2024
CffDNA screening for Niemann–pick disease, type C1: a case series
Lau S, Fawaz R, Rigobello R, Bawazeer S, Alajaji N, Faqeih E, Li Y, Feng Y, Xia F, Eng C, Abedalthagafi M. CffDNA screening for Niemann–pick disease, type C1: a case series. Frontiers In Medicine 2024, 11: 1390693. PMID: 39161410, PMCID: PMC11330825, DOI: 10.3389/fmed.2024.1390693.Peer-Reviewed Original ResearchNext-generation sequencingInvasive diagnostic testsCffDNA screeningNiemann-Pick diseaseCustom data analysis pipelineAmplicon next-generation sequencingAmplicon-based next-generation sequencingDisease-causing variantsType C1Biallelic pathogenic variantsData analysis pipelinesCell-free fetal DNADetect chromosomal abnormalitiesMaternal peripheral bloodDiagnostic testsWeeks of gestationNPC1 geneHigh-risk pregnanciesPathogenic variantsAnalysis pipelineFamilial variantFetal DNAProgressive neurodegenerationChromosomal abnormalitiesPeripheral blood
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability
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