Works matching DE "CHROMOSOME abnormalities"

Results: 5000

Copy number variation in archival melanoma biopsies versus benign melanocytic lesions.

Published in:

Cancer Biomarkers, 2016, v. 16, n. 4, p. 575, doi. 10.3233/CBM-160600

By:

Mahas, Ahmed;
Potluri, Keerti;
Kent, Michael N.;
Naik, Sameep;
Markey, Michael

Publication type:

Article

Genomic changes in rectal adenocarcinoma associated with liver metastasis.

Published in:

Cancer Biomarkers, 2013, v. 13, n. 4, p. 281, doi. 10.3233/CBM-130351

By:

Zhou, Hai-Tao;
Shi, Zhi-Zhou;
Zhou, Zhi-Xiang;
Jiang, Yan-Yi;
Hao, Jia-Jie;
Zhang, Tong-Tong;
Shi, Feng;
Xu, Xin;
Wang, Ming-Rong;
Zhang, Yu

Publication type:

Article

Frequent amplifications and deletions of G_{1}/S-phase transition genes, CCND1 and MYC in early breast cancers: A potential role in G_{1}/S escape.

Published in:

Cancer Biomarkers, 2009, v. 5, n. 1, p. 41, doi. 10.3233/CBM-2009-0570

By:

Jensen, L. B.;
Bartlett, J. M. S.;
Witton, C. J.;
Kirkegaard, T.;
Brown, S.;
Müller, S.;
Campbell, F.;
Cooke, T. G.;
Nielsen, K. V.

Publication type:

Article

Genetic Counseling for Breast Cancer Risk: General Concepts, Challenging Themes and Future Directions.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 69

By:

Peshkin, Beth N.;
Brown, Karen L.;
Moglia, Diana M.;
Grumet, Sherry

Publication type:

Article

Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1552724

By:

Lin, Fanyu;
Zeng, Jing

Publication type:

Article

First Case of Sperm Detection by Testicular Sperm Extraction in a Patient With XXY/XX Mosaicism Open Access.

Published in:

JCEM Case Reports, 2025, v. 3, n. 7, p. 1, doi. 10.1210/jcemcr/luaf096

By:

Tahani, Natascia;
Cargnelutti, Francesco;
Spaziani, Matteo;
Paoli, Donatella;
Caprio, Massimiliano;
Isidori, Andrea

Publication type:

Article

The clinical application and challenges of preimplantation genetic testing.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1599088

By:

Zhou, Fan;
Chen, Xinlian;
Liu, Shanling;
Wang, Xiaodong

Publication type:

Article

Klinefelter syndrome and ADHD: a short systematic review.

Published in:

Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1585259

By:

Zamboni, Lorenzo;
Fusina, Francesca;
Casari, Rebecca;
Lugoboni, Fabio;
Zandonai, Thomas;
Cappelletti, Sara;
Federico, Angela

Publication type:

Article

Prognostic impact of somatic mutations and additional chromosomal abnormalities in patients with myelodysplastic syndromes and chromosome 20q deletion.

Published in:

Clinical & Experimental Medicine, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10238-025-01742-8

By:

Huang, Xinhui;
Li, Xiao;
Liu, Qi;
Guo, Juan;
Chen, Jianan;
Zhou, Liyu;
Song, Luxi;
Zhang, Zheng;
Su, Jiying;
Zhang, Yumei;
Yan, Meng;
He, Qi;
Wu, Dong;
Xu, Feng;
Chang, Chunkang;
Wu, Lingyun

Publication type:

Article

The hidden causes of pregnancy loss: a closer look.

Published in:

Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06678-x

By:

Shi, Panlai;
Wang, Conghui;
Liang, Hongbin;
Zhu, XiaoFan;
Wang, Xinyan;
Ning, Yanting;
Leigh, Don;
Cram, David S.;
Kong, Xiangdong

Publication type:

Article

Majeed syndrome: first description in a patient of central-European ancestry Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3069, doi. 10.1093/rheumatology/keae480

By:

Drago, Enrico;
Bertoni, Arinna;
Grossi, Alice;
Damasio, Maria Beatrice;
Anfigeno, Lorenzo;
Miano, Maurizio;
Papa, Riccardo;
Volpi, Stefano;
Ceccherini, Isabella;
Gattorno, Marco;
Caorsi, Roberta

Publication type:

Article

High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1805, doi. 10.3390/cancers17111805

By:

Sánchez, Silvia;
García-de-Teresa, Benilde;
Mejía-Barrera, Marco A.;
Reyes-Jiménez, Pedro V.;
Paz-Martínez, Antonio;
Martínez, Miguel A.;
Fiesco-Roa, Moisés Ó.;
Monsiváis-Orozco, Angélica;
Molina, Bertha;
Torres, Leda;
Rodríguez, Alfredo;
Frias, Sara

