2024
An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review
Yilmaz R, Hittelman A, Vash-Margita A, Dinauer C, Weinzimer S, Gujral J. An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review. JCEM Case Reports 2024, 3: luae239. PMID: 39726663, PMCID: PMC11669865, DOI: 10.1210/jcemcr/luae239.Peer-Reviewed Case Reports and Technical NotesAnti-Mullerian hormoneIntra-abdominal gonadsInhibin B levelsPrenatal ultrasound findingsElevated gonadotropin levelsRisk of malignancyHeterozygous pathogenic variantsGenotype-phenotype correlationNonpalpable gonadsGenital phenotypeLabioscrotal foldsFallopian tubeGonadotropin levelsClinical courseUrine retentionAtypical genitaliaUrogenital sinusVaginal openingCase reportSeparate uteriPathogenic variantsDEAH-boxRibosome biogenesisTestosterone levelsNovel etiology
2021
Prenatal ultrasound findings of covered bladder exstrophy and persistent cloaca
Ozcan T, Woo L, Wien M, Lazebnik N. Prenatal ultrasound findings of covered bladder exstrophy and persistent cloaca. Journal Of Clinical Ultrasound 2021, 49: 834-837. PMID: 34235755, DOI: 10.1002/jcu.23036.Peer-Reviewed Original Research
2014
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Molecular Cytogenetics 2014, 7: 84. PMID: 25530804, PMCID: PMC4271441, DOI: 10.1186/s13039-014-0084-5.Peer-Reviewed Original ResearchPrenatal ultrasound findingsUltrasound findingsMultiplex ligation-dependent probe amplificationCri du chat syndromeArray comparative genomic hybridization analysisComparative genomic hybridization analysisCytogenomic abnormalitiesLigation-dependent probe amplificationGenomic hybridization analysisMb deletionJacobsen syndromeGenetic counselingChat syndromeAbnormal ultrasound findingsPost-test genetic counselingMb duplicationPaternal balanced translocationSplit hand/foot malformationProbe amplificationACGH analysisMaternal screeningSpontaneous abortionPrenatal casesClinical utilityBackgroundThe aims
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply