Results 161 to 170 of about 76,927 (296)

Chromosomal rearrangements and segmental deletions contribute to gene loss in squamates. [PDF]

BMC Biol
Salve BG, Sonal H, Vijay N.
europepmc   +1 more source

DNA polymerases in precise and predictable CRISPR/Cas9-mediated chromosomal rearrangements. [PDF]

BMC Biol, 2023
Mehryar MM, Shi X, Li J, Wu Q.
europepmc   +1 more source

Chromosomal Rearrangements and Protein Structure*

Cold Spring Harbor Symposia on Quantitative Biology, 1964
openaire   +3 more sources

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, EarlyView.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source

Genome stabilization in the neotetraploid wasabi (Eutrema japonicum): subgenome dominance and extensive chromosomal rearrangements. [PDF]

BMC Plant Biol
Jeon D, Lee S, Choi S, Paterson AH, Kim C.   +4 more
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Chromosomal rearrangements in mosquitoes: from micro- to macroevolution. [PDF]

Curr Opin Insect Sci
Sharakhova MV, Sharakhov IV.
europepmc   +1 more source

Nascent evolution of recombination rate differences as a consequence of chromosomal rearrangements. [PDF]

PLoS Genet, 2023
Näsvall K, Boman J, Höök L, Vila R, Wiklund C, Backström N.   +5 more
europepmc   +1 more source

Hemoglobin Lepore‐Boston‐Washington: A Rare Cause of Unmeasurable HbA1c and Diagnostic Challenge in Diabetes

Journal of Clinical Laboratory Analysis, EarlyView.
Filippo Russo, Silvia Trombetti, Maria Rosaria Storino, Raffaele Sessa, Carmela De Felice, Giuseppe Schiavone, Michela Grosso   +6 more
wiley   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source