Noninvasive Prenatal Testing of Rare Autosomal Aneuploidies by Semiconductor Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "DNA and cell biology"
DOI: 10.1089/dna.2017.4075
Abstract: Rare autosomal aneuploidies (RAAs) can cause miscarriage or other pregnancy complications and lead to inconsistent results of noninvasive prenatal testing (NIPT), but many NIPT providers have not yet started to provide related services. Our aim… read more here.
Keywords: semiconductor sequencing; raas; autosomal aneuploidies; prenatal testing ... See more keywords
Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0122
Abstract: BACKGROUND Escobar syndrome, a nonlethal variant of multiple pterygium syndromes (MPS), is a rare autosomal recessive disorder characterized by pterygia and multiple joint contractures along with other anomalies. Variants in cholinergic receptor nicotinic gamma subunit… read more here.
Keywords: rare autosomal; pakistani family; family; autosomal recessive ... See more keywords
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.975987
Abstract: Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen… read more here.
Keywords: pregnancy management; cell free; rare autosomal; autosomal aneuploidies ... See more keywords
Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13040580
Abstract: Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the… read more here.
Keywords: noninvasive prenatal; uniparental disomy; rare autosomal; autosomal trisomies ... See more keywords
Fibronectin Glomerulopathy: A Rare Autosomal Dominant Glomerular Disease
Sign Up to like & getrecommendations! Published in 2017 at "Chinese Medical Journal"
DOI: 10.4103/0366-6999.213970
Abstract: A 43‐year‐old female was admitted to the Department of Nephrology at Jinling Hospital (Nanjing, China) in January 2017 complaining of edema for 3 months with urine abnormalities. Her father had renal disease (with no biopsy… read more here.
Keywords: fibronectin glomerulopathy; urinary protein; glomerulopathy rare; disease ... See more keywords