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).

Publications 1.3k Datasets 392.5k Experiments 20

System / cell line: flanking ✕ Assay: microsatellite ✕ Clear

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups

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ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000

healthy spanish arstgd denaturing-hplc abcr400 direct
Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

PMID 19888451 · PMC2766054 · PloS one · 2009 · 7 claims · 4 setups

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Somatic mutation frequency (%MSI) of 3'UTR microsatellites in MSI-H colorectal tumors correlates significantly with microsatellite length (r=0.86, p=7.2×10−13), following an exponential growth model.

msi-h computational rb1cc1 normal pcr nonlinear real-time
Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups

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No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases

sporadic evaluable histologically loh direct rt-pcr
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

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A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

genomic family skeletal blood microsatellite direct multiplex
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
Sequence determinants of human microsatellite variability.

PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups

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Mean and maximum number of repeats across individuals are positively correlated with heterozygosity

hgdp-ceph genome calibrated microsatellite blastn sequence
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

palestinian genomic probands lymphoblasts targeted sanger pcr
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
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups

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The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1

family genomic pcr-amplified two-point direct single
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

three-generation genomic crybb1 family genotyping direct restriction
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
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

melanoma-prone haplotype microsatellite maximum
A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.

PMID 16904005 · PMC1779589 · Genome biology · 2006 · 8 claims · 7 setups

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Eight SNPs with extreme European-branch locus-specific branch length (LSBL) were selected from a genome-wide FST dataset as candidates for selection in Europe.

snp irish french fst-based microsatellite genome-wide
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

blood parental model sanger parental microsatellite
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
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

french index unaffected mutation-carrier mutation microsatellite haplotype
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

patients family genomic clinical microsatellite two-point
BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups

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BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations

peripheral algerian sanger mlpa microsatellite
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

genomic peripheral blood fresh direct snp rt-pcr
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

Experiments

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

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

Sequence determinants of human microsatellite variability.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

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

Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

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