Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]
, 2013 Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst +6 more
core +2 more sources
The association between IVF and chromosomal abnormalities compared to spontaneous conception
Journal of Biochemical and Clinical Genetics, 2021 In vitro fertilization (IVF) is a process by which an egg is extracted by needle aspiration and then combined with a sperm so that fertilization can occur outside the body. Genetic defects, such as chromosomal abnormalities, are considered rare among the
Sawsan Alharthi +5 more
doaj +1 more source
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]
PLoS ONE, 2017 We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom +18 more
doaj +1 more source
Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia [PDF]
, 2017 Telomeres are protective repeats of TTAGGG sequences located at the end of human chromosomes. They are essential to maintain chromosomal integrity and genome stability.
Bezares, Raimundo F. +6 more
core +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy
Taiwanese Journal of Obstetrics & Gynecology, 2007 Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
doaj +1 more source
Placental mosaicism and complications of pregnancy
Медицинский совет, 2021 Timely diagnosis of chromosomal aneuploidies plays an important role in determining the proper approach to the management of pregnancy. This article outlines the current ideas on the likelihood of occurrence of obstetric pathology, depending on the ...
A. A. Sivik, N. K. Tetruashvili
doaj +1 more source
MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas [PDF]
, 2006 In view of the certain anatomic site-dependent frequency of chromosomal translocations involved in extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) pathogenesis, 17 salivary gland MALT lymphoma cases were ...
Isaacson PG +8 more
core +1 more source
Cytometry Part A, EarlyView.ABSTRACT Myelofibrosis is a myeloproliferative neoplasm with potential to transform to acute myeloid leukemia. This evolution is unpredictable and current assays lack the sensitivity and applicability needed to predict this transformation. While population‐level data utilizing comprehensive genomic profiling can identify subgroups at higher risk of ...
Ruby M. Hamilton +8 more
wiley +1 more source
Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome [PDF]
, 2009 Down syndrome (DS) is a genetic disorder arising from the presence of a third copy of human chromosome 21 (Hsa21). Recently, O’Doherty et al. [An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309 (2005) 2033–
Bliss, T.V.P. +7 more
core +3 more sources