Works matching DE "DNA copy number variations"

Results: 3161

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

Deletion and Copy Number Variation of Y-Chromosomal Regions in Coho Salmon, Chum Salmon, and Pink Salmon Populations.

Published in:

Transactions of the American Fisheries Society, 2017, v. 146, n. 2, p. 240, doi. 10.1080/00028487.2016.1254113

By:

Muttray, A. F.;
Sakhrani, D.;
Smith, J. L.;
Nakayama, I.;
Davidson, W. S.;
Park, L.;
Devlin, R. H.

Publication type:

Article

Recurrent status epilepticus and severe bifrontal hypometabolism in PGAP1‐related neurodevelopmental disorder.

Published in:

Epileptic Disorders, 2025, v. 27, n. 2, p. 304, doi. 10.1002/epd2.20336

By:

Benabess, Samia;
Myers, Kenneth A.

Publication type:

Article

Genetic neonatal seizures in the neonatal intensive care unit: Diagnostic and prognostic implications for three families.

Published in:

Epileptic Disorders, 2025, v. 27, n. 2, p. 196, doi. 10.1002/epd2.20315

By:

Chen, Rongrong;
Wu, Huiming;
Lu, Yi;
Yin, Honggang;
Wang, Xueqian;
Zhang, Xiaohua

Publication type:

Article

线粒体 DNA 突变和拷贝数变异与肿瘤诊治的研究进展.

Published in:

Fudan University Journal of Medical Sciences, 2025, v. 52, n. 3, p. 446, doi. 10.3969/j.issn.1672-8467.2025.03.016

By:

李懿皞;
郭玮

Publication type:

Article

Integrated cytogenetic and genomic profiling of the MDS-L cell line.

Published in:

Molecular Cytogenetics (17558166), 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13039-025-00714-7

By:

Mestre, Julia;
Chaparro-González, Lorea;
Granada, Isabel;
Mallo, Mar;
Cid, Emili;
Mancini, Estefania;
Calvete, Oriol;
Risueño, Ruth M.;
Starczynowski, Daniel T.;
Solé, Francesc

Publication type:

Article

Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1571467

By:

Gong, Yan;
Yin, Xiaoqin;
Xu, Jing;
Li, Yan;
Liu, Qingxu;
Zhou, Shasha;
Wang, Fei;
Lyu, Yiqing;
Guo, Sheng;
Huang, Wenyan;
Li, Pin

Publication type:

Article

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100039

By:

da Cunha, Gabriela Corassa Rodrigues;
de Souza, Vanessa Sodré;
Zuben, Marcus Von;
Córdoba, Mara Santos;
Ayrimoraes Soares, Mayra Veloso;
Bonadio, Raphael Severino;
de Oliveira, Daniela Mara;
de Oliveira, Silviene Fabiana;
de Mazzeu Araújo, Juliana Forte;
Pic-Taylor, Aline

Publication type:

Article

Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100008

By:

Krishnamurthy, Nandini;
Krishna, Devi;
Sanjana;
Rathinasamy, Jebaraj;
Kumar, Ashok;
Francis, Andrea Mary

Publication type:

Article

Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09614-8

By:

Sylvester, Amy L.;
Hensenne, Eva;
Ivanov, Dimo;
Poser, Benedikt A.;
Linden, David E. J.;
van Amelsvoort, Thérèse;
Vingerhoets, Claudia

Publication type:

Article

Expression of kinetochore component NDC80 promotes esophageal squamous cell carcinoma cells proliferation and migration.

Published in:

BMC Gastroenterology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12876-025-04048-x

By:

Shi, Youwu;
Sun, Jing;
Du, Feng;
Sun, Zhiwei;
Yang, Ying;
Yu, Jing;
Xiao, Yanjie;
Sun, Xiaoyu;
Zhang, Wen;
Zheng, Hongkun;
Zhang, Xiaodong;
Jia, Jun

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

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Published in:

BJU International, 2025, v. 135, n. 5, p. 792, doi. 10.1111/bju.16620

By:

Axelsson, Tomas Andri;
Sydén, Filip;
Eisfeldt, Jesper;
Eriksson, Ylva;
Lundberg, Gustav Göthner;
Jaremko, Georg;
Gyllensten, Ollanta Cuba;
Tham, Emma;
Brehmer, Marianne

Publication type:

Article

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.

Published in:

BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400232

By:

Rodriguez‐Algarra, Francisco;
Whittaker, Elliott;
del Castillo del Rio, Sandra;
Rakyan, Vardhman K.

