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 34

System / cell line: families ✕ Assay: multiplex ✕ Clear

PRKCA and multiple sclerosis: association in two independent populations.

PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

finnish canadian unrelated blood snp dense multipoint
Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups

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Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype

multiplex individuals fia subjects genomewide snp medical
Genetics of bipolar disorder.

PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups

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BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations

multiplex pooled bp-affected monozygotic genome-wide genome candidate
Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups

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A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis

multiplex affected subjects cluster-specific family-based continuous wisconsin
Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

PMID 18501021 · PMC2413256 · BMC cancer · 2008 · 8 claims · 3 setups

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A large genomic deletion spanning exons 1A-13 of BRCA1 (>43 kb, including the promoter) was identified in one Northern Finnish family with a history of ovarian cancer.

germline mlpa
Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups

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Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families

genomic egyptian same peripheral multiplex clinical electromyography
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
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
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

genomic pcr family truncation pcr multiplex
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

germline unaffected index randomly brca1 tyrer-cuzick strp
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
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
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
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups

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BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers

french-canadian families brca1-positive same targeted full-length multiplex
Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

PMID 17264398 · PMC3850613 · Disease markers · 2006 · 7 claims · 4 setups

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Significant associations (p ≤ 0.01) were found between BPD subgroups and alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B

greek genomic family-based pyrosequencing pcr
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups

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Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families

leucocyte slovenian truncation denaturing multiplex
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

genomic pcr long-distance pcr sanger
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

patients multiplex index pedigree genome-wide fine-mapping haplotype
Examination of tetrahydrobiopterin pathway genes in autism.

PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

non-hispanic subset trios case snp two-point pedigree
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

blood germline tumor family mutation mlpa microsatellite

Experiments

PRKCA and multiple sclerosis: association in two independent populations.

Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

Genetics of bipolar disorder.

Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

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

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

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

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

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

BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Examination of tetrahydrobiopterin pathway genes in autism.

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.