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).

• Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

  PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups

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  The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder

  genomic haplotype direct full

• The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

  PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups

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  The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.

  blood genomic subjects trios taqman microsatellite clinical

• A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

  PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

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  A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

  genomic tulp1 y79 haplotype direct mismatch-primer

• Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

  PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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  A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

  consanguineous same affected family sanger multiplex microsatellite

• Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

  PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2

  genomic peripheral setx sanger dosage long-range

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

  PMID 12877753 · PMC184376 · BMC neurology · 2003 · 8 claims · 5 setups

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  A novel frameshift mutation (1902A insertion) in exon 17 of the Krit1 gene creates a premature TAA stop codon, predicting a truncated Y634X protein.

  patients genomic mri sscp sanger

• Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

  PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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  Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

  peripheral genomic six individuals sequencing pcr microsatellite

• Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

  PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups

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  NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.

  mandenka worldwide hapmap nat2 full snp analysis

• Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

  PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups

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  The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)

  genomic opioid-dependent subjects direct taqman statistical

• A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

  PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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  A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

  affected family blood frmd7 microsatellite direct denaturing

• Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

  PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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  The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

  genomic erythrocytes direct pcr pcr-asp

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

  PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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  Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

  family additional unrelated mutant direct linkage targeted

• Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

  PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups

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  Microsatellite D17S798 in the 17q11.2 region shows significant association with MS

  nuclear accn1 genetic genotype microsatellite direct snp

• ATM variants and cancer risk in breast cancer patients from Southern Finland.

  PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups

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  Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group

  familial brca1 same genotype genotyping denaturing direct

• A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

  PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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  The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

  propositus relatives serologic allele-specific haplotype-specific

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

  PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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  Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

  genomic erythrocyte gnas sanger methylation-specific microsatellite

• 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