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).
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Environmental Burkholderia cepacia complex isolates in human infections.
PMID 17552100 · PMC2725883 · Emerging infectious diseases · 2007 · 6 claims · 4 setups
More than 20% of clinical Bcc isolates examined are indistinguishable by MLST from environmental isolates, linking the natural environment to emergence of clinical infections
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Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.
PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups
B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence
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Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.
PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups
Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa
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Multi locus sequence typing of Chlamydiales: clonal groupings within the obligate intracellular bacteria Chlamydia trachomatis.
PMID 18307777 · PMC2268939 · BMC microbiology · 2008 · 8 claims · 7 setups
MLST of 26 C. trachomatis strains reveals three non-overlapping clonal complexes (groups I, II, III)
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Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups
Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.
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Genomics, proteomics and bioinformatics: all in the same boat.
PMID 12374575 · PMC244909 · Genome biology · 2002 · 8 claims · 8 setups
Microarray sensitivity has improved enough to analyze clinical samples as small as 10-50 nanograms, and many early microarray experiments may need to be repeated due to data quality issues
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.
PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups
Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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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
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Proteomic profiling of amniotic fluid in preterm labor using two-dimensional liquid separation and mass spectrometry.
PMID 19012186 · PMC3163445 · The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2008 · 8 claims · 6 setups
Amniotic fluid protein composition can be analyzed by combining 2D liquid chromatography and mass spectrometry to identify differentially expressed proteins in preterm labor
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Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups
The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1
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Dual and recombinant infections: an integral part of the HIV-1 epidemic in Brazil.
PMID 10081673 · PMC2627691 · Emerging infectious diseases · 1999 · 8 claims · 8 setups
Among 79 HIV-1 infected patients, 3 (3.8%) had dual infections, 6 (7.6%) had recombinant infections, and 70 (88.6%) had single-subtype infections
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Genetic diversity among Enterococcus faecalis.
PMID 17611618 · PMC1899230 · PloS one · 2007 · 7 claims · 7 setups
Virulence and antibiotic resistance traits are distributed across many diverse E. faecalis lineages rather than confined to one clade
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The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.
PMID 19105833 · PMC2626571 · BMC cardiovascular disorders · 2008 · 7 claims · 4 setups
T-allele carriers of the CYP2J2 G-50T polymorphism had significantly more myocardial infarctions than G/G carriers in univariate analysis (21.6% vs 13.7%, p=0.026)
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups
A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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BRCA1 mutations in southern England.
PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups
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
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Reduced expression of Axin correlates with tumour progression of oesophageal squamous cell carcinoma.
PMID 12771989 · PMC2377153 · British journal of cancer · 2003 · 7 claims · 6 setups
Reduced Axin expression is correlated with tumour progression of oesophageal SCC