Results 161 to 170 of about 4,048 (215)

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

Brain Pathology, Volume 36, Issue 4, July 2026.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat, Mary Bah, Farah Sassi, Noémie Pucelle, Charlotte Berthaud, Marion Mandoula, Zeina Dababou, Noah Carnes, Leïla Brissez, Lauren Hasty, Euphrasie Servant, Alice Métais, Pascale Varlet   +12 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, Volume 36, Issue 4, July 2026.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, Volume 36, Issue 4, July 2026.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Development and Validation of a Cross‐Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome

Journal of Intellectual Disability Research, Volume 70, Issue 7, Page 758-768, July 2026.
ABSTRACT Background Advances in genomics have resulted in a rapid expansion of the number of known rare genetic disorders (RGDs). However, the low frequency of RGDs presents a challenge for accurately describing the phenotypic spectrum of a given disorder. Remote phenotyping strategies are uniquely poised to address this knowledge gap.
R. M. Pollak, E. Sefik, C. Klaiman, M. K. Harner, D. V. Bishop, J. R. Purcell, T. Irving, C. A. Saulnier, S. Pulver, J. F. Cubells, E. F. Walker, M. M. Murphy, J. G. Mulle   +12 more
wiley   +1 more source

Sweet Potato Gene Clusters Control Anthocyanin Biosynthesis and Leaf Morphology

Plant Biotechnology Journal, Volume 24, Issue 7, Page 4500-4527, July 2026.
ABSTRACT Sweet potato (Ipomoea batatas) exhibits diversity in pigmentation and leaf morphology, yet the genetic architecture and regulatory organisation underlying these traits remain poorly resolved, particularly with respect to organ‐specific control.
Dong An, Tiechen Shen, Shiyu Wu, Yanshen Li, Weijuan Fan, Mengxiao Yan, Yinghui Meng, Xinyi Wang, Ximing Xu, Zunfu Lv, Ling Yuan, Jun Yang, Guoquan Lu, Hongxia Wang   +13 more
wiley   +1 more source

Preclinical and Virtual Models of Mucosal Melanoma: Bridging Translational Gaps in a Rare and Lethal Cancer

Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.
Integrated physical and virtual modeling provides a scalable framework to overcome sample scarcity, recapitulate mucosal melanoma biology, and accelerate translational discovery toward precision medicine. ABSTRACT Mucosal melanoma (MM) is a rare and lethal subtype of melanoma, disproportionately affecting Asian populations and exhibiting distinct ...
Xiangjie Jin, Yuhan Zhang, Yuantai Zhu, Zhiyuan Zhang, Chaoji Shi   +4 more
wiley   +1 more source

Copy Number Analysis in Congenital Nevi: Concordance and Diagnostic Limitations of aCGH, sWGS, and Methylation Sequencing

Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.
Distinguishing proliferative nodules from melanoma in congenital melanocytic nevi remains challenging. While aCGH, sWGS, and methylation sequencing show high concordance for broad CNAs, higher‐resolution methods detect additional focal alterations that can lead to discordant classifications.
Anton Karelin, Ines B. Brecht, Michaela Pogoda, German Demidov, Michael Abele, Dominik T. Schneider, Daniel Aldea, Heather C. Etchevers, Susana Puig, Matthias Hahn, Christopher Schroeder, Stephan Forchhammer, on behalf of the MELCAYA consortium   +12 more
wiley   +1 more source