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Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).
J Assist Reprod Genet
January 2025
Department of Human Genetic, Altamedica, Rome, Italy.
A Genetic Make Up of Italian Lipizzan Horse Through Uniparental Markers to Preserve Historical Pedigrees.
Biology (Basel)
December 2024
Consiglio per la Ricerca in Agricoltura e l'Analisi dell'Economia Agraria (CREA), Research Centre for Animal Production and Aquaculture, Via Salaria 31, 00015 Monterotondo, Italy.
Lipizzan is a famous horse breed dating back to 1580 when the original stud of Lipica was established by the Hasburg Archduke Charles II. Currently, the Italian State Stud of Lipizzan Horses (ASCAL) is a conservation nucleus managed through strict mating rules where mitochondrial DNA sequences are used to verify the correct assignment of mares to a historical pedigree maternal lineage. Here, we analyzed the D-loop sequences of Lipizzan horses from the ASCAL in Monterotondo (Rome, Italy) in order to confirm their pedigree assignment to known female founder families.
View Article and Find Full Text PDFLong-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.
J Med Genet
December 2024
Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to determine the mechanism and recurrence risk.
View Article and Find Full Text PDFIncidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Front Genet
October 2023
Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a single gene or region. We report a case of a 16-month-old girl with clinical suspicion of Silver-Russell syndrome (SRS).
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