Genetic characterisation of adult primary pleomorphic uterine rhabdomyosarcoma and comparison with uterine carcinosarcoma
Sign Up to like & getrecommendations! Published in 2021 at "Histopathology"
DOI: 10.1111/his.14346
Abstract: To characterise the genetic alterations in adult primary uterine rhabdomyosarcomas (uRMSs) and to investigate whether these tumours are genetically distinct from uterine carcinosarcomas (UCSs). read more here.
Keywords: pleomorphic uterine; adult primary; uterine rhabdomyosarcoma; characterisation adult ... See more keywords
Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2018-316634
Abstract: Objectives The 22q11.2 deletion syndrome is considered the most frequent chromosomal microdeletion syndrome in humans and the second leading chromosomal cause of congenital heart disease (CHD). We aimed to identify the prevalence and the detailed… read more here.
Keywords: patients chd; heart disease; prevalence; characterisation 22q11 ... See more keywords
Genetic characterisation of a novel reptarenavirus detected in a dead pet red-tailed boa (Boa constrictor).
Sign Up to like & getrecommendations! Published in 2022 at "Acta veterinaria Hungarica"
DOI: 10.1556/004.2022.00001
Abstract: Boid inclusion body disease (BIBD) is a severe and transmissible disease of snakes worldwide. Reptarenaviruses have been identified as the aetiological agents of BIBD. We determined the almost complete genome sequence of an arenavirus detected… read more here.
Keywords: tailed boa; boa; red tailed; genetic characterisation ... See more keywords
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12112893
Abstract: Cystic fibrosis (CF) is the most common life-limiting genetic disorder in European descent populations. It is caused by pathogenic variants in the CFTR gene, and inheritance is autosomal recessive. This study provides an up-to-date, comprehensive… read more here.
Keywords: screening programme; clinical genetic; genetic characterisation; fibrosis ... See more keywords