Papers matching “chromosomal abnormalities” 22
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Dynamic X-chromosomal reactivation enhances female brain resilience2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Stephan Käseberg, Ramkumar Menon, Elisa Gabassi, Hristo Todorov, Sarah Frank, Heiko Brennenstuhl, +13 more
4citations -
Interactions in CSF1-driven Tenosynovial Giant Cell Tumors2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Musculoskeletal synovial abnormalities and treatments Open access
David G.P. van IJzendoorn, Magdalena Matusiak, Gregory W. Charville, Geert Spierenburg, Sushama Varma, Deana R.C. Colburg, +10 more
3citations -
Identification of Y-chromosome turnover in newts fails to support a sex chromosome origin for the Triturus balanced lethal system2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
James France, Wiesław Babik, Milena Cvijanović, Katarzyna Dudek, Tijana Z. Vučić, Ben Wielstra
2citations -
The genome of New Zealand trevally (Carangidae: Pseudocaranx georgianus) uncovers a XY sex determination locus2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Mike Ruigrok, Andrew S. Catanach, Deepa R. Bowatte, Marcus W. Davy, Roy D. Storey, Noémie Valenza-Troubat, +5 more
6citations -
Linkage mapping vs Association: A comparison of two RADseq-based approaches to identify markers for homomorphic sex chromosomes in large genomes.2024 preprint Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
James France, Wiesław Babik, Katarzyna Dudek, Marzena Marszałek, Ben Wielstra
2citations -
The Impact of Sex Chromosome Trisomies (XXX, XXY, XYY) on Social Attention and Affect Recognition: A Cross-Sectional Eye Tracking Study2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access
Nienke Bouw, Hanna Swaab, Nicole R. Tartaglia, Lisa Cordeiro, Sophie van Rijn
0citations -
SVision: A deep learning approach to resolve complex structural variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Kai Ye, Jiadong Lin, Songbo Wang, Peter A. Audano, Jacob I. Flores, Walter A. Kosters, +4 more
2citations -
CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, +3 more
1citations -
Mako: a graph-based pattern growth approach to detect complex structural variants2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +8 more
1citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
Rare copy number variants (CNVs) and breast cancer risk2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla, +89 more
0citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
0citations -
Rare Copy Number Variants (CNVs) and Breast Cancer Risk2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet Bola, +94 more
0citations -
A novel genetic strategy to interrogate an unknown phenotypic modifier: an Sdhc KO-Robertsonian mouse with a semi-homologous chromosome develops papillary thyroid carcinoma-like tumours0citations
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Patients with Chromosome 11q-abberations are Characterized by a Combined Primary Immunodeficiency Involving Both B- and T-lymphocytes2021 Research Square preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Elise J. Huisman, A. Rick Brooimans, Samone Mayer, Marieke Joosten, Louis J Bont, Elisabeth L. M. Rammeloo, +6 more
0citations
22 results