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 43

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

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups

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A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family

patients genomic chromosomes clinical fluorescein full-field
Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.

PMID 18439357 · PMC2600263 · Emerging infectious diseases · 2008 · 8 claims · 8 setups

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71% (91/129) of Chinese cryptococcosis clinical isolates (1985-2006) came from patients with no apparent risk factor, versus only 8.5% from AIDS patients, contrasting sharply with other countries

clinical neoformans randomly balb pcr ura5 igs1-5.8s
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

family genomic unrelated gja8 clinical microsatellite sequencing
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

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MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

population-based swedish colorectal hnpcc clinical histopathological microsatellite
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

amish unrelated same overall microsatellite combinatorial permutation
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
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

ftld grn genomic post-mortem clinical volumetric direct
Multiple epiphyseal dysplasia.

PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

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An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

family patients microsatellite sequencing clinical
Numbers of mutations to different types of colorectal cancer.

PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

colorectal germline finnish seer microsatellite germline bayesian
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

genomic pcr additional cat linkage direct heteroduplex
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups

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A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.

family genomic affected linkage direct pcr
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

PMID 17327828 · PMC2633468 · Molecular vision · 2007 · 6 claims · 5 setups

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AD non-syndromic high-grade myopia in the Hutterite family MYO-101 shows significant linkage to a locus on chromosome 10q21.1

hutterite same pcdh15 genome-wide fine-point candidate
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

genomic affected patients linkage direct snp
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

talana volunteers same ogliastra genome-wide clinical genotype
Identification of novel prognostic markers in cervical intraepithelial neoplasia using LDMAS (LOH Data Management and Analysis Software).

PMID 15673474 · PMC548130 · BMC bioinformatics · 2005 · 8 claims · 3 setups

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LDMAS software integrates LOH molecular data with clinico-pathological data for prognostic marker discovery

archival records combined loh medical statistical
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

lobular pcr loh loh pcr-sscp sequencing
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

south genomic family genetic direct bioinformatic

Experiments

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

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

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Multiple epiphyseal dysplasia.

Numbers of mutations to different types of colorectal cancer.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

Identification of novel prognostic markers in cervical intraepithelial neoplasia using LDMAS (LOH Data Management and Analysis Software).

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.