Search results for " 14"

showing 10 items of 676 documents

Association of loss of 1p and alterations of chromosome 14 in meningioma progression

2004

Meningiomas are usually benign tumors; however, they can recur after surgical resection and occasionally show histologic progression to a higher grade II and III malignancy. The second most frequently reported genetic abnormality after 22q loss is deletion of 1p, although alterations in 9q, 10q, and 14q are also implicated in meningioma progression. Fourteen tumors comprising six benign, four atypical, and four malignant meningiomas were examined by means of cytogenetic and fluorescence in situ hybridization analysis. All tumors showed losses in different regions of 1p, with 1p11, 1p13, 1p21, 1p22, 1p32, and 1q21 breakpoints; eight tumors also presented alterations of chromosome 14. Five of…

AdultMaleCancer ResearchPathologymedicine.medical_specialtyBiologyBioinformaticsMalignancyMeningiomaMonosomyGeneticsmedicine1p DeletionHumansMolecular BiologyIn Situ Hybridization FluorescenceAgedChromosomes Human Pair 14medicine.diagnostic_testBreakpointChromosomeMiddle Agedmedicine.diseaseHistologic ProgressionChromosomes Human Pair 1Tumor progressionKaryotypingFemaleChromosome DeletionMeningiomaFluorescence in situ hybridizationCancer Genetics and Cytogenetics

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Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency

1997

We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…

AdultMaleProbandPathologymedicine.medical_specialtyWeaknessGenetic LinkageBiopsyBiologyMuscular DystrophiesOculopharyngeal muscular dystrophySural NervePathognomonicGenetic linkageCarnitineGermanymedicineHumansCarnitineGenetics (clinical)AgedChromosomes Human Pair 14Family HealthGeneticsElectromyographyHaplotypeMiddle Agedmedicine.diseaseDysphagiaMitochondriaPedigreeMicroscopy ElectronPhenotypeNeurologyOculomotor MusclesPediatrics Perinatology and Child HealthPharyngeal MusclesFemaleNeurology (clinical)medicine.symptommedicine.drugNeuromuscular Disorders

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Association of microsatellite polymorphisms of the human 14q13.2 region with type 2 diabetes mellitus in Latvian and Finnish populations.

2007

A polymorphic microsatellite in intron 6 of the human proteasome core particle PSMA6 gene (HSMS006), and four other microsatellites localized upstream on human chromosome 14q13.2 (HSMS801, HSMS702, HSMS701, HSMS602), were genotyped in 104 type 2 diabetic patients and 129 age-matched control subjects from Latvia and replicated in 91 type 2 diabetic patients and 88 age-matched healthy control subjects from the Botnia Study in Finland. In type 2 diabetic patients from both populations the HSMS006 (TG)22 allele was two times more frequent compared to the control group. In the Latvian population the (CAA)8 allele of the HSMS602 marker was less frequent in the diabetic group, as was the (AC)24 al…

AdultMaleProteasome Endopeptidase ComplexPopulationPSMA6Type 2 diabetesBiologyGene FrequencyPolymorphism (computer science)Multienzyme ComplexesGeneticsmedicineHumansAlleleeducationAllele frequencyGenetics (clinical)AllelesFinlandAgedGeneticsChromosomes Human Pair 14education.field_of_studyPolymorphism GeneticType 2 Diabetes MellitusMiddle Agedmedicine.diseaseLatviaDiabetes Mellitus Type 2Case-Control StudiesMicrosatelliteFemaleMicrosatellite RepeatsAnnals of human genetics

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Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

2009

Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, neonatal feeding problems, muscular hypotonia, motor and developmental delay, small hands and feet, and truncal obesity. Conventional cytogenetic analyses, fluorescence in situ hybridization subtelomere screening, multiplex ligation-dependent probe amplification analysis of common microdeletion and microduplication syndromes, and methylation analysis of SNRPN all gave normal re…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesMolecular Sequence DataMothersBiologyMethylationPolymorphism Single NucleotideEpigenesis GeneticGenomic ImprintingIntergenic regionGeneticsmedicineHumansAbnormalities MultipleEpigeneticsChildGenetics (clinical)GeneticsChromosomes Human Pair 14Muscular hypotoniamedicine.diagnostic_testBase SequenceChromosomeUniparental DisomySubtelomerePhenotypeDifferentially methylated regionsPhenotypeMutationFemaleFluorescence in situ hybridizationClinical genetics

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(Table 1) Age determination of sediment core SO147_106KL

2005

Here we present a high-resolution marine sediment record from the El Niño region off the coast of Peru spanning the last 20,000 years. Sea surface temperature, photosynthetic pigments, and a lithic proxy for El Niño flood events on the continent are used as paleo-El Niño-Southern Oscillation proxy data. The onset of stronger El Niño activity in Peru started around 17,000 calibrated years before the present, which is later than modeling experiments show but contemporaneous with the Heinrich event 1. Maximum El Niño activity occurred during the early and late Holocene, especially during the second and third millennium B.P. The recurrence period of very strong El Niño events is 60-80 years. El…