Works about CHROMOSOMAL rearrangement


Results: 1223
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    The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2437
    By:
    • Bouassida, Malek;
    • Molina‐Gomes, Denise;
    • Koraichi, Fairouz;
    • Hervé, Bérénice;
    • Lhuilier, Morgane;
    • Duvillier, Clémence;
    • Le Gall, Jessica;
    • Gauthier‐Villars, Marion;
    • Serazin, Valérie;
    • Quibel, Thibaud;
    • Dard, Rodolphe;
    • Vialard, François
    Publication type:
    Article
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    Aberrant X chromosomal rearrangement through multi‐step template switching during sister chromatid formation in a patient with severe hemophilia A.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1390
    By:
    • Tokoro, Mahiru;
    • Tamura, Shogo;
    • Suzuki, Nobuaki;
    • Kakihara, Misaki;
    • Hattori, Yuna;
    • Odaira, Koya;
    • Suzuki, Sachiko;
    • Takagi, Akira;
    • Katsumi, Akira;
    • Hayakawa, Fumihiko;
    • Okamoto, Shuichi;
    • Suzuki, Atsuo;
    • Kanematsu, Takeshi;
    • Matsushita, Tadashi;
    • Kojima, Tetsuhito
    Publication type:
    Article
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    Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1114
    By:
    • Uguen, Kévin;
    • Jubin, Claire;
    • Duffourd, Yannis;
    • Bardel, Claire;
    • Malan, Valérie;
    • Dupont, Jean‐Michel;
    • El Khattabi, Laila;
    • Chatron, Nicolas;
    • Vitobello, Antonio;
    • Rollat‐Farnier, Pierre‐Antoine;
    • Baulard, Céline;
    • Lelorch, Marc;
    • Leduc, Aurélie;
    • Tisserant, Emilie;
    • Tran Mau‐Them, Frédéric;
    • Danjean, Vincent;
    • Delepine, Marc;
    • Till, Marianne;
    • Meyer, Vincent;
    • Lyonnet, Stanislas
    Publication type:
    Article
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    Homeology of sex chromosomes in Amazonian Harttia armored catfishes supports the X-fission hypothesis for the X<sub>1</sub>X<sub>2</sub>Y sex chromosome system origin.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42617-w
    By:
    • de Menezes Cavalcante Sassi, Francisco;
    • Sember, Alexandr;
    • Deon, Geize Aparecida;
    • Liehr, Thomas;
    • Padutsch, Niklas;
    • Oyakawa, Osvaldo Takeshi;
    • Vicari, Marcelo Ricardo;
    • Bertollo, Luiz Antonio Carlos;
    • Moreira-Filho, Orlando;
    • de Bello Cioffi, Marcelo
    Publication type:
    Article
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    Homeology of sex chromosomes in Amazonian Harttia armored catfishes supports the X-fission hypothesis for the X<sub>1</sub>X<sub>2</sub>Y sex chromosome system origin.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42617-w
    By:
    • de Menezes Cavalcante Sassi, Francisco;
    • Sember, Alexandr;
    • Deon, Geize Aparecida;
    • Liehr, Thomas;
    • Padutsch, Niklas;
    • Oyakawa, Osvaldo Takeshi;
    • Vicari, Marcelo Ricardo;
    • Bertollo, Luiz Antonio Carlos;
    • Moreira-Filho, Orlando;
    • de Bello Cioffi, Marcelo
    Publication type:
    Article
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    Establishment and characterization of patient-derived xenograft of a rare pediatric anaplastic pleomorphic xanthoastrocytoma (PXA) bearing a CDC42SE2-BRAF fusion.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36107-2
    By:
    • Damayanti, Nur P.;
    • Saadatzadeh, M. Reza;
    • Dobrota, Erika;
    • Ordaz, Josue D.;
    • Bailey, Barbara J.;
    • Pandya, Pankita H.;
    • Bijangi-Vishehsaraei, Khadijeh;
    • Shannon, Harlan E.;
    • Alfonso, Anthony;
    • Coy, Kathy;
    • Trowbridge, Melissa;
    • Sinn, Anthony L.;
    • Zhang, Zhong-Yin;
    • Gallagher, Rosa I.;
    • Wulfkuhle, Julia;
    • Petricoin, Emanuel;
    • Richardson, Angela M.;
    • Marshall, Mark S.;
    • Lion, Alex;
    • Ferguson, Michael J.
    Publication type:
    Article
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    Insights into early generation synthetic amphidiploid Brassica juncea : a strategy to harness maximum parental genomic diversity for improving Indian mustard.

    Published in:
    Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2025.1493618
    By:
    • Garg, Pooja;
    • Tripathi, Shikha;
    • Kashyap, Anamika;
    • Anil Kumar, A.;
    • Kumari, Sujata;
    • Singh, Mandeep;
    • Kushwaha, Ranjeet;
    • Sharma, Shiv Shankar;
    • Sharma, Jyoti;
    • Yadav, Rashmi;
    • Gupta, N. C.;
    • Singh, Naveen;
    • Bhattacharya, Ramcharan;
    • Chhokar, Vinod;
    • Rao, Mahesh
    Publication type:
    Article
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