Reproductive Wastage in Recurrent Partial Hydatidiform Mole: A Clinical Dilemma. [PDF]
, 2013 Recurrent partial Hydatidiform mole is an extremely rare clinical entity which represent a part of the gestational trophoblatic neoplasia spectrum. Since the first case was reported by Honore.
Ashmita, D +3 more
core
Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders [PDF]
, 2010 Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases.
A Barbosa-Gonc̀§ +5 more
core +1 more source
Genome Sequence of the Chestnut Blight Fungus Cryphonectria parasitica EP155: A Fundamental Resource for an Archetypical Invasive Plant Pathogen. [PDF]
, 2020 Cryphonectria parasitica is the causal agent of chestnut blight, a fungal disease that almost entirely eliminated mature American chestnut from North America over a 50-year period. Here, we formally report the genome of C. parasitica EP155 using a Sanger
Aerts, Andrea +14 more
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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
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Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons [PDF]
, 2020 Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by the presence of intracellular aggregates of tau protein and neuronal loss leading to cognitive and motor impairment.
Alquezar, Carolina +7 more
core +2 more sources
An Automated System for Chromosome Analysis [PDF]
The design, construction, and testing of a complete system to produce karyotypes and chromosome measurement data from human blood samples, and to provide a basis for statistical analysis of quantitative chromosome measurement data are ...
Castleman, K. R., Melnyk, J. H.
core +1 more source
Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. [PDF]
, 2009 Progress in the management of patients with myelodysplastic syndromes (MDS) has been hampered by the inability to detect cytogenetic abnormalities in 40-60% of cases.
Bueso-Ramos, CE +13 more
core +1 more source
An automated system for chromosome analysis. Volume 1: Goals, system design, and performance [PDF]
The design, construction, and testing of a complete system to produce karyotypes and chromosome measurement data from human blood samples, and a basis for statistical analysis of quantitative chromosome measurement data is described.
Castleman, K. R., Melnyk, J. H.
core +1 more source
Uncovering Proximity of Chromosome Territories using Classical Algebraic Statistics [PDF]
, 2014 Exchange type chromosome aberrations (ETCAs) are rearrangements of the genome that occur when chromosomes break and the resulting fragments rejoin with other fragments from other chromosomes.
Arsuaga, Javier +3 more
core
Chromosome aberration detection with hybridized DNA probes: digital image analysis and slit scan flow cytometry [PDF]
, 1989 D Pinkel +20 more
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