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An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in China
Luo, Yanmei, Hu, Huamei, Zhang, Rong, Ma, Yongyi, Pan, Yan, Long, Yang, Hu, Bin, Yao, Hong, Liang, Zhiqing
Published in The journal of gene medicine (01.09.2021)
Published in The journal of gene medicine (01.09.2021)
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Methylation of Promoters of Apoptosis-Related Genes in Blood Lymphocytes of Workers Exposed to Occupational External Irradiation
Isubakova, D. S., Tsymbal, O. S., Bronikovskaya, E. V., Litviakov, N. V., Milto, I. V., Takhauov, R. М.
Published in Bulletin of experimental biology and medicine (01.07.2021)
Published in Bulletin of experimental biology and medicine (01.07.2021)
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Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma
Arseneault, Madeleine, Monlong, Jean, Vasudev, Naveen S., Laskar, Ruhina S., Safisamghabadi, Maryam, Harnden, Patricia, Egevad, Lars, Nourbehesht, Nazanin, Panichnantakul, Pudchalaluck, Holcatova, Ivana, Brisuda, Antonin, Janout, Vladimir, Kollarova, Helena, Foretova, Lenka, Navratilova, Marie, Mates, Dana, Jinga, Viorel, Zaridze, David, Mukeria, Anush, Jandaghi, Pouria, Brennan, Paul, Brazma, Alvis, Tost, Jorg, Scelo, Ghislaine, Banks, Rosamonde E., Lathrop, Mark, Bourque, Guillaume, Riazalhosseini, Yasser
Published in Scientific reports (23.03.2017)
Published in Scientific reports (23.03.2017)
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Nguyen, Karine, Puppo, Francesca, Roche, Stéphane, Gaillard, Marie‐Cécile, Chaix, Charlène, Lagarde, Arnaud, Pierret, Marjorie, Vovan, Catherine, Olschwang, Sylviane, Salort‐Campana, Emmanuelle, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaëlle, Magdinier, Frédérique, Levy, Nicolas
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene
Gray, Juliette, Yeo, Giles S.H., Cox, James J., Morton, Jenny, Adlam, Anna-Lynne R., Keogh, Julia M., Yanovski, Jack A., El Gharbawy, Areeg, Han, Joan C., Tung, Y.C. Loraine, Hodges, John R., Raymond, F. Lucy, O’Rahilly, Stephen, Farooqi, I. Sadaf
Published in Diabetes (New York, N.Y.) (01.12.2006)
Published in Diabetes (New York, N.Y.) (01.12.2006)
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Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential
Luongo, Francesca Paola, Annunzi, Eugenia, Girolamo, Francesca, Belmonte, Giuseppe, Ponchia, Rosetta, Piomboni, Paola, Luddi, Alice
Published in Journal of assisted reproduction and genetics (01.10.2024)
Published in Journal of assisted reproduction and genetics (01.10.2024)
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Semen Abnormalities, Sperm DNA Damage and Global Hypermethylation in Health Workers Occupationally Exposed to Ionizing Radiation
Kumar, Dayanidhi, Salian, Sujith Raj, Kalthur, Guruprasad, Uppangala, Shubhashree, Kumari, Sandhya, Challapalