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Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
Wei, Wei, Keogh, Michael J., Wilson, Ian, Coxhead, Jonathan, Ryan, Sarah, Rollinson, Sara, Griffin, Helen, Kurzawa-Akanbi, Marzena, Santibanez-Koref, Mauro, Talbot, Kevin, Turner, Martin R., McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al Sarraj, Safa, Morris, Christopher M., Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James W., Chinnery, Patrick F
Published in Acta neuropathologica communications (02.02.2017)
Published in Acta neuropathologica communications (02.02.2017)
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Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
Riley, Kacie N., Catalano, Lisa M., Bernat, John A., Adams, Stacie D., Martin, Donna M., Lalani, Seema R., Patel, Ankita, Burnside, Rachel D., Innis, Jeffrey W., Rudd, M. Katharine
Published in American journal of medical genetics. Part A (01.11.2015)
Published in American journal of medical genetics. Part A (01.11.2015)
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A functional copy number variation in the WWOX gene is associated with lung cancer risk in Chinese
Yang, Lei, Liu, Bin, Huang, Binfang, Deng, Jieqiong, Li, Hongbin, Yu, Bolan, Qiu, Fuman, Cheng, Mei, Wang, Hui, Yang, Rongrong, Yang, Xiaorong, Zhou, Yifeng, Lu, Jiachun
Published in Human molecular genetics (01.05.2013)
Published in Human molecular genetics (01.05.2013)
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Mitochondrial DNA Copy Number and Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Risk in Two Prospective Studies
Kim, Christopher, Bassig, Bryan A., Seow, Wei Jie, Hu, Wei, Purdue, Mark P., Huang, Wen-Yi, Liu, Chin-San, Cheng, Wen-Ling, Männistö, Satu, Vermeulen, Roel, Weinstein, Stephanie J., Lim, Unhee, Hosgood, H. Dean, Bonner, Matthew R., Caporaso, Neil E., Albanes, Demetrius, Lan, Qing, Rothman, Nathaniel
Published in Cancer epidemiology, biomarkers & prevention (01.01.2015)
Published in Cancer epidemiology, biomarkers & prevention (01.01.2015)
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Insulinemic Potential of Lifestyle Is Inversely Associated with Leukocyte Mitochondrial DNA Copy Number in US White Adults
Yang, Keming, Forman, Michele R, Monahan, Patrick O, Graham, Brett H, Chan, Andrew T, Zhang, Xuehong, De Vivo, Immaculata, Giovannucci, Edward L, Tabung, Fred K, Nan, Hongmei
Published in The Journal of nutrition (01.08.2020)
Published in The Journal of nutrition (01.08.2020)
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DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family
Zech, Michael, Castrop, Florian, Schormair, Barbara, Jochim, Angela, Wieland, Thomas, Gross, Nadine, Lichtner, Peter, Peters, Annette, Gieger, Christian, Meitinger, Thomas, Strom, Tim M., Oexle, Konrad, Haslinger, Bernhard, Winkelmann, Juliane
Published in Movement disorders (01.10.2014)
Published in Movement disorders (01.10.2014)
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Higher peripheral blood mitochondrial DNA copy number and relative telomere length in under 48 years Indonesian breast cancer patients
Limardi, Prisca C., Panigoro, Sonar Soni, Siregar, Nurjati Chairani, Sutandyo, Noorwati, Witjaksono, Fiastuti, Priliani, Lidwina, Oktavianthi, Sukma, Malik, Safarina G.
Published in BMC research notes (28.04.2024)
Published in BMC research notes (28.04.2024)
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Increased intramyocellular lipid/impaired insulin sensitivity is associated with altered lipid metabolic genes in muscle of high responders to a high-fat diet
Kakehi, Saori, Tamura, Yoshifumi, Takeno, Kageumi, Sakurai, Yuko, Kawaguchi, Minako, Watanabe, Takahiro, Funayama, Takashi, Sato, Fumihiko, Ikeda, Shin-ichi, Kanazawa, Akio, Fujitani, Yoshio, Kawamori, Ryuzo, Watada, Hirotaka
Published in American journal of physiology: endocrinology and metabolism (01.01.2016)
Published in American journal of physiology: endocrinology and metabolism (01.01.2016)
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On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients
Sala Frigerio, Carlo, Lau, Pierre, Troakes, Claire, Deramecourt, Vincent, Gele, Patrick, Van Loo, Peter, Voet, Thierry, De Strooper, Bart
Published in Alzheimer's & dementia (01.11.2015)
Published in Alzheimer's & dementia (01.11.2015)
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MCKAT: a multi-dimensional copy number variant kernel association test
Maus Esfahani, Nastaran, Catchpoole, Daniel, Khan, Javed, Kennedy, Paul J.
