Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
, 2016 Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources
Nuclear DNA contents, rDNAs, and karyotype evolution in subgenus Vicia: III. The heterogeneous section Hypechusa. [PDF]
, 2006 : Nuclear DNA contents, automated karyotype analyses, and sequences of internal transcribed spacers from ribosomal genes have been determined in the species belonging to section Hypechusa of the sub-genus Vicia.
AMBROSIO M +5 more
core
A case of intersex occurrence in Steindachneridion parahybae (Steindachner, 1877) (Siluriformes: Pimelodidae) under captivity condition: A cytogenetic and morphological study [PDF]
, 2016 Poco se sabe sobre la biología reproductiva de Steindachneridion parahybae , una especie de teleósteo gonocorístico en peligro de extinción que habita la cuenca del río Paraíba do Sul y en éste trabajo se describe por primera vez la aparición de ...
Caneppele, Danilo +4 more
core +2 more sources
Karyological Features of the Genus Planorbarius (Gastropoda, Pulmonata, Bulinidae) of the Ukranian Fauna [PDF]
, 2007 The absence of significant distinctions between the species of the genus Planorbarius in the narrow sense (P. corneus, P. banaticus, P. purpura, and P. grandis) has been established. All investigated species had identical chromosomal formulas (2n= 30 m +
Garbar, А. V., Гарбар, Д. А.
core
C-banding, fluorescent staining and NOR location in holokinetic chromosomes of bugs of the Neotropical genus Antiteuchus (Heteroptera: Pentatomidae: Discocephalinae) [PDF]
, 2006 Different cytogenetic techniques including C-banding, base-specific fluorochromes and silver nitrate staining were used to compare the karyotypes of three species of bugs, representatives of the Neotropical genus Antiteuchus, namely A.
de Souza, Maria José, Lanzone, Cecilia
core +1 more source
Management challenges of disorders of sex development- Case Series
Rwanda Medical Journal, 2022 INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We reviewed
B. Tuyishimire +7 more
doaj +1 more source
Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
core +3 more sources
Duplex DNA from Sites of Helicase-Polymerase Uncoupling Links Non-B DNA Structure Formation to Replicative Stress [PDF]
, 2020 BACKGROUND: Replication impediments can produce helicase-polymerase uncoupling allowing lagging strand synthesis to continue for as much as 6 kb from the site of the impediment.
Abdelhamid, Mahmoud A S +9 more
core +2 more sources
A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]
, 1993 The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi +31 more
core +1 more source
The European Zoological Journal, 2021 The land snail taxon Helix straminea Briganti, 1825 has been reintroduced as a valid species in 2014. We provide here a comprehensive account of its taxonomy, distribution, anatomy, phylogeny and karyology in Italy. An overview of the historical views on
A. Petraccioli +10 more
doaj +1 more source