Search results for " malformations."

showing 2 items of 92 documents

Similarly increased congenital anomaly rates after intrauterine insemination and IVF technologies: a retrospective cohort study

2012

International audience; BACKGROUND: While intrauterine insemination (IUI), a simple, inexpensive and non-invasive technique, is the most used assisted reproduction technology (ART) worldwide, the risk of major birth defects following IUI is paradoxically not well documented. METHODS: Retrospective cohort study performed in Burgundy, France, over a 9-year period which consisted of the cross analysis of two prospective databases, the Burgundy perinatal network database and the database of the assisted conception units in Burgundy. A total of 1348 ART singletons [in vitro fertilization technologies (IVFT): n= 903; IUI: n= 445] matched with 4044 infants conceived naturally, 552 ART twins (IVFT:…

medicine.medical_specialtymedicine.medical_treatment[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsFertilization in VitroBiologyInseminationInseminationCongenital Abnormalities03 medical and health sciences0302 clinical medicinePregnancyRisk FactorsmedicineConfidence IntervalsOdds RatioPrevalenceHumans030212 general & internal medicineInsemination ArtificialRetrospective StudiesGynecologyPregnancy[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics030219 obstetrics & reproductive medicineIntrauterine inseminationArtificial inseminationRehabilitationObstetrics and GynecologyCongenital malformationsRetrospective cohort studyOdds ratiomedicine.diseaseConfidence intervalReproductive MedicineArtificialFemale
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

2022

BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…

musculoskeletal diseasesArtrogriposi múltiple congènitaSettore BIO/18 - GENETICAhuman geneticsneuromuscular diseasesGenomicsBiologyCONTRACTURESCLASSIFICATIONdiseasessymbols.namesakeDiagnòsticGene mappingarthrogryposis multiplex congenitaExome SequencingOF-FUNCTION MUTATIONSGeneticsMedicine and Health SciencesgenomicsHumansGenetics (clinical)Exome sequencingArthrogryposisSanger sequencingGeneticsArthrogryposis multiplex congenitaGenetic heterogeneitySPINAL MUSCULAR-ATROPHYProteinsnervous system malformationsDYSTROPHYDisease gene identificationGENEHuman geneticsPedigreeETIOLOGYPhenotypesymbolsneuromuscularGenèticaTranscription Factors
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