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Seite 3 für „Chromosom“ · Literaturverweise aus öffentlichen Artikeln
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Antenatal screening for chromosomal abnormalities
pubmed · 35279726
Literaturverweis öffnen11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation
pubmed · 37475652
Literaturverweis öffnenA highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y)
pubmed · 41285118
Literaturverweis öffnenPrenatal diagnosis of congenital diaphragmatic hernia with mosaicism of chromosomes 17q and 18q in Iran: a case report
pubmed · 42082986
Literaturverweis öffnenAcute Myeloid Leukemia, Myelodysplasia-Related (AML-MR), With del(5q) and Double Minutes Containing Chromosomal Segment 11q24 Leading to Amplification and Expression of FLI1
pubmed · 41982344
Literaturverweis öffnenInfluence of X-Chromosome Inactivation in Pathogenesis of Turner Syndrome
pubmed · 42496531
Literaturverweis öffnenThe Extra X Chromosome and Autoimmune Susceptibility in Klinefelter Syndrome
pubmed · 42400286
Literaturverweis öffnenThe role of cytokines in first trimester pregnancy losses with fetal chromosomal anomaly
pubmed · 26817314
Literaturverweis öffnenCurrent survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies
pubmed · 32449585
Literaturverweis öffnenThe epidemiology of sex chromosome abnormalities
pubmed · 32506765
Literaturverweis öffnenA case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
pubmed · 36966012
Literaturverweis öffnenCase Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies
pubmed · 42017141
Literaturverweis öffnenFirst prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements
pubmed · 40069405
Literaturverweis öffnenPrenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result
pubmed · 34247824
Literaturverweis öffnenCost-effectiveness of non-invasive prenatal testing (NIPT) versus direct amniocentesis for screening of fetal chromosomal aneuploidies in Brazilian private health system
pubmed · 41851722
Literaturverweis öffnenClinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region
pubmed · 41440765
Literaturverweis öffnenIntegrated genomic and clinical indicators for predicting foetal chromosomal abnormalities: development and validation of a nomogram model
pubmed · 41960707
Literaturverweis öffnenPoints to consider for the next-generation-sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG)
pubmed · 41615347
Literaturverweis öffnenChromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities
pubmed · 42302064
Literaturverweis öffnenMacular and optic nerve hypoplasia in chromosome 2p partial trisomy
pubmed · 41290552
Literaturverweis öffnenMutation profile and chromosomal abnormality in adenomyosis
pubmed · 40679511
Literaturverweis öffnenMeiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers
pubmed · 40957968
Literaturverweis öffnenPreimplantation genetic testing and carrier status detection in patients with balanced chromosomal rearrangements: a real-world multicenter retrospective study
pubmed · 40246052
Literaturverweis öffnenNon-clonal interphase markers of chromosomal instability in malignancy acquisition and cancer progression
pubmed · 42456230
Literaturverweis öffnenImmune reconstitution inflammatory syndrome accompanied by transient immune and chromosomal abnormality after azathioprine exposure in utero
pubmed · 41543248
Literaturverweis öffnenGenetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies
pubmed · 40469905
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