 · 8 claims · 6 setups

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High-density oligonucleotide/SNP platforms are superior to the BAC platform for genome-wide detection of copy-number variations smaller than 1 Mb

genomic normalized simulated tiling-resolution snp oligonucleotide
Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.

PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups

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CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue

peripheral prostate genomic allele-specific enzymatic determination
Molecular epidemiology of measles viruses in the United States, 1997-2001.

PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups

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The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.

b95a clinical pcr measles viral extraction rt-pcr
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
Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.

PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups

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Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied

extracted pcr-amplified pcr pcr pcr-sscp automated
Human stool contains a previously unrecognized diversity of novel astroviruses.

PMID 19814825 · PMC2765957 · Virology journal · 2009 · 8 claims · 8 setups

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Human stool contains a previously unrecognized diversity of astroviruses beyond the classic 8 serotypes and AstV-MLB1/AstV-VA1

stool consensus-pcr-positive negative one consensus specific sanger
Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.

PMID 17406619 · PMC2688820 · Nature protocols · 2007 · 8 claims · 7 setups

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Combining three human-optimized DOP-PCR primers before a secondary amino-labeled PCR increases array hybridization sensitivity and reproducibility sixfold compared to the standard 6MW DOP-PCR primer

large-insert patients test genomic array-cgh manual automated
The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups

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No CDX2 mutations predisposing to sporadic colorectal cancer were identified

genomic pcr cdna informative sscp pcr automated
Chips to hits.

PMID 11983055 · PMC139346 · Genome biology · 2002 · 8 claims · 8 setups

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Illumina's fiber-optic bead array technology allows ~2,000 oligonucleotide-based assays per bead array for high-throughput genotyping

individual yeast pools lncap cell-based affymetrix automated

Experiments

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.

Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.

From single cells to whole organisms.

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

A novel approach for rapid screening of mitochondrial D310 polymorphism.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.

Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.

Molecular epidemiology of measles viruses in the United States, 1997-2001.

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

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

Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.

Human stool contains a previously unrecognized diversity of novel astroviruses.

Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.

The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

Chips to hits.