Published in BMC bioinformatics (11.12.2021)
Published in BMC bioinformatics (11.12.2021)
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine- Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.
Published in Human genetics (01.03.2016)
Published in Human genetics (01.03.2016)
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Glutamatergic copy number variants and their role in attention-deficit/hyperactivity disorder
Akutagava-Martins, Glaucia Chiyoko, Salatino-Oliveira, Angelica, Genro, Julia P., Contini, Verônica, Polanczyk, Guilherme, Zeni, Cristian, Chazan, Rodrigo, Kieling, Christian, Anselmi, Luciana, Menezes, Ana M. B., Grevet, Eugênio H., Bau, Claiton H. D., Rohde, Luis A., Hutz, Mara H.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2014)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2014)
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Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus
O'Hora, Kathleen P., Kushan‐Wells, Leila, Schleifer, Charles H., Cruz, Shayne, Hoftman, Gil D., Jalbrzikowski, Maria, Gur, Raquel E., Gur, Ruben C., Bearden, Carrie E.
Published in Autism research (01.12.2023)
Published in Autism research (01.12.2023)
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Peripheral blood mitochondrial DNA copy number as a predictor of steatotic liver disease development: insights from epidemiological and experimental studies
Mizuno, Genki, Teshigawara, Atsushi, Yamada, Hiroya, Munetsuna, Eiji, Tsuboi, Yoshiki, Hattori, Yuji, Yamazaki, Mirai, Ando, Yoshitaka, Kageyama, Itsuki, Wakasugi, Takuya, Ichino, Naohiro, Osakabe, Keisuke, Sugimoto, Keiko, Fujii, Ryosuke, Ishikawa, Hiroaki, Ohgami, Nobutaka, Ohashi, Koji, Suzuki, Koji
Published in Environmental health and preventive medicine (01.01.2025)
Published in Environmental health and preventive medicine (01.01.2025)
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Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects
Carey, Abigail S., Liang, Li, Edwards, Jonathan, Brandt, Tracy, Mei, Hui, Sharp, Andrew J., Hsu, Daphne T., Newburger, Jane W., Ohye, Richard G., Chung, Wendy K., Russell, Mark W., Rosenfeld, Jill A., Shaffer, Lisa G., Parides, Michael K., Edelmann, Lisa, Gelb, Bruce D.
Published in Circulation. Cardiovascular genetics (01.10.2013)
Published in Circulation. Cardiovascular genetics (01.10.2013)
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Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients
Buizer-Voskamp, Jacobine E., Muntjewerff, Jan-Willem, Strengman, Eric, Sabatti, Chiara, Stefansson, Hreinn, Vorstman, Jacob A.S., Ophoff, Roel A.
Published in Biological psychiatry (1969) (01.10.2011)
Published in Biological psychiatry (1969) (01.10.2011)
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Impact of Allele Copy Number of Polymorphisms in FCGR3A and FCGR3B Genes on Susceptibility to Ulcerative Colitis
Asano, Kouichi, Matsumoto, Takayuki, Umeno, Junji, Hirano, Atsushi, Esaki, Motohiro, Hosono, Naoya, Matsui, Toshiyuki, Kiyohara, Yutaka, Nakamura, Yusuke, Kubo, Michiaki, Kitazono, Takanari
Published in Inflammatory bowel diseases (01.09.2013)
Published in Inflammatory bowel diseases (01.09.2013)
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Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
Bianco, Angelica, Valletti, Alessio, Longo, Giovanna, Bisceglia, Luigi, Montoya, Julio, Emperador, Sonia, Guerriero, Silvana, Petruzzella, Vittoria
Published in BMC research notes (20.12.2018)
Published in BMC research notes (20.12.2018)
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A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases
Glessner, Joseph T., Bradfield, Jonathan P., Wang, Kai, Takahashi, Nagahide, Zhang, Haitao, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Hou, Cuiping, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Zhao, Jianhua, Chiavacci, Rosetta M., Li, Mingyao, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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