Results 31 to 40 of about 9,740,536 (302)

MYC amplifications are common events in childhood osteosarcoma

The Journal of Pathology: Clinical Research, 2021
Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known.
Solange De Noon, Jannat Ijaz, Tim HH Coorens, Fernanda Amary, Hongtao Ye, Anna Strobl, Iben Lyskjær, Adrienne M Flanagan, Sam Behjati   +8 more
doaj   +1 more source

Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
core   +1 more source

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine, 2021
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to ...
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi   +12 more
doaj   +1 more source

Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]

, 2014
MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
Manfred Milinski (47828), Samonte, I., Tobias L. Lenz, Erich Bornberg-Bauer (135063), Bornberg-Bauer, E, Reusch, Thorsten B. H., Mahesh Panchal, Philine G. D. Feulner, Panchal, Mahesh, Philine G D Feulner, Samonte, IE, Feulner, P., Panchal, M., Philine G. D. Feulner (331067), Milinski, Manfred, Eizaguirre, C, Samonte, Irene E., Monika Stoll (77524), Kalbe, M., Monika Stoll, Reusch, TBH, Christophe Eizaguirre (669459), Chain, Frédéric J. J., Stoll, Monika, Irene E. Samonte (669460), Irene E Samonte, Reusch, T., Lenz, TL, Christophe Eizaguirre, Kalbe, Martin, Manfred Milinski, Panchal, M, Frédéric J. J. Chain (270412), Eizaguirre, C., Thorsten B H Reusch, Martin Kalbe, Martin Kalbe (47827), Chain, F. J. J., Chain, F., Kalbe, M, Eizaguirre, Christophe, Frédéric J. J. Chain, Lenz, T. L., Mahesh Panchal (669458), Reusch, Thorsten B.H., Thorsten B. H. Reusch (333945), Lenz, T., Stoll, M., Milinski, M, Tobias L Lenz, Feulner, Philine, Bornberg-Bauer, Erich, Irene E. Samonte, Chain, FJJ, Erich Bornberg-Bauer, Samonte, I. E., Stoll, M, Feulner, PGD, Zhang, Jianzhi, Feulner, P. G. D., Bornberg-Bauer, E., Thorsten B. H. Reusch, Frédéric J J Chain, Milinski, M., Tobias L. Lenz (669461), Lenz, Tobias L.   +65 more
core   +3 more sources

Contribution of rare copy number variants to isolated human malformations. [PDF]

PLoS ONE, 2012
BACKGROUND: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is ...
Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado   +6 more
doaj   +1 more source

Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485)   +37 more
core   +1 more source

Rare germline copy number variants (CNVs) and breast cancer risk

Communications Biology, 2022
Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset.
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla, Qin Wang, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Hermann Brenner, Jose E. Castelao, Jenny Chang-Claude, Georgia Chenevix-Trench, Christine L. Clarke, NBCS Collaborators, J. Margriet Collée, CTS Consortium, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Laure Dossus, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G. Giles, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A. Haiman, Per Hall, Antoinette Hollestelle, Reiner Hoppe, John L. Hopper, Anthony Howell, ABCTB Investigators, kConFab/AOCS Investigators, Agnes Jager, Anna Jakubowska, Esther M. John, Nichola Johnson, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Renske Keeman, Elza Khusnutdinova, Cari M. Kitahara, Yon-Dschun Ko, Veli-Matti Kosma, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, James V. Lacey, Diether Lambrechts, Nicole L. Larson, Martha Linet, Alicja Ogrodniczak, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Taru A. Muranen, Rachel A. Murphy, Heli Nevanlinna, Janet E. Olson, Håkan Olsson, Tjoung-Won Park-Simon, Charles M. Perou, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Rana Shibli, Ann Smeets, Penny Soucy, Melissa C. Southey, Anthony J. Swerdlow, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Mary Beth Terry, Ian Tomlinson, Melissa A. Troester, Thérèse Truong, Celine M. Vachon, Camilla Wendt, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Argyrios Ziogas, Jacques Simard, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton   +123 more
doaj   +1 more source

Copy number, linkage disequilibrium and disease association in the FCGR locus [PDF]

, 2010
The response of a leukocyte to immune complexes (ICs) is modulated by receptors for the Fc region of IgG (FcgammaRs), and alterations in their affinity or function have been associated with risk of autoimmune diseases, including systemic lupus ...
Padyukov, L, T. F. Rayner, Willcocks, Lisa C, W. Yang, L. C. Willcocks, J. A. G. Scott, S. J. Dunstan, Rayner, Tim F, I. Gunnarsson, Niederer, Heather A., Smith, KG, Peshu, N, B. C. Urban, Svenungsson, Elisabet, Scott, John, Clayton, David G., P. A. Lyons, Niederer, Heather A, Williams, TN, Lyons, Paul A., Urban, Britta, Scott, J. Anthony G., Y. L. Lau, Yang, Wanling, Williams, Thomas N., Willcocks, LC, L. Padyukov, Clayton, David G, N. Peshu, Watts, Richard A., Savage, Caroline, Yang, W, Dunstan, SJ, Dunstan, Sarah, Urban, BC, Watts, RA, N. H. Phu, T. T. Hien, Phu, Nguyen Hoan, Rayner, TF, Scott, JAG, Hien, Tran, Willcocks, Lisa C., Clayton, DG, Savage, CO, Lyons, PA, T. N. Williams, E. Svenungsson, K. G. C. Smith, Rayner, Tim F., Hien, TT, Hien, Tran Tinh, Svenungsson, E, Padyukov, Leonid, Smith, Kenneth G.C., Gunnarsson, I, Savage, Caroline O, Smith, Kenneth G C, Gunnarsson, Iva, Peshu, Norbert, Lau, YL, Phu, NH, Smith, KGC, Lau, Yu Lung, R. A. Watts, Watts, Richard A, Savage, Caroline O., Scott, JA, H. A. Niederer, Scott, J Anthony G, Urban, Britta C, Smith, Kenneth GC, Williams, Thomas N, C. O. Savage, D. G. Clayton, Niederer, HA, Williams, Thomas, Dunstan, Sarah J., Dunstan, Sarah J, Lyons, Paul A   +79 more
core   +2 more sources

Diagnostic copy number variants (CNV).

, 2021
Diagnostic copy number variants (CNV).
Juha Koskenvuo (4375090), Eija H. Seppälä (10090350), Kirsi Alakurtti (11372222), Akashdeep Singh (11372225), Tero-Pekka Alastalo (839757), Emanuela Izzo (11372219), Lotta Koskinen (3705991), Samuel Myllykangas (92474), Kimberly Gall (11372216), Inka Saarinen (10090344)   +9 more
core   +1 more source

Understanding the impact of 1q21.1 copy number variant [PDF]

Orphanet Journal of Rare Diseases, 2011
Abstract Background 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype. Hence, the clinical significance of this CNV can be difficult to evaluate.
Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M, O’Driscoll, Mark, Rajcan-Separovic, Evica   +19 more
openaire   +5 more sources