Search results for "Anotia"

showing 2 items of 2 documents

Genome-wide association study reveals the locus responsible for microtia in Valle del Belice sheep breed.

2018

Microtia is a congenital deformity of the outer ear with phenotypes varying from a small auricle to total absence (anotia). The genetic basis is still poorly understood, and very few studies have been performed in sheep. Valle del Belice sheep is a breed showing microtia. The aim of this study was to identify the potential genomic regions involved in microtia in sheep. A total of 40 individuals, 20 with microtia and 20 normal, were genotyped with the Illumina OvineSNP50 BeadChip. The comparison among the results from a genome-wide association study, Fisher's exact test and FST analysis revealed a single strong association signal: rs419889303 on chromosome 1, located within intron 3 of the C…

0301 basic medicineCandidate geneGenotypeSheep Diseasesfisher's testLocus (genetics)Genome-wide association studyBiologyBreedingPolymorphism Single NucleotideCLRN1 geneear size03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCLRN1 gene fisher's test F-ST genome-wide association studies ear size ovineGeneticsmedicineAnimalsGenetic Association StudiesSheep DomesticCongenital MicrotiaGeneticsSheepF-STMicrotia0402 animal and dairy scienceMembrane ProteinsCLRN1 gene Fisher’s test FST genome-wide association studies ear size ovine04 agricultural and veterinary sciencesGeneral Medicinemedicine.disease040201 dairy & animal scienceBreedCLRN1 geneovineExact test030104 developmental biologyAnotiagenome-wide association studiesAnimal Science and ZoologyAnimal genetics
researchProduct

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

2012

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…

MaleEmbryologyPediatricsPregestational DiabetesPregnancy in DiabeticsMELLITUSPregnancyRisk FactorsNeural Tube DefectsRegistriesLivebirthsRISKeducation.field_of_studyOUTCOMESlivebirthsWOMENEarGeneral MedicineASSOCIATIONCongenital AnomaliesEuropeAnotiaPopulation SurveillanceFemaleNEURAL-TUBE DEFECTSLive BirthHernia UmbilicalAdultHeart Defects Congenitalmedicine.medical_specialtyPopulationPopulation Basedpopulation basedCongenital AbnormalitiesYoung AdultDiabetes mellitusAnencephalyBIRTH-DEFECTSmedicineDiabetes MellitusHumansMALFORMATIONSRisk factoreducationTYPE-1Congenital MicrotiaOmphaloceleSpina bifidabusiness.industrycongenital anomaliesInfant NewbornOdds ratioNATIONWIDEmedicine.diseaseEstados de Saúde e de Doençapregestational diabetesPregnancy ComplicationsPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth Defects Research. Part A: Clinical and Molecular Teratology
researchProduct