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).

• 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

• Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

  PMID 11734061 · PMC60523 · BMC genetics · 2001 · 7 claims · 3 setups

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  DHPLC can readily discriminate the two known mutational events (c.365G>A and c.365~366GC>AT) that both cause the R122H mutation

  genomic pcr independently pcr denaturing 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

• Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).

  PMID 15234325 · PMC7129141 · International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2004 · 7 claims · 3 setups

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  Human aminopeptidase N (APN/CD13/ANPEP) is the receptor for human coronavirus 229E (HCoV-229E)

  genomic cloned consensus pcr molecular sequence

• Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.

  PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups

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  The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).

  genomic pcr cdna pcr-sscp sequencing

• Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

  PMID 16225677 · PMC1274336 · BMC psychiatry · 2005 · 8 claims · 3 setups

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  Systematic mutation screening of KIAA0767 and KIAA1646 was performed in chromosome 22q-linked periodic catatonia pedigrees

  genomic unrelated systematic case-control

• Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

  PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups

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  HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.

  genomic sequence-specific direct melting

• Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

  PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups

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  Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.

  genomic pcr denaturing direct

• EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

  PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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  A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

  genomic patients dhplc pcr clinical

• Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

  PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups

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  DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia

  genomic direct targeted

• Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

  PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups

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  Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.

  genomic real-time rflp sequencing

• Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.

  PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups

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  Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene

  genomic same real-time prior

• A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.

  PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups

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  The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects

  genomic subset genotype pcr-based sequencing chi-square

• An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

  PMID 19925645 · PMC2791104 · BMC bioinformatics · 2009 · 7 claims · 3 setups

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  The loop design compares three patients pairwise across three hybridizations instead of each patient against a normal reference, using all arrays for informative test samples and avoiding ambiguity from benign CNVs in a reference sample.

  genomic e.g array karyotyping fish

• Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

  PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups

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  Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent

  genomic same healthy direct genome-wide

• The application of genomic technology to combat parasitic disease.

  PMID 16454893 · PMC1914215 · Parasitology · 2004 · 8 claims · 8 setups

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  Genomic resources from mammalian hosts can be exploited to understand parasitic processes from the host's standpoint, illustrated by host cell penetration by Trypanosoma cruzi.

  trypanosoma toxoplasma parasite eimeria host proteomics comparative

• Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.

  PMID 9197534 · PMC5921420 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 2 setups

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  Germline BRCA1 mutations were detected in 7 of 19 Japanese cancer families (4 breast-ovarian, 3 site-specific ovarian)

  genomic tumor single-strand loss

• 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 BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

  PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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  BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

  genomic single-strand direct

• Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

  PMID 16026601 · PMC1637030 · BMC bioinformatics · 2005 · 8 claims · 2 setups

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  DF-SNPs, a novel adaptation of the Decision Forest method, can classify esophageal cancer cases vs. controls based on SNP genotype data with high concordance, sensitivity, and specificity.

  genomic snp high-throughput decision