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).

• X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.

  PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups

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  This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)

  activated pbmcs genomic pcr flow rt-pcr long-range

• Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

  PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups

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  Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing

  genomic anonymized dried pcr-restriction direct molecular

• Recombinant vaccine-derived poliovirus in Madagascar.

  PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups

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  Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates

  poliovirus genbank rflp partial sequence

• Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.

  PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups

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  Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.

  genomic hospitalized pcr-rflp structured

• Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

  PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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  An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

  genomic arci pcr clinical pedigree

• The DNA sequence of the human X chromosome.

  PMID 15772651 · PMC2665286 · Nature · 2005 · 8 claims · 8 setups

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  The euchromatic sequence of the human X chromosome was determined to 99.3% completeness (~155 Mb total)

  pac selected chromosome clone-based shotgun comparative

• Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

  PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups

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  CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort

  peripheral subset same pcr direct statistical

• V-MitoSNP: visualization of human mitochondrial SNPs.

  PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups

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  V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface

  blood blood-derived mtdna standard agarose rflp

• The role of p53 inactivation in human cervical cell carcinoma development.

  PMID 7841033 · PMC2033612 · British journal of cancer · 1995 · 8 claims · 7 setups

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  HPV DNA sequences were detected in 43 of 47 (91.5%) primary uterine cervical cancers

  formalin-fixed cervical p53 recurrent pcr southern pcr-single-strand

• Detection of p53 mutations in precancerous gastric tissue.

  PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups

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  p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay

  gastric enzyme-resistant gastritis pylori-positive restriction sequencing electron

• A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

  PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups

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  A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S

  proband cousins mutation serum electrocardiography

• 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

• Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

  PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

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  The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

  sporadic ctnnb1 paired frozen direct restriction snp

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• CapsID: a web-based tool for developing parsimonious sets of CAPS molecular markers for genotyping.

  PMID 16686952 · PMC1471797 · BMC genetics · 2006 · 7 claims · 1 setups

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  CapsID identifies snip-SNPs (SNPs that alter restriction endonuclease recognition sites) within reference sequence alignments and designs PCR primers around them

  sequence restriction

• DNA sequence and analysis of human chromosome 9.

  PMID 15164053 · PMC2734081 · Nature · 2004 · 8 claims · 8 setups

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  The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs, representing >99.6% of the region.

  bac chromosome fibres chimpanzee clone-based restriction computational

• A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

  PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups

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  A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I

  fibroblasts liver genomic tnt northern western liver

• Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

  PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups

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  No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.

  genomic tumour paired constant restriction sequencing

• MMASS: an optimized array-based method for assessing CpG island methylation.

  PMID 17041235 · PMC1635254 · Nucleic acids research · 2006 · 8 claims · 7 setups

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  MMASS-v2 (optimized AciI/HinP1I/HpyCH4IV/HpaII enzyme combination with McrBC digestion) offers improved sensitivity and statistical power for microarray-based CpG island methylation detection compared to MMASS-v1, MMASS-sub and the Nouzova method

  hct116 sssi-methylated hcgi12k methylation spike-in cobra

• 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