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

Factor H-related 1 and heparan sulfate architecture contribute to complement dysregulation in C3 glomerulopathy.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1589674

By:

Slagle, Amanda K.;
Ghiringhelli Borsa, Nicolo;
Wang, Kai;
Taylor, Amanda O.;
Meyer, Nicole C.;
Jones, Michael B.;
Walls, William D.;
Nelson, Angela F. M.;
Roberts, Sarah M.;
Sun, Mingyao;
Goicoechea de Jorge, Elena;
Rodriguez de Cordoba, Santiago;
Jalal, Diana I.;
Nester, Carla M.;
Zhang, Yuzhou;
Smith, Richard J. H.

Publication type:

Article

Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns.

Published in:

Genes, 2025, v. 16, n. 5, p. 478, doi. 10.3390/genes16050478

By:

La Monica, Ilaria;
Di Iorio, Maria Rosaria;
Sica, Antonia;
Rufino, Francesca;
Sotira, Chiara;
Pastore, Lucio;
Lombardo, Barbara

Publication type:

Article

Molecular Prognostic Factors in Uterine Serous Carcinomas: A Systematic Review.

Published in:

Current Oncology, 2025, v. 32, n. 5, p. 251, doi. 10.3390/curroncol32050251

By:

Svarna, Anna;
Liontos, Michalis;
Papatheodoridi, Alkistis;
Papanota, Aristea-Maria;
Zografos, Eleni;
Kaparelou, Maria;
Zagouri, Flora;
Dimopoulos, Meletios-Athanasios

Publication type:

Article

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4487, doi. 10.3390/ijms26104487

By:

Ahting, Simone;
Henn, Constance;
vom Hove, Maike;
Strehlow, Vincent;
Duffek, Patricia;
Behrendt, Sophie;
Drukewitz, Stephan;
Berger, Jasmin;
Graeber, Simon Y.;
Hentschel, Julia

Publication type:

Article

Chromosomal Duplication Syndromes: A Case Series.

Published in:

Neurology India, 2024, v. 72, n. 1, p. 124, doi. 10.4103/ni.ni_400_21

By:

Panigrahi, Inusha;
Shariq, Mohammed;
Bamba, Chitra;
Kaur, Ramandeep;
Bhatt, Yogita;
Srivastava, Priyanka

Publication type:

Article

The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1285, doi. 10.1007/s10815-024-03119-4

By:

Qin, Yu;
Touch, Koksear;
Sha, Menghan;
Sun, Yanan;
Zhang, Shunran;
Wu, Jianli;
Wu, Yuanyuan;
Feng, Ling;
Chen, Suhua;
Xiao, Juan

Publication type:

Article

High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants.

Published in:

2024

By:

Leahy, Deirdre;
Marin, Diego;
Xu, Jia;
Eccles, Jennifer;
Treff, Nathan R.

Publication type:

Case Study

Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 9, p. 2211, doi. 10.1007/s10815-023-02886-w

By:

Vanderschelden, Rachel K;
Rodriguez-Escriba, Marta;
Chan, Serena H.;
Berman, Andrea J.;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 9, p. 2157, doi. 10.1007/s10815-023-02876-y

By:

Chen, Song-Chang;
Zhou, Xuan-You;
Li, Shu-Yuan;
Zhao, Ming-Min;
Huang, He-Feng;
Jia, Jia;
Xu, Chen-Ming

Publication type:

Article

Genomic imbalance in euploid pregnancy loss.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 9, p. 2115, doi. 10.1007/s10815-022-02527-8

By:

Gu, Chongjuan;
Li, Kuanrong;
Li, Ling;
Gao, Huan;
Li, Ru;
He, Yaojuan

Publication type:

Article

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 2, p. 357, doi. 10.1007/s10815-022-02400-8

By:

Kowalczyk, Katarzyna;
Smyk, Marta;
Bartnik-Głaska, Magdalena;
Plaskota, Izabela;
Wiśniowiecka-Kowalnik, Barbara;
Bernaciak, Joanna;
Chojnacka, Marta;
Paczkowska, Magdalena;
Niemiec, Magdalena;
Dutkiewicz, Daria;
Kozar, Agata;
Magdziak, Róża;
Krawczyk, Wojciech;
Pietras, Grzegorz;
Michalak, Elżbieta;
Klepacka, Teresa;
Obersztyn, Ewa;
Bal, Jerzy;
Nowakowska, Beata Anna

Publication type:

