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Fetus Conceived via In Vitro Fertilization With Mosaic Uniparental Isodisomy and Two Balanced Translocations.
Cureus
June 2024
Maternal-Fetal Medicine, Wellstar Kennestone Hospital, Marietta, USA.
We present a case of a fetus acquiring two different balanced translocations from each parent and subsequent uniparental isodisomy from postzygotic loss of a paternal chromosome. Balanced chromosomal translocations occur in 0.14% of the population and increase the risk of other genetic abnormalities, such as uniparental disomy (UPD) and mosaicism.
View Article and Find Full Text PDFDevelopmental milestones and daily living skills in individuals with Angelman syndrome.
J Neurodev Disord
June 2024
Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz.
View Article and Find Full Text PDFPhylogenetic insights into the genetic legacies of Hungarian-speaking communities in the Carpathian Basin.
Sci Rep
May 2024
Department of Reference Sample Analysis, Institute of Forensic Genetics, Hungarian Institute for Forensic Sciences, Gyorskocsi u. 25, Budapest, 1027, Hungary.
This study focuses on exploring the uniparental genetic lineages of Hungarian-speaking minorities residing in rural villages of Baranja (Croatia) and the Zobor region (Slovakia). We aimed to identify ancestral lineages by examining genetic markers distributed across the entire mitogenome and on the Y-chromosome. This allowed us to discern disparities in regional genetic structures within these communities.
View Article and Find Full Text PDFLeukemic conversion involving mutations of type 1 -mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.
Front Oncol
September 2023
De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Somatic frameshift mutations in exon 9 of calreticulin () gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Type 1/type 1-like mutations particularly confer a favorable prognostic and survival advantage in PMF patients. We report an unusual case of PMF incidentally diagnosed in a 68-year-old woman known with hepatitis C virus (HCV) cirrhosis who developed a progressive painful splenomegaly, without anomalies in blood cell counts.
View Article and Find Full Text PDFCommon and distinct patterns of acquired uniparental disomy and homozygous deletions between lung squamous cell carcinomas and lung adenocarcinoma.
Neoplasia
November 2023
Department of Medicine, Institute of Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Acquired uniparental disomy (aUPD) is a chromosomal alteration that can lead to homozygosity of existing aberrations. We used data from The Cancer Genome Atlas SNP-based arrays to identify distinct and common aUPD profiles in lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC). Moreover, we tested relevance of aUPD for homozygous deletion (HMD), overall survival (OS), and recurrence-free survival (RFS).
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