A natural language processing (NLP) approach for optical character recognition (OCR)-resilient extraction, correction, and structuring of karyotype data in oncology clinical notes

Συγγραφείς: Tian Kang, Jessica Munger, Erik T. Mueller, Arpita Saha, Victoria L. Chiou

Πηγή: Journal of Clinical Oncology. 43

Genome Analysis and Reproductive Observations Suggest Allotetraploidy and a Potential Reproduction–Metabolism Association in the Endangered Fish Neolissochilus heterostomus.

Συγγραφείς: Xiao, Tiaoyi, Wu, Zhichao, Li, Dongfang, Qin, Beibei, Tang, Shengguo, Lin, Chengyi, Mao, Kuayun, Yin, Jinwu, Li, Zhihu, Wang, Hongquan, Lv, Zhao

Πηγή: Fishes (MDPI AG); Jun2026, Vol. 11 Issue 6, p350, 26p

Θεματικοί όροι: Polyploidy, Tetraploidy, Human reproduction, Endangered species, Genomics, Comparative genomics, Marine fishes, Metabolism

Γεωγραφικοί όροι: China

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome.

Συγγραφείς: Tirumala, Harini P., Wang, Li, Li, Yan, Bajikar, Sameer S., Anderson, Ashley G., Wang, Wei, Trostle, Alexander J., Zahabiyon, Mahla, Bajic, Aleksandar, Kim, Jean J., Chen, Hu, Liu, Zhandong, Zoghbi, Huda Y.

Πηγή: Science Translational Medicine; 3/4/2026, Vol. 18 Issue 839, p1-13, 13p

Θεματικοί όροι: Alternative RNA splicing, Antisense RNA, Genes, Genetic engineering, Rett syndrome, Neurophysiology, Neural development

[Quantitative processing of results of uniparametric fluorescent flow analysis of human chromosomes].

Μεταγλωττισμένος Τίτλος: Kolichestvennaia obrabotka rezul'tatov odnoparametricheskogo fluorestsentnogo analiza khromosom cheloveka v potoke.

Συγγραφείς: Kravatskiĭ IuV, Poletaev AI

Πηγή: Molekuliarnaia biologiia [Mol Biol (Mosk)] 1994 Jul-Aug; Vol. 28 (4), pp. 887-99.

Τύπος έκδοσης: English Abstract; Journal Article

Στοιχεία περιοδικού: Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0105454 Publication Model: Print Cited Medium: Print ISSN: 0026-8984 (Print) Linking ISSN: 00268984 NLM ISO Abbreviation: Mol Biol (Mosk) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Chromosomes, Human*, Flow Cytometry/*methods, Algorithms ; Chromosome Aberrations ; Fourier Analysis ; Humans ; Karyotyping ; Microcomputers

Multimodal AI reading of genetic complexity and residual marrow composition in acute promyelocytic leukemia.

Συγγραφείς: Gao, Minjie, Ouyang, Guifang, Liu, Yangguang, Chen, Shikun

Πηγή: Frontiers in Immunology; 2026, p1-23, 23p

Θεματικοί όροι: Acute promyelocytic leukemia, Hematopoiesis, Artificial intelligence, Fluorescence in situ hybridization, Cytogenetics, Genetic variation, Cell morphology

Cytogenetic Characterization of the Yak (Bos grunniens) Prometaphase Chromosomes and Comparison with Cattle (Bos taurus).

Συγγραφείς: Pauciullo, Alfredo, Nicodemo, Davide, Letaief, Neyrouz, Černohorská, Halina, Kubičková, Svatava, Vozdová, Miluše, Parma, Pietro, Iannuzzi, Leopoldo, Cosenza, Gianfranco

Πηγή: Genes; Aug2026, Vol. 17 Issue 8, p943, 16p

Θεματικοί όροι: Yak, Cattle, Male sterility in plants, Comparative genomics, Cytogenetics, Chromosome banding

Pattern recognition in lymphoid malignancies using CytoGPS and Mercator.

Συγγραφείς: Abrams, Zachary B., Tally, Dwayne G., Zhang, Lin, Coombes, Caitlin E., Payne, Philip R. O., Abruzzo, Lynne V., Coombes, Kevin R.

Πηγή: BMC Bioinformatics; 3/1/2021, Vol. 22 Issue 1, p1-12, 12p

Θεματικοί όροι: Pattern recognition systems, Multidimensional databases, Karyotypes, Genetics, Leukemia, Cancer treatment

[Quantitative processing of results of uniparametric fluorescent flow analysis of human chromosomes]

Συγγραφείς: Iu V, Kravatskiĭ, A I, Poletaev

Πηγή: Molekuliarnaia biologiia. 28(4)

Θεματικοί όροι: 0301 basic medicine, Chromosome Aberrations, 0303 health sciences, 03 medical and health sciences, Fourier Analysis, Microcomputers, Karyotyping, Chromosomes, Human, Humans, Flow Cytometry, Algorithms

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/7990817

Karyotyping software with abnormalities detection

Συγγραφείς: Pascual, Lester A., Perez, Ramon Alejandro R., Ribleza, Ulyssis G., Tabuena, Conrado C., III

Πηγή: Bachelor's Theses

Θεματικοί όροι: Human genetics--Data processing, Human chromosomes--Data processing, Chromosomes-- Data processing, Karyotypes--Data processing, Genetics--Data processing, Engineering, edu, manag

Relation: https://animorepository.dlsu.edu.ph/etd_bachelors/14278

Διαθεσιμότητα: https://animorepository.dlsu.edu.ph/etd_bachelors/14278

Integrative morphological, cytogenetic and molecular characterization of the Andean climbing catfish Astroblepus mindoensis (Regan, 1916) (Siluriformes:Astroblepidae).

Συγγραφείς: Nirchio, Mauro, Oliveira, Claudio, de Bello Cioffi, Marcelo, Sassi, Francisco M. C., Rizzi, Francisco Provenzano, Benavides, Santiago Wladimir Núñez, Berrones, Alison Jazmín Calderón, Romero, Juan Francisco Rivadeneira, Deon, Geize Aparecida, Kuranaka, Mariana, Valdiviezo‐Rivera, Jonathan Santiago, Carrión Olmedo, Julio C., Rossi, Anna Rita

Πηγή: Journal of Fish Biology; Feb2025, Vol. 106 Issue 2, p292-304, 13p

Θεματικοί όροι: Cytogenetics, Morphology, Species, Endemic fishes, Biological classification, Genetic sex determination, DNA sequencing

Γεωγραφικοί όροι: Ecuador

Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants.

Συγγραφείς: Korobeinikova, Anna V., Petriaikina, Ekaterina S., Tychinin, Dmitry I., Yudin, Vladimir S., Bulaeva, Naida I., Gyulmamedova, Sayaly M., Khugaev, Georgy A., Sukhacheva, Tatiana V., Snigir, Ekaterina A., Mitrofanov, Sergey I., Rumyantseva, Antonina M., Svetlichnyy, Dmitry V., Yudin, Sergey M., Golukhova, Elena Z., Skvortsova, Veronika I.

Πηγή: Frontiers in Cardiovascular Medicine; 2026, p1-12, 12p

DeepKaryo-Check: a two-stage automated screening framework for chromosomal numerical and structural abnormalities in clinical karyotype analysis.

Συγγραφείς: Li, Wenjing, Liang, Xiaoyan, Yu, Hongjian, Sun, Liang

Πηγή: Frontiers in Cell & Developmental Biology; 2026, p1-17, 17p

Θεματικοί όροι: Karyotypes, Cytogenetics, Chromosomal rearrangement, Deep learning, Medical screening, Machine learning, Chromosome abnormalities

Dosage compensation defects due to roX RNA loss are rescued by recalibration of X/autosome stoichiometry.

Συγγραφείς: Gkountromichos, Fotios, Yankson, George, Jayakrishnan, Muhunden, Campos Sparr, Aline, Müller, Marisa, Heun, Patrick, Becker, Peter B

Πηγή: Nucleic Acids Research; 7/8/2026, Vol. 54 Issue 12, p1-21, 21p

Genetic and Clinical Features in TP53‐Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on Next‐Generation Sequencing Data.

Συγγραφείς: Cheng, Yanming, Liu, Lixia, Gao, Yu, Wang, Yifei, Zhu, Wei, Chen, Hong, Qin, Jiayue, Zhang, Yudi

Πηγή: Cancer Reports; Jun2026, Vol. 9 Issue 6, p1-11, 11p

Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study.

Συγγραφείς: Zhang, Yaqin, Bai, Zongkai, Li, Rui, Yang, Han, Wang, Jinfeng, Chen, Yiying, Jin, Xiaoye

Πηγή: Genetics Research; 5/17/2026, Vol. 2026, p1-10, 10p

Θεματικοί όροι: Chromosome abnormalities, Chromosomes, Age groups, Chromosome banding, Disease prevalence, Demographic characteristics, Chromosomal rearrangement

The Nuclear and Mitochondrial Genomes of the Lined Rockskipper, Istiblennius lineatus (Teleostei: Blenniidae).

Συγγραφείς: Valencia-Cárdenas, Víctor M, Kulikov, Nikita, Contreras-Martín, Raúl, Ruiz-Ruano, Francisco J, Hamadou, Alexander Ben, Greve, Carola, Estekani, Sanaz, Vaz, Diego F B, Ord, Terry J, Irisarri, Iker

Πηγή: Genome Biology & Evolution; May2026, Vol. 18 Issue 5, p1-8, 8p

Θεματικοί όροι: Nuclear DNA, Mitochondrial DNA, Marine fishes, DNA sequencing, Gene mapping

Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome.

Συγγραφείς: Kaya, Gökhan, Alavanda, Ceren

Πηγή: Skin Research & Technology; Oct2024, Vol. 30 Issue 10, p1-15, 15p

Θεματικοί όροι: People with Down syndrome, Down syndrome, Age distribution, Age differences, Tooth eruption

The Bunocephalus coracoideus species complex (Siluriformes, Aspredinidae). Signs of a speciation process through chromosomal, genetic and ecological diversity

Συγγραφείς: Ferreira, Milena, Garcia, Caroline, Matoso, D. A., Jesus, Isac Silva de, Cioffi, Marcelo de Bello, Bertollo, Luiz Antônio Carlos, Zuanon, Jansen, Feldberg, Eliana

Θεματικοί όροι: Dna 18s, Ribosome Dna, Rna 5s, Biodiversity, Bunocephalus Coracoideus, Catfish, Chromosome Analysis, Cytogenetics, Dna Barcoding, Dna Denaturation, Dna Sequence, Evolution, In Situ Hybridization, Fluorescence, Gene Amplification, Genetic Variability, Image Processing, Kidney Cell, Nonhuman, Phylogeny, Polymerase Chain Reaction, Testis

Περιγραφή αρχείου: application/pdf

Relation: Volume 8, Número SEP; https://repositorio.inpa.gov.br/handle/1/15711

Διαθεσιμότητα: https://repositorio.inpa.gov.br/handle/1/15711
https://doi.org/10.3389/fgene.2017.00120

Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

Συγγραφείς: DONG WU, HUI ZHANG, QIAOFANG HOU, HONGDAN WANG, TAO WANG, SHIXIU LIAO

Πηγή: Molecular Medicine Reports; Nov2017, Vol. 16 Issue 5, p6222-6227, 6p, 1 Chart, 2 Graphs

Θεματικοί όροι: Chromosomal translocation, Maternal & infant welfare, Trisomy, Phenotypes, Cytogenetics, Array processing, Clinical trials

Uncovering mitotic ultrastructure in the native hair follicle using volume electron microscopy.

Συγγραφείς: Jadav, Nickhil, Velamoor, Sailakshmi, Hazelton, Niki, Reader, Karen, Harland, Duane, Bostina, Mihnea

Πηγή: Journal of Cell Science; Feb2026, Vol. 139 Issue 4, p1-11, 11p

Θεματικοί όροι: Hair follicles, Electron microscopy, Progenitor cells, Chromosome analysis, Hair growth, Mitosis, Ultrastructure (Biology)