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).

• A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

  PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups

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  PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.

  genomic healthy peripheral affected pcr genomic full

• Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

  PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups

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  The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.

  korean forearm patient's lungs direct quantitative family

• Mutation analysis of the MDM4 gene in German breast cancer patients.

  PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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  Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

  german bilateral mdm4 lymphoid direct rflp-based splice

• PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

  PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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  None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

  blood finnish combined formalin-fixed direct additional statistical

• Mutations in NYX of individuals with high myopia, but without night blindness.

  PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

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  Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

  unrelated individuals high model direct sequencing electroretinogram

• Molecular epidemiology of DFNB1 deafness in France.

  PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

  gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc

• A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

  PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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  The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

  peripheral g2385r patients genotype pcr full clinical

• MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

  PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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  The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

  peripheral genomic pcr leukocytes two-point direct pcr

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

  PMID 14562025 · PMC2394328 · British journal of cancer · 2003 · 8 claims · 4 setups

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  Women with bilateral breast cancer show greater genetic predisposition (higher family history prevalence) than women with unilateral breast cancer

  blood-derived blood random dhplc microsatellite duplicate

• Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

  PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

  genomic family chromosomes hela dgge oligonucleotide restriction

• 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

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  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.

  genomic proband blood patients pcr long-range combined

• Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

  PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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  40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

  genomic pomt2 population genome-wide pcr multiplex

• Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

  PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups

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  Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families

  genomic patients sanger brain clinical

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

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  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

  PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups

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  There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer

  germline lymphoblastoid dhplc sequencing rt-pcr

• Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

  PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups

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  CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations

  korean family bronchial quantitative sweat cftr

• Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

  PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families

  genomic relative p16ink4a pcr pearson student's

• Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

  PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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  Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

  peripheral wecare atm mutation case-control variant