Publication type:

Article

Single-Cell Sequencing: An Emerging Tool for Biomarker Development in Nuclear Emergencies and Radiation Oncology.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1801, doi. 10.3390/cancers17111801

By:

Yu, Jihang;
Khan, Md Gulam Musawwir;
Mayassi, Nada;
Kaushal, Bhuvnesh;
Wang, Yi

Publication type:

Article

Deep-Learning-Based Prediction of t(11;14) in Multiple Myeloma H&E-Stained Samples.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1733, doi. 10.3390/cancers17111733

By:

Kerner, Nadav;
Hershkovitz, Dov;
Trestman, Svetlana;
Shragai, Tamir;
Nachmias, Hila Lederman;
Cohen, Yael C.;
Ziv-Baran, Tomer;
Avivi, Irit

Publication type:

Article

From Chromosomal Aberrations to Transcriptome Analysis: Four Decades of Research in Bivalve Genotoxicity.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5389, doi. 10.3390/ijms26115389

By:

Khatir, Zenaba;
Leitão, Alexandra

Publication type:

Article

Genotoxic Effects of Chromium(III) and Cobalt(II) and Their Mixtures on the Selected Cell Lines.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5056, doi. 10.3390/ijms26115056

By:

Czarnek, Katarzyna;
Tatarczak-Michalewska, Małgorzata;
Blicharska, Eliza;
Siwicki, Andrzej K.;
Maciejewski, Ryszard

Publication type:

Article

Comparison between INTERGROWTH-21ST and Fenton charts for extrauterine growth in very low birth weigth infants.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01939-3

By:

Turktan, Ilkyaz;
Erdeve, Omer;
Kostekci, Ezgi;
Okulu, Emel;
Atasay, Begum;
Arsan, Saadet

Publication type:

Article

RNA binding proteins (RBPs) on genetic stability and diseases.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100032

By:

Aborode, Abdullahi Tunde;
Abass, Ohilebo Abdulateef;
Nasiru, Shaibu;
Eigbobo, Mary Ugunnushe;
Nefishatu, Sumana;
Idowu, Abdullahi;
Tiamiyu, Zainab;
Awaji, Aeshah A.;
Idowu, Nike;
Busayo, Babawale Roqeeb;
Mehmood, Qasim;
Onifade, Isreal Ayobami;
Fakorede, Sodiq;
Akintola, Ashraf Akintayo

Publication type:

Article

The preventive effect of aqueous extract of Cinnamomum zeylanicum against cytotoxicity produced by cyclophosphamide in male white mice.

Published in:

Agricultural Biotechnology Journal, 2025, v. 17, n. 2, p. 151, doi. 10.22103/jab.2025.24761.1654

By:

Mardan Al-Aamiri, Aseel Raheem

Publication type:

Article

Breakpoint–chiasma interference in pericentric inversion heterokaryotypes Open Access.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf070

By:

Kapperud, Øystein

Publication type:

Article

Analysis of the differences in immune indexes of common gene mutations and 5q- chromosome karyotype mutations in MDS.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02845-0

By:

Zheng, Hanxue;
Meng, Zilu;
Zhang, Liansheng;
Li, Lijuan

Publication type:

Article

γ-聚谷氨酸急性毒性和遗传毒性研究.

Published in:

Journal of Food Safety & Quality, 2025, v. 16, n. 11, p. 179, doi. 10.19812/j.cnki.jfsq11-5956/ts.20241222001

By:

赵悦;
赵荣;
吕中明;
俞萍

Publication type:

Article

Jacobsen syndrome in a patient with combined immunodeficiency, thrombocytopenia, congenital heart disease and facial dysmorphism: a case report and review of literature.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 147, doi. 10.5114/pja.2025.151295

By:

Özdemir, Öner;
Dikici, Ümmügülsüm;
Yarar, Murat Hakkı

Publication type:

Article

Image-based identification and isolation of micronucleated cells to dissect cellular consequences.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.101579

By:

DiPeso, Lucian;
Pendyala, Sriram;
Huang, Heather Z.;
Fowler, Douglas M.;
Hatch, Emily M.

Publication type:

Article

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1555485

By:

Hu, Xiaohang;
Guo, Jing;
Sang, Haiyang;
Yan, Jinyan;
Chang, Hong;
Liu, Ting;
Dong, Haixin;
Kong, Min;
Tian, Yanjun;
Jiang, Liqing

Publication type:

Article

A Familial Case of 1q31.2q32.2 Deletion with No Phenotypic Presentation.

