Search results for "1697"

showing 4 items of 4 documents

Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional study

2019

ObjectiveTo study the association of genes involved in the mitochondrial respiratory chain (MRC) pathway with body mass index (BMI) and obesity risk.DesignThis work studies three cross-sectional populations from Spain, representing three provinces: HORTEGA (Valladolid, Northwest/Centre), SEGOVIA (Segovia, Northwest/centre) and PIZARRA (Malaga,South).SettingForty-eight single nucleotide polymorphisms (SNPs) from MRC genes were selected and genotyped by SNPlex method. Association studies with BMI and obesity risk were performed for each population. These associations were then verified by analysis of the studied population as a whole (3731 samples).ParticipantsA total of 3731 Caucasian indivi…

AdultMaleobesityGenotypeCross-sectional studyPopulationRespiratory chainmitochondrial respiratory chain030209 endocrinology & metabolismSingle-nucleotide polymorphismPolymorphism Single NucleotideWhite PeopleBody Mass IndexMitochondrial Proteins03 medical and health sciences0302 clinical medicineRisk FactorsMedicineHumans1506educationAlleles030304 developmental biologyGenetic associationAged0303 health scienceseducation.field_of_studybusiness.industryResearch1697Genetics and GenomicssnpGeneral MedicineMiddle Agedmedicine.diseaseObesityMitochondrial respiratory chainCross-Sectional StudiesElectron Transport Chain Complex ProteinsSpainFemalebusinessBody mass indexDemographyBMJ Open
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La salud de Europa considerada en estado de crisis : Advertencia para los aliados sobre las condiciones de paz, que oy propone la Francia / Traduccio…

1694

Sig. A-F8

Gran Aliança Guerra de la 1689-1697 Obres anteriors a 1800DIG-BH
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Palladion Theosophicum : septem fultum columnis, congrua thesium varietate circumornatis ... / singulas propugnaturus ... pro obtinenda almae Sophiae…

1697

Escut xil. de la Ciutat de València a continuació de la port. Caplletra ornada Sign.: [ ]2, A-I4 Reclams Port. amb orla tip.

Teologia dogmàtica Discursos acadèmics València (Comunitat valenciana) 1697 Obres anteriors a 1800
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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

2013

Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. Design Prospective analysis. Patients 19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF . When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe …

business.industryWaardenburg syndromePoint mutationResearch16971689Copy number analysisTietz syndromeGenetics and GenomicsGeneral MedicineGene mutationMicrophthalmia-associated transcription factorBioinformaticsmedicine.diseaseCongenital hearing lossMedicineMissense mutation1506business1719BMJ Open
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