Article

Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 1, p. 267, doi. 10.1007/s10815-021-02351-6

By:

Hu, Yue;
Liu, Wen;
He, Guoping;
Xu, Jingjing;
Peng, Yaqin;
Wang, Jing

Publication type:

Article

Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2881, doi. 10.1007/s10815-021-02325-8

By:

Yang, Jingyi;
Yan, Zhiqiang;
Liu, Yan;
Zhu, Xiaohui;
Li, Rong;
Liu, Ping;
Yan, Liying;
Qiao, Jie;
Zhi, Xu

Publication type:

Article

Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 719, doi. 10.1007/s10815-020-02055-3

By:

Rotshenker-Olshinka, Keren;
Srebnik Moshe, Naama;
Weiss, Omri;
Shaviv, Shira;
Freireich, Orit;
Segel, Reeval;
Zeligson, Sharon;
Eldar-Geva, Talia;
Altarescu, Gheona

Publication type:

Article

Comprehensive genetic testing for female and male infertility using next-generation sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 8, p. 1489, doi. 10.1007/s10815-018-1204-7

By:

Patel, Bonny;
Parets, Sasha;
Akana, Matthew;
Kellogg, Gregory;
Jansen, Michael;
Chang, Chihyu;
Cai, Ying;
Fox, Rebecca;
Niknazar, Mohammad;
Shraga, Roman;
Hunter, Colby;
Pollock, Andrew;
Wisotzkey, Robert;
Jaremko, Malgorzata;
Bisignano, Alex;
Puig, Oscar

Publication type:

Article

Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 4, p. 721, doi. 10.1007/s10815-018-1117-5

By:

Priya, Pritti K.;
Mishra, Vineet V.;
Liehr, Thomas;
Ziegler, Monika;
Tiwari, Stuti;
Patel, Alpesh;
Chettiar, Shiva Shankar;
Patel, Hetvi

Publication type:

Article

Is mitochondrial DNA quantitation in blastocyst trophectoderm cells predictive of developmental competence and outcome in clinical IVF?

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 12, p. 1581, doi. 10.1007/s10815-017-1072-6

By:

Viotti, Manuel;
Victor, Andrea;
Zouves, Christo;
Barnes, Frank

Publication type:

Article

Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 7, p. 899, doi. 10.1007/s10815-016-0724-2

By:

Zhang, Wenke;
Liu, Ying;
Wang, Li;
Wang, Hui;
Ma, Minyue;
Xu, Mengnan;
Xu, Xiaofei;
Gao, ZhiYing;
Duan, Jinliang;
Cram, David;
Yao, Yuanqing

Publication type:

Article

Mitochondrial DNA copy number in cumulus cells is a strong predictor of obtaining good-quality embryos after IVF.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 3, p. 367, doi. 10.1007/s10815-015-0621-0

By:

Ogino, Mai;
Tsubamoto, Hiroshi;
Sakata, Kazuko;
Oohama, Naoko;
Hayakawa, Hitomi;
Kojima, Teruhito;
Shigeta, Minoru;
Shibahara, Hiroaki

Publication type:

Article

Vitrification of in vitro matured oocytes diminishes embryo development potential before but not after embryo genomic activation.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 2, p. 231, doi. 10.1007/s10815-015-0637-5

By:

Sun, Yijuan;
Gu, Ruihuan;
Lu, Xiaowei;
Zhao, Shen;
Feng, Yun

Publication type:

Article

Genomic analysis across 53 canine cancer types reveals novel mutations and high clinical actionability potential.

Published in:

Veterinary & Comparative Oncology, 2024, v. 22, n. 1, p. 30, doi. 10.1111/vco.12944

By:

Sakthikumar, Sharadha;
Warrier, Manisha;
Whitley, Derick;
Facista, Salvatore;
Adkins, Jonathan;
Aman, Sara;
Tsinajinnie, Darwin;
Duran, Natalie;
Siravegna, Giulia;
Ahmed, Zeeshan;
Day, Kenneth;
Jenkins, Brooklyn;
Patel, Nidhi;
Ryden, Kirk;
Nadai, Joe;
Banovich, Kathryn;
Powers, Barbara;
Edwards, Jeffrey;
Steinberg, Jennifer;
Fielder, Susan

Publication type:

Article

Integrated analysis of transcriptome, methylome and copy number aberrations data of marginal zone lymphoma and follicular lymphoma in dog.

