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 46

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

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

genomic pcr polycystin-1 czech denaturing sanger family
Isolated eyelid closure myotonia in two families with sodium channel myotonia.

PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

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The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

patients blood index standardized needle direct
CNGA3 mutations in two United Arab Emirates families with achromatopsia.

PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

achromatopsia genomic hek293 clinical pcr segregation
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

blood-derived individuals patients excised genomic structured tumor
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

genomic oa1 one gpr143 pcr heteroduplex junction-fragment
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
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

blood cos-1 bacteria mitochondria sequencing cell-based recombinant
Clinical correlates of depressive symptoms in familial Parkinson's disease.

PMID 18785635 · PMC2872794 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 7 claims · 5 setups

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Depressive symptoms are significantly associated with Hoehn and Yahr stage, motor impairment (UPDRS Part III), and functional disability/ADL measures (Blessed, UPDRS Part II)

familial clinical genotyping sequencing
A spectrum of severe familial liver disorders associate with telomerase mutations.

PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

leukocyte leukocytes reconstitution liver sanger flow telomerase
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
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 17100996 · PMC2714973 · Clinical genetics · 2006 · 6 claims · 6 setups

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RSK2(RPS6KA3) mutations can present with a mild or atypical Coffin-Lowry phenotype overlapping clinically with nonsyndromic X-linked mental retardation

blood-derived affected unaffected population mutation clinical segregation
A missense mutation in LIM2 causes autosomal recessive congenital cataract.

PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

genomic mp19 patients pcr sscp cosegregation
Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

genomic pcr affected pediatric single direct restriction
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
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
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
Utah's Family High Risk Program: bridging the gap between genomics and public health.

PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups

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Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease

high high-risk fhrp health family-based satisfaction
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

Experiments

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Isolated eyelid closure myotonia in two families with sodium channel myotonia.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

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

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Clinical correlates of depressive symptoms in familial Parkinson's disease.

A spectrum of severe familial liver disorders associate with telomerase mutations.

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

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

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

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

Utah's Family High Risk Program: bridging the gap between genomics and public health.

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