Results 81 to 90 of about 62,351 (250)

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Supplementary Figure 8 from Complex Tumor Genomes Inferred from Single Circulating Tumor Cells by Array-CGH and Next-Generation Sequencing [PDF]

, 2023
Ellen Heitzer, Martina Auer, Christin Gasch, Martin Pichler, Peter Ulz, Eva Maria Hoffmann, Sigurd Lax, Julie Waldispuehl‐Geigl, Oliver Mauermann, Carolin Lackner, Gerald Höfler, Florian Eisner, Heinz Sill, Hellmut Samonigg, Klaus Pantel, Sabine Riethdorf, Thomas Bauernhofer, Jochen B. Geigl, Michael R. Speicher   +18 more
openalex   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

DNA Quality Assessment for Array CGH by Isothermal Whole Genome Amplification

Cellular Oncology, 2007
Background: Array Comparative Genomic Hybridization (array CGH) is increasingly applied on DNA obtained from formalin-fixed paraffin-embedded (FFPE) tissue, but in a proportion of cases this type of DNA is unsuitable.
Tineke E. Buffart, Marianne Tijssen, Thijs Krugers, Beatriz Carvalho, Serge J. Smeets, Ruud H. Brakenhoff, Heike Grabsch, Gerrit A. Meijer, Henry B. Sadowski, Bauke Ylstra   +9 more
doaj   +1 more source

Intravascular Lithotripsy to Facilitate Extraction of Very Old Cardiac Implantable Electronic Devices Leads

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background One of the challenges encountered when extracting transvenous leads with long dwell times is the presence of dense calcifications encasing the leads. This is the most likely reason for failure to advance a laser extraction sheath.
Jamie Kowal, Travis Richardson, George H. Crossley   +2 more
wiley   +1 more source

Validation and Test–Retest Reliability of the Cervicogenic Headache Severity Questionnaire (CeH-SeQ): A Patient-Reported Assessment Tool [PDF]

EPJ Web of Conferences
Cervicogenic headache (CGH) represents a secondary headache disorder arising from cervical spine dysfunction, characterized by neck pain radiating to the head.
Choksi Prachi, Khant Ankurkumar Premjibhai   +1 more
doaj   +1 more source

A wild‐caught rosy barb Pethia conchonius in a British urban pond underscores the need to prevent aquarium releases

Journal of Fish Biology, EarlyView.
Abstract A specimen of rosy barb Pethia conchonius of 51 mm standard length, encountered in an urban pond in London, is reported. This small cyprinid is native to lakes and streams in subtropical regions of southern Asia and is commonly sold as an ornamental fish.
Peter J. Barry, Phil I. Davison, Luke Pearson, Gordon H. Copp   +3 more
wiley   +1 more source

Influence of Rare Earth Elements on Prebiotic Reaction Networks Resembling the Biologically Relevant Krebs Cycle

Angewandte Chemie, Volume 138, Issue 4, 22 January 2026.
Rare earth elements can act as mediators in a prebiotic reaction network, producing various intermediates of the citric acid cycle starting from glyoxylate and pyruvate. The ionic radius and the resulting variation in Lewis acidity has a significant influence on the observed product scope.
Jonathan Gutenthaler‐Tietze, Carolina G. Heßler, Lena J. Daumann   +2 more
wiley   +2 more sources

Holography in CGHS supergravity

, 2022
20 pages, v2: references, clarifications added, correction of typos and the boundary action made, v3: The integrability conditions (4.28) are made off-shell, v4: The published version; clarification about the Eucl. theory added, subsec.
Afshar, Hamid, Aghamir, Narges
openaire   +2 more sources

The Outcome of Intracellular Selenomonas sputigena and its Impact on Gingival Keratinocytes

Molecular Oral Microbiology, EarlyView.
ABSTRACT Selenomonas sputigena is an understudied oral pathobiont associated with periodontitis and dental caries. We recently demonstrated that S. sputigena binds to gingival epithelial cells (GECs), where afterwards the bacterium causes robust in vitro pro‐inflammatory cytokine production and migration of monocytes and neutrophils.
Colin G. Hawkes, Travis J. Chiarelli, Doaa N. Abdallah, Grayson Way, Huiping Zhou, Jason A. Carlyon, Daniel P. Miller   +6 more
wiley   +1 more source