Results 41 to 50 of about 502,320 (296)

Copy Number Variants in Four Italian Turkey Breeds

Animals, 2021
Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement
Maria Giuseppina Strillacci, Stefano Paolo Marelli, Raffaella Milanesi, Luisa Zaniboni, Chiara Punturiero, Silvia Cerolini   +5 more
doaj   +1 more source

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency [PDF]

, 2014
Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age.
Calvo, Sarah E, Hershman, Steven G, Lieber, Daniel S, Mootha, Vamsi K, Schmahmann, Jeremy D, Sims, Katherine B, Slate, Nancy G   +6 more
core   +3 more sources

Copy number variants in Ebstein anomaly

PLOS ONE, 2017
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component.We performed a ...
Andreas Giannakou, Robert J. Sicko, Wei Zhang, Paul Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Laura Jelliffe-Pawlowski, Gary M. Shaw, Denise M. Kay, James L. Mills   +10 more
openaire   +4 more sources

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. [PDF]

, 2020
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.
Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hellard, Stephanie Le, Hibar, Derrek P, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Håberg, Asta, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Leu, Costin, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Martin-Brevet, Sandra, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Mühleisen, Thomas W, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Sønderby, Ida E   +99 more
core   +1 more source

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population [PDF]

, 2015
Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD).
Bailin Wu, Chenxia Nie, Feng Zhang, Guoying Huang, Hongyan Wang, Jia Hou, Li Li, Wenyuan Duan, Xiaoli Chen, Yiming Wu, Yiping Shen, Yonghao Gui, Yu An   +12 more
core   +1 more source

A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence [PDF]

, 2016
Cocaine dependence is a complex psychiatric disorder involving both genetic and environmental factors. Several neurotransmitter systems mediate cocaine's effects, dependence and relapse, being the components of the neurotransmitter release machinery good
Abad, Alfonso C., Arenas Solà, Concepción, Barral, Carmen, Cabana Domínguez, Judit, Casas, Miquel, Cormand Rifà, Bru, Erikson, Galina, Fernàndez Castillo, Noèlia, Grau-López, Lara, Ribasés Haro, Marta, Rodríguez-Cintas, Laia, Roncero, Carlos, Torrico Avilés, Bàrbara, Wineinger, Nathan E   +13 more
core   +2 more sources

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]

, 2020
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana, Araya, Carmen, Araya, Xinia, Bearden, Carrie E, Bedoya, Gabriel, Bejarano, Julio, Cantor, Rita M, Castrillón, Gabriel, Coppola, Giovanni, Escobar, Javier I, Fears, Scott C, Freimer, Nelson B, Gomez-Makhinson, Juliana, Huang, Alden Y, Hwang, Sun-Goo, Kremeyer, Barbara, Lopez, Maria C, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Montoya, Claudia P, Montoya, Gabriel, Mullins, Niamh, Olde Loohuis, Loes M, Ophoff, Roel A, Ori, Anil PS, Ospina-Duque, Jorge, Park, YoungJun, Ramensky, Vasily, Ramirez, Margarita, Reus, Victor, Ruiz-Linares, Andres, Sabatti, Chiara, Service, Susan K, Spesny, Mitzi, Sul, Jae Hoon, Teshiba, Terri M, Zhang, Zhongyang   +37 more
core   +3 more sources

Penetrance for copy number variants associated with schizophrenia [PDF]

Human Molecular Genetics, 2010
The discovery of 'high-risk' de novo copy number variants (CNVs) associated with neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these findings into useful tools for clinical geneticists. However, this will require estimation of penetrance for these variants, which has not yet been properly considered. To facilitate
Vassos, Evangelos, Collier, David A., Holden, Simon, Patch, Christine, Rujescu, Dan, St Clair, David, Lewis, Cathryn M.   +6 more
openaire   +3 more sources

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

BMC Medical Genomics, 2018
Background Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations.
Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty, Dale Muzzey   +4 more
doaj   +1 more source

Extensive Genetic Diversity and Substructuring Among Zebrafish Strains Revealed through Copy Number Variant Analysis [PDF]

, 2014
Copy number variants (CNVs) represent a substantial source of genomic variation in vertebrates and have been associated with numerous human diseases. Despite this, the extent of CNVs in the zebrafish, an important model for human disease, remains unknown.
Brown, Kim, Chen, Jin Yun Helen, Chong, Wilson W. S., Choy, Kwong Wai, David, Sthuthi, Dobrinski, Kimberly P., Freeman, Jennifer L., Gokcumen, Omer, Lee, Arthur S., Lee, Charles, Mills, Ryan, Peterson, Samuel M., Raj, Towfique, Shi, Xinghua, Stranger, Barbara, Williamson, Robin E., Yoo, Paulo, Zon, Leonard Ira   +17 more
core   +1 more source