Published in:

Veterinary & Comparative Oncology, 2020, v. 18, n. 4, p. 645, doi. 10.1111/vco.12588

By:

Giannuzzi, Diana;
Giudice, Luca;
Marconato, Laura;
Ferraresso, Serena;
Giugno, Rosalba;
Bertoni, Francesco;
Aresu, Luca

Publication type:

Article

Reachability bounds for chemical reaction networks and strand displacement systems.

Published in:

Natural Computing, 2014, v. 13, n. 4, p. 499, doi. 10.1007/s11047-013-9403-8

By:

Condon, Anne;
Kirkpatrick, Bonnie;
Maňuch, Ján

Publication type:

Article

Genetic components of microdeletion syndromes and their role in determining schizophrenia traits.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09731-y

By:

Biswal, Smruti Rekha;
Kumar, Ajay;
Muthuswamy, Srinivasan;
Kumar, Santosh

Publication type:

Article

Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09545-y

By:

Akkus, Nejmiye;
Cubuk, Pelin Ozyavuz

Publication type:

Article

Efficient Agrobacterium tumefaciens-mediated target gene disruption in the maize pathogen Curvularia lunata.

Published in:

European Journal of Plant Pathology, 2016, v. 145, n. 1, p. 155, doi. 10.1007/s10658-015-0825-2

By:

Zhang, Li;
Li, Hui;
Xiao, Shuqin;
Lu, Yuanyuan;
Li, Guofu;
Xue, Chunsheng;
Chen, Jie

Publication type:

Article

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

Published in:

Chromosome Research, 2024, v. 32, n. 3, p. 1, doi. 10.1007/s10577-024-09754-y

By:

Jiang, Xiali;
Liang, Bin;
Chen, Bilian;
Wu, Xiaoqing;
Wang, Yan;
Lin, Na;
Huang, Hailong;
Xu, Liangpu

Publication type:

Article

Ribosomal DNA-connecting ribosome biogenesis and chromosome biology.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 1, doi. 10.1007/s10577-018-9601-4

By:

Porokhovnik, Lev;
Gerton, Jennifer L.

Publication type:

Article

Ribosomal DNA instability and genome adaptability.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 73, doi. 10.1007/s10577-018-9599-7

By:

Salim, Devika;
Gerton, Jennifer L.

Publication type:

Article

Dosage effects of human ribosomal genes (rDNA) in health and disease.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 5, doi. 10.1007/s10577-018-9587-y

By:

Porokhovnik, L. N.;
Lyapunova, N. A.

Publication type:

Article

Cytogenetic instability of chromosomal nucleolar organizer regions (NORs) in cloned mouse L929 fibroblasts.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 95, doi. 10.1007/s10577-018-9598-8

By:

Zatsepina, Olga V.

Publication type:

Article

Genomic profiling of canine mast cell tumors identifies DNA copy number aberrations associated with KIT mutations and high histological grade.

Published in:

Chromosome Research, 2017, v. 25, n. 2, p. 129, doi. 10.1007/s10577-016-9543-7

By:

Mochizuki, Hiroyuki;
Thomas, Rachael;
Moroff, Scott;
Breen, Matthew

Publication type:

Article

Genome-wide assessment of recurrent genomic imbalances in canine leukemia identifies evolutionarily conserved regions for subtype differentiation.

Published in:

Chromosome Research, 2015, v. 23, n. 4, p. 681, doi. 10.1007/s10577-015-9475-7

By:

Roode, Sarah;
Rotroff, Daniel;
Avery, Anne;
Suter, Steven;
Bienzle, Dorothee;
Schiffman, Joshua;
Motsinger-Reif, Alison;
Breen, Matthew

Publication type:

Article

Genomic profiling reveals extensive heterogeneity in somatic DNA copy number aberrations of canine hemangiosarcoma.

Published in:

Chromosome Research, 2014, v. 22, n. 3, p. 305, doi. 10.1007/s10577-014-9406-z

By:

Thomas, Rachael;
Borst, Luke;
Rotroff, Daniel;
Motsinger-Reif, Alison;
Lindblad-Toh, Kerstin;
Modiano, Jaime;
Breen, Matthew

Publication type:

Article

Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization.

Published in:

Chromosome Research, 2014, v. 22, n. 1, p. 59, doi. 10.1007/s10577-014-9405-0

By:

Skinner, Benjamin;
Al Mutery, Abdullah;
Smith, Deborah;
Völker, Martin;
Hojjat, Nilofour;
Raja, Sannaa;
Trim, Steven;
Houde, Peter;
Boecklen, William;
Griffin, Darren

Publication type:

Article