Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Chromosomal Gains and Losses in Uveal Melanomas Detected by Comparative Genomic Hybridization [PDF]
, 1994 Eleven uveal melanomas were analyzed using comparative genomic hybridization (CGH). The most abundant genetic changes were loss of chromosome 3, overrepresentation of 6p, loss of 6q, and multiplication of 8q.
Becher, Reinhard +7 more
core
Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart +6 more
wiley +1 more source
Implementation of the Fluorescent in Situ Hybridization technique in the Faculty of Medicine, UdelaR
Anales de la Facultad de Medicina, 2017 The Cytogenetic Laboratory of the Faculty of Medicine processes, on average, 300 annual samples of public and private healthcare centers by conventional cytogenetics.
Andrea Cairus +5 more
doaj
Chromosomal and histological evidences of infertility in F2 and F2 backcross. Hybrid generations of Clarias anguillaris and Heterobranchus longifilis [PDF]
, 2001 Male meiosis was studied in 9 different mating combinations in parental, first, second and backcross generation hybrids of Clarias anguillaris and Heterobranchus longifilis. 27 bivalents were recorded in metaphase I for seven mating combinations.
Aluko, P.O.
core
CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 448-459, March 2025.Abstract Myelodysplastic syndromes (MDS) represent a group of bone marrow disorders involving cytopenias, hypercellular bone marrow, and dysplastic hematopoietic progenitors. MDS remains a challenge to treat due to the complex interplay between disease‐induced and treatment‐related cytopenias.
Neha Thakre +5 more
wiley +1 more source
Clinical Genetics in Britain: Origins and development [PDF]
, 2010 Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core
Typifications in the tribe Browallieae (Cestroideae: Solanaceae)
TAXON, EarlyView.Abstract The tribe Browallieae is a monophyletic group comprising Browallia and Streptosolen. These genera are of significant interest in the horticulture industry due to their ornamental potential. Despite their clear placement in Solanaceae, the tribe presents several taxonomic, phylogenetic, and nomenclatural challenges.
David Hoyos, Sandra Knapp, Rocío Deanna
wiley +1 more source
Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source