Results 91 to 100 of about 78,073 (260)

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

The German ONKOPEDIA Guideline for Myelofibrosis in 2025—Recommendations of an MPN Expert Panel of the German Society for Hematology and Oncology (DGHO)

International Journal of Cancer, EarlyView.
ABSTRACT The recently published ONKOPEDIA guideline on myelofibrosis, issued under the auspices of the German Society of Hematology and Oncology (DGHO), provides an updated, evidence‐based framework for the diagnosis and management of this rare, chronic myeloproliferative neoplasm.
Martin Griesshammer, Haifa Kathrin Al‐Ali, Gabriela M. Baerlocher, Konstanze Döhner, Steffen Koschmieder, Nicolaus Kröger, Petro E. Petrides, Dominik Wolf, Florian H. Heidel   +8 more
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Convergent Patterns of Karyotype Evolution Underlying Karyotype Uniformity in Conifers

Advanced Science
AbstractKaryotype diversity plays an important role in speciation and diversification. However, gymnosperms, particularly conifers, exhibit remarkable karyotype uniformity. To explore the evolutionary processes shaping karyotypes in gymnosperms, the karyotype evolutionary history is reconstructed through comparative genomic analyses.
Ren‐Gang Zhang, Hui Liu, Hong‐Yun Shang, Heng Shu, De‐Tuan Liu, Hao Yang, Kai‐Hua Jia, Xiao‐Quan Wang, Wei‐Bang Sun, Wei Zhao, Yongpeng Ma   +10 more
openaire   +3 more sources

Two near‐complete assemblies reveal R‐subgenome structural and centromeric divergence associated with reproductive isolation in hexaploid triticale

iMeta, EarlyView.
We present two near‐complete triticale genome assemblies and perform pan‐centromere analyses across >200 haplotypes from parental species, synthetic allopolyploids, cultivars, and 337 resequenced accessions, revealing a shared chromatin framework underlying functional centromeres in all three subgenomes, where wheat‐ and rye‐derived CENH3 co‐occupy ...
Yang Liu, Wanna He, Chunhui Wang, Congyang Yi, Tianxin Guo, Congle Zhu, Qian Liu, Fangpu Han   +7 more
wiley   +1 more source

Metabolic feature profiling and metabolic vulnerability in acute lymphoblastic leukemia

Interdisciplinary Medicine, EarlyView.
For the first time, our study develops a novel metabolic classification and subtyping program, metabolic reprogramming‐based classifier for acute lymphoblastic leukemia, using internal PDT‐ALL‐2016 and external cohorts, which dissects metabolic profiling, clinical outcome, and therapeutic vulnerability for precision metabolic intervention in ALL ...
Xiaojie Liang, Zihong Cai, Bingqing Tang, Zicong Huang, Baiwei Luo, Bingyu Lin, Yunong Yang, Zhihao Jin, Xiaoqing Li, Xiuli Xu, Yeling Deng, Chaoran Lin, Liang Wang, Hongsheng Zhou   +13 more
wiley   +1 more source

karyotype

Citation: 'karyotype' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10872 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +2 more sources

Reconceptualizing Aplastic Anemia—Seed, Worm, Soil

Journal of Clinical Laboratory Analysis, EarlyView.
Aplastic anemia (AA) encompasses a group of hematological syndromes often misdiagnosed, resulting in a decrease in the overall blood cell count and representing a form of bone marrow failure. We reinterpret AA based on the “seed, worm, and soil” doctrine.
Xintong Xu, Zining Wang, Jiaming Hu, Chunyan Liu, Rong Fu   +4 more
wiley   +1 more source

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source