Results 131 to 140 of about 4,160,939 (294)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sex chromosome identification and genome curation from a single individual with SCINKD. [PDF]

Mol Biol Evol
Pinto BJ, Gable SM, Keating SE, Smith CH, Gamble T, Nielsen SV, Wilson MA.   +6 more
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Unambiguous chromosome identification by multicolour fluorescence in situ hybridisation reveals the genome organisation and evolution of sheepgrass (Leymus chinensis). [PDF]

BMC Plant Biol
Sun M, Hu S, Li T, Lv N, Han J, Li Y, Lu J, Wang Z, He T, Sun M, Qi Z, Xiong Z, Wu L.   +12 more
europepmc   +1 more source

Chromosome painting using repetitive DNA sequences as probes for somatic chromosome identification in maize.

Proceedings of the National Academy of Sciences of the United States of America, 2004
A. Kato, J. Lamb, J. Birchler
semanticscholar   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

A cost-effective oligo-based barcode system for chromosome identification in longan and lychee. [PDF]

Hortic Res
Yu Z, Qi Y, Wei Y, Zhuang G, Li Y, Wang B, Akbar S, Xu Y, Hua X, Xu Q, Deng Z, Zhang J, Huang Y, Yu F, Zhou J.   +14 more
europepmc   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

ND-FISH with New Oligo Probes for Chromosome Identification of Cichorium intybus Revealing Karyotypic Variation and Divergence of Asteraceae Species. [PDF]

Plants (Basel)
Chen M, Jiang C, Huang D, Zheng Z, Yang W, Li G, Fu C, Liao H, Long W, Yang Z, Yang Y.   +10 more
europepmc   +1 more source

Oligo-FISH barcode chromosome identification system provides novel insights into the natural chromosome aberrations propensity in the autotetraploid cultivated alfalfa. [PDF]

Hortic Res
Meng Z, Zheng Q, Wang W, Zhu Y, Li Y, Dong F, Luo W, Zhang Z, Wang F, Shen H, Xie Q, Li H.   +11 more
europepmc   +1 more source