Published in:

Cytogenetic & Genome Research, 2025, v. 165, n. 1, p. 23, doi. 10.1159/000543937

By:

Littlefield, Rebecca;
Weiss, Jennifer;
Zakas, Anna

Publication type:

Article

Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.

Published in:

Cytogenetic & Genome Research, 2025, v. 165, n. 1, p. 31, doi. 10.1159/000543591

By:

Kırman, Ülkü Nur;
Aliyev, Ferid;
Soğukpınar, Merve;
Şimşek Kiper, Pelin Özlem;
Aykan, Hayrettin Hakan;
Çelik, Hasan Tolga

Publication type:

Article

Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. 590, doi. 10.1093/ejendo/lvaf086

By:

Mohan, Dipika R;
Paes, Ticiana;
Mebarak, Jacobo Buelvas;
Meredith, David M;
Soares, Beatriz;
Vaz, Victor;
Carroll, Rona S;
Kaiser, Ursula B;
Smith, Timothy R;
Bi, Wenya L;
Lerario, Antonio M;
Abreu, Ana Paula

Publication type:

Article

Antioxidants Ameliorates Ionizing Radiation-Induced Microcephaly in Cerebral Organoid Derived from Human-induced Pluripotent Stem Cells.

Published in:

Radiation Research, 2025, v. 203, n. 6, p. 410, doi. 10.1667/RADE-25-00017.1

By:

Shimada, Mikio;
Matsumoto, Yoshihisa

Publication type:

Article

Chronic Toxicity and Mutagenic Effect of Photoprotective Gel Based on Melanin.

Published in:

Pharmaceutical Chemistry Journal, 2025, v. 59, n. 1, p. 36, doi. 10.1007/s11094-025-03361-9

By:

Filatova, A. V.;
Azimova, L. B.;
Yakubova, R. A.;
Turaev, A. S.

Publication type:

Article

Role of single‐nucleotide polymorphism microarray in the classification of BAP1‐inactivated melanocytic tumours.

Published in:

Histopathology, 2025, v. 87, n. 1, p. 110, doi. 10.1111/his.15434

By:

Durgin, Joseph S.;
Zoumberos, Nicholas A.;
Novice, Taylor;
Fullen, Douglas R.;
Hristov, Alexandra C.;
Lowe, Lori;
Patel, Rajiv M.;
Harms, Paul W.;
Andea, Aleodor A.;
Bresler, Scott C.

Publication type:

Article

Preclinical Evaluation of Protective Effects of Terpenoids Against Nanomaterial‐Induced Toxicity: A Meta‐Analysis.

Published in:

Journal of Applied Toxicology, 2025, v. 45, n. 7, p. 1080, doi. 10.1002/jat.4716

By:

Sun, Yuexiao;
Zhou, Yang;
Xie, Dongli;
Wang, Xuejiao;
Wang, Ya;
Liang, Yunxia;
Luo, Xiaogang

Publication type:

Article

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00314-2

By:

Wakabayashi, Hiroko;
Matsumoto, Ayumi;
Komori, Sakiko;
Goto, Masahide;
Tajima, Toshihiro;
Sasaki, Aiko;
Matsumura, Takayoshi;
Yamagata, Takanori

Publication type:

Article

Characterization of a New Stripe Rust Resistance Gene on Chromosome 2StS from Thinopyrum intermedium in Wheat.

Published in:

Plants (2223-7747), 2025, v. 14, n. 10, p. 1538, doi. 10.3390/plants14101538

By:

Jiang, Chengzhi;
Luo, Yujie;
Huang, Doudou;
Chen, Meiling;
Yang, Ennian;
Li, Guangrong;
Yang, Zujun

Publication type:

Article

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11

By:

González-Rodríguez, Juan D.;
Inglés-Torres, Esther Q.;
Cabrera-Sevilla, José E.;
Ibáñez-Micó, Salvador;
Bermejo-Costa, Francisca;
Vera-Carbonell, Ascensión;
Bafalliu-Vidal, Juan A.;
Cortés-Mora, Pedro;
Lorente-Nicolás, Ana;
Donate-Legaz, José María

Publication type:

Article

Morphological Markers of Chromosomal Instability: A Useful Aid in Effusion Cytology.

Published in:

Journal of Cytology, 2025, v. 42, n. 2, p. 95, doi. 10.4103/joc.joc_15_24

By:

Buch, Archana;
Agarwal, Mallika;
Londhe, Mangesh;
Singh, Madhuri;
Raj, Akshi;
Gore, Charusheela

Publication type:

Article

Chromosomal abnormalities of embryos from sporadic and recurrent miscarriages: a tertiary center experience.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10557-5

By:

Kocaaga, A.;
Salik, E. Akca

Publication type:

Article

A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 1, p. 24, doi. 10.26719/2012.18.1.24

By:

Khakshoor, H.;
Daneshvar, R.;
Banaee, T.;
Tabatabaee Yazdi, S. A.;
Hasanzadeh Nazarabadi, M.;
Moosavi, M.;
Tavassoli, F.;
Mahdavi, R.

