Results 41 to 50 of about 10,451,845 (193)

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families [PDF]

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
core   +1 more source

Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +2 more sources

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

Identification of Copy Number Variations in Xiang and Kele Pigs. [PDF]

PLoS ONE, 2016
Xiang and Kele pigs are two well-known local Chinese pig breeds that possess rich genetic resources and have enormous economic and scientific value. We performed a comprehensive genomic analysis of the copy number variations (CNVs) in these breeds.
Jian Xie, Rongrong Li, Sheng Li, Xueqin Ran, Jiafu Wang, Jicai Jiang, Pengju Zhao   +6 more
doaj   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +1 more source

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data. [PDF]

, 2014
Targeted resequencing technologies have allowed for efficient and cost-effective detection of genomic variants in specific regions of interest. Although capture sequencing has been primarily used for investigating single nucleotide variants and indels ...
Bellos, Evangelos; https://orcid.org/, Bellos, Evangelos, Kumar, Vikrant, Cheng, C-Y, Cheng, CY, Wong, TYI, Davila, S, Bellos, E, Phua, ZYA, Maggi, Jordi; https://orcid.org/, Lin, C, Phua, Zai Yang, Coin, Lachlan J M, Coin, LJM, Hibberd, ML, Hibberd, Martin L., Wong, TY, Cheng, Ching-Yu, Gemmy Cheung, CM, Cheung, CMIG, Coin, Lachlan JM, Yang Phua, Z, Lin, Clarabelle, Maggi, Jordi, Kumar, V, Cheng, Ching Yu, Maggi, J, Hibberd, Martin L, Coin, Lachlan J.M., Cheung, Chui Ming Gemmy, Davila, Sonia, Wong, Tien Yin   +31 more
core   +1 more source

Copy number variations in female infertility in China

Balkan Journal of Medical Genetics, 2019
Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation ...
Huang W, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang Β   +7 more
doaj   +1 more source

The sociability spectrum: evidence from reciprocal genetic copy number variations

Molecular Autism, 2020
Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species ...
Alejandro López-Tobón, Sebastiano Trattaro, Giuseppe Testa   +2 more
doaj   +1 more source

The variome concept: focus on CNVariome

Molecular Cytogenetics, 2019
Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic ...
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov   +2 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