Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion. [PDF]
Lin R +14 more
europepmc +1 more source
Marker Chromosomes and G-Banding for Location of Genes in the Chicken ,
Robert N. Shoffner
openalex +1 more source
Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]
Salmaninejad A +6 more
europepmc +1 more source
New cell lines expanding the diversity of Ewing sarcoma models
What's New? A chromosomal translocation between the EWSR1 and ETS genes is the key oncogenic driver in Ewing sarcoma. EWSR1::FLI1, the most frequent fusion, is subdivided into different fusion types with unclear prognostic relevance. Here, the authors describe the establishment and characterization of four new, intrinsically immortal, patient‐derived ...
Maximilian Kerkhoff +13 more
wiley +1 more source
Cytogenetics and Cytogenomics in Clinical Diagnostics: Genome Architecture, Structural Variants, and Translational Applications. [PDF]
Federico C +5 more
europepmc +1 more source
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source
Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio. [PDF]
Haake J, Steenpass L.
europepmc +1 more source
Assignment<footref rid="foot01"><sup>1</sup></footref> of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25→q26 by in situ hybridization [PDF]
Serguei Kozlov +6 more
openalex +1 more source
This study examines the prevalence of blaNDM‐1 and blaIMP‐1 metallo‐β‐lactamase genes in meropenem‐resistant Escherichia coli isolates using mCIM and PCR. The results indicate a higher prevalence of blaNDM‐1 and suggest the presence of alternative resistance mechanisms in some strains, emphasizing the need for further research on antimicrobial ...
Mehdi Roshdi Maleki
wiley +1 more source