Publication type:

Article

Splenic Marginal Zone Lymphoma: Current Knowledge and Future Directions.

Published in:

Oncology (08909091), 2012, v. 26, n. 2, p. 194

By:

Thieblemont, Catherine;
Davi, Frederic;
Noguera, Maria-Elena;
Briere, Josette;
Bertoni, Francesco;
Zucca, Emanuele;
Traverse-Glehen, Alexandra;
Felman, Pascale;
Berger, Francoise;
Salles, Gilles;
Coiffier, Bertrand

Publication type:

Article

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter).

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 7, p. 754, doi. 10.2298/VSP170316136J

By:

Joksić, Ivana;
Liehr, Thomas;
Toljić, Mina;
Karadzov-Orlić, Nataša;
Milovanović, Zagorka;
Miković, Željko;
Egić, Amira

Publication type:

Article

Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 5, p. 516, doi. 10.2298/VSP171129117D

By:

Djordjević, Vesna;
Denčić-Fekete, Marija;
Jovanović, Jelica;
Soldatović, Ivan;
Janković, Gradimir;
Bogdanović, Andrija

Publication type:

Article

A cell-based screen identifies ATR inhibitors with synthetic lethal properties for cancer-associated mutations.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 6, p. 721, doi. 10.1038/nsmb.2076

By:

Toledo, Luis I.;
Murga, Matilde;
Zur, Rafal;
Soria, Rebeca;
Rodriguez, Antonio;
Martinez, Sonia;
Oyarzabal, Julen;
Pastor, Joaquin;
Bischoff, James R.;
Fernandez-Capetillo, Oscar

Publication type:

Article

Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 10, p. 1255, doi. 10.1038/nsmb.1916

By:

Dray, Eloïse;
Etchin, Julia;
Wiese, Claudia;
Saro, Dorina;
Williams, Gareth J.;
Hammel, Michal;
Xiong Yu;
Galkin, Vitold E.;
Dongqing Liu;
Miaw-Sheue Tsai;
Sy, Shirley M.-H.;
Schild, David;
Egelman, Edward;
Junjie Chen;
Sung, Patrick

Publication type:

Article

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 226, doi. 10.1038/nsmb.1527

By:

Voineagu, Irina;
Surka, Christine F;
Shishkin, Alexander A;
Krasilnikova, Maria M;
Mirkin, Sergei M

Publication type:

Article

SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 159, doi. 10.1038/nsmb.1544

By:

Kerrest, Alix;
Anand, Ranjith P;
Sundararajan, Rangapriya;
Bermejo, Rodrigo;
Liberi, Giordano;
Dujon, Bernard;
Freudenreich, Catherine H;
Richard, Guy-Franck

Publication type:

Article

Huntington's disease, concurrent to dementia: a case report.

Published in:

2013

By:

Tuman, Taha Can;
Kayka, Nefise;
Eroglu, Tarik;
Yildirim, Osman

Publication type:

Abstract

Homosistinüri ve Erken Başlangıçlı Şizofreni: Olgu Sunumu.

Published in:

Klinik Psikofarmakoloji Bulteni, 2008, v. 18, n. 4, p. 298

By:

Taş, Cumhur;
Esen-Danacı, Ayşen

Publication type:

Article

Tuberculosis Drug Resistance Mutation Database.

Published in:

PLoS Medicine, 2009, v. 6, n. 2, p. e2, doi. 10.1371/journal.pmed.1000002

By:

Sandgren, Andreas;
Strong, Michael;
Muthukrishnan, Preetika;
Weiner, Brian K;
Church, George M;
Murray, Megan B

Publication type:

Article

Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism.

Published in:

PLoS Medicine, 2008, v. 5, n. 4, p. e88, doi. 10.1371/journal.pmed.0050088

By:

Kossack, Nina;
Simoni, Manuela;
Richter-Unruh, Annette;
Themmen, Axel P. N.;
Gromoll, Jörg

Publication type:

Article

Cleft lip and palate genetics and application in early embryological development.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. S1, p. S35, doi. 10.1055/s-0039-1699375

By:

Yu, Wenli;
Serrano, Maria;
San Miguel, Symone;
Ruest, L. Bruno;
Svoboda, Kathy K. H.

Publication type:

Article