Results 191 to 200 of about 63,140 (263)

Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation. [PDF]

Genome Res
Lee SN, Banda EC, Qiao L, Thompson SL, Singh K, Hagenson RA, Davoli T, Pinter SF, Sheltzer JM.   +8 more
europepmc   +1 more source

Hybrid grading systems improve progression risk stratification in non‐invasive papillary urothelial carcinoma and support a histomorphological continuum of disease progression

Histopathology, EarlyView.
Hybrid grading systems significantly improve progression‐risk stratification in non‐invasive papillary urothelial carcinoma compared with the WHO 2004/2016 binary classification, with most benefit achieved by a Hybrid 3‐Tier framework. These findings support the existence of a histomorphological continuum of progression risk within the conventional ...
Jane K Nguyen, Marcello P Toscano, Jianbo Li, Sean R Williamson, Christopher G Przybycin, Chia‐Sui Kao, Jonathan L Myles, Kristýna Pivovarčíková, Marián Švajdler, Marek Brousil, Mohamed Eltemamy, Laura Bukavina, Venkatesh Krishnamurthi, Christopher Weight, Rebecca A Campbell, Nima Almassi, Reza Alaghehbandan   +16 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline. [PDF]

Am J Med Genet A
Helle K, Bengtsson JD, Gandhi M, Grochowski CM, Lun MY, Sudhir N, Jhangiani SN, Sedlazeck FJ, Lalani SR, Hanchard NA, Carvalho CMB.   +10 more
europepmc   +1 more source

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk   +10 more
wiley   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Novel Pattern of Nuclear Staining With ROS1 Immunohistochemistry: A Case Report. [PDF]

Case Rep Pulmonol
Wilcock DM, Sirohi D, Moore K, Grossmann AH, Deftereos G.   +4 more
europepmc   +1 more source

Optical genome mapping reveals a recurrent translocation, t(14;16), in T/myeloid mixed phenotype acute leukemia: report of two cases. [PDF]

Mol Cytogenet
Lum J, Anderson-Calleja J, Van Dine K, Manion E, Xiao H, Perry AM, Boyer D, Shao L.   +7 more
europepmc   +1 more source

Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration. [PDF]

Mol Ecol
Baran NM, Jeong H, Maney DL, Yi SV.
europepmc   +1 more source

Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion. [PDF]

Mol Cytogenet
Kawamura R, Shichiri Y, Suzuki H, Murase Y, Naru Y, Hara T, Tsuboi A, Satano H, Sugihara E, Kurahashi H.   +9 more
europepmc   +1 more source

The rearrangement partner and the presence of <i>MYC</i> mutations determine the outcome of patients with <i>MYC</i> and <i>BCL6</i> rearrangements. [PDF]

Hemasphere
Stengel A, Lenk M, Kern W, Walter W.
europepmc   +1 more source