Results 181 to 190 of about 51,568 (249)

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

A cytogenetic analysis with chromosome painting in typical antbirds (Passeriformes, Thamnophilidae) and an inference on chromosome evolution in Passeriformes. [PDF]

Chromosome Res
Ribas TFA, Nagamachi CY, Pinheiro ML, O Brien PCM, Smith MAF, Yang F, Aleixo A, Pieczarka JC.   +7 more
europepmc   +1 more source

Genome‐scale insights into metabolic streamlining and photosynthetic energy balance in the extremophile green alga Picocystis salinarum (Picocystophyceae, Chlorophyta)

Journal of Phycology, EarlyView.
Abstract Picocystis salinarum is an early‐diverging chlorophyte and the sole described member of the Picocystophyceae, frequently dominating hypersaline and alkaline lakes despite extreme physicochemical constraints. To elucidate the genomic foundations of its ecological success, we generated a fully annotated, chromosome‐scale nuclear genome assembly ...
Claude Lemieux, Christian Otis, Monique Turmel   +2 more
wiley   +1 more source

Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia. [PDF]

Genes Chromosomes Cancer
Nagai J, Yoshida S, Teshima T, Onozawa M.   +3 more
europepmc   +1 more source

Epigenetic Regulation in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
The aim of this narrative literature review was to identify epigenetic marks associated with periodontitis and to place them in a biological context. The literature was reviewed based on pre‐defined criteria. Cell type specific chromatin and mRNA modifications were included.
Henrik Dommisch, Arne Sönke Schäfer, Denica Kuzmanova, Dominique S. Michaud   +3 more
wiley   +1 more source

Structural genome variation drives adaptation of the xylose-fermenting yeast Scheffersomyces stipitis to lignocellulosic hydrolysates. [PDF]

Chromosome Res
Vega-Estévez S, Armitage A, Dien BS, Slininger PJ, Buscaino A.   +4 more
europepmc   +1 more source

The Greenland–Scotland Ridge in a Changing Ocean: Time to Act?

Marine Ecology, EarlyView.
ABSTRACT The Greenland–Scotland Ridge is a submarine mountain that rises up to 500 m below the sea surface and extends from the east coast of Greenland to the continental shelf of Iceland and across the Faroe Islands to Scotland. The ridge not only separates deeper ocean basins on either side, that is, the North Atlantic and Arctic oceans, but also ...
Christophe Pampoulie, Saskia Brix, Haseeb S. Randhawa   +2 more
wiley   +1 more source

The Fragile Site Landscape of Induced Pluripotent Stem Cells: Hierarchy, Variability, Tissue Specificity, and Links to Culture-Acquired Rearrangements. [PDF]

Cells
Pozhitnova VO, Zheglo D, Kislova AV, Kiselev DS, Voronina ES.   +4 more
europepmc   +1 more source

Comparative genomics reveals lineage‐associated structural variation and diversification in a barley fungal pathogen

New Phytologist, EarlyView.
Genome‐wide copy‐number variation landscape highlights structural divergence across Puccinia hordei isolates and potentially links Cyp51 amplification to fungicide insensitivity. Summary Leaf rust, caused by Puccinia hordei, is a major barley disease worldwide.
Xiaohui Yu, Mumta Chhetri, Mafruha Hasan, Thomas H. Roberts, Peng Zhang, Robert F. Park, Yi Ding   +6 more
wiley   +1 more source

Characterization of oat chromosome rearrangements in advanced breeding lines and implications for genetic improvement. [PDF]

Theor Appl Genet
Oliveira G, Bekele W, Dariva FD, Bazzer S, Fiedler J, Nandety RS, Jannink JL, Caffe M.   +7 more
europepmc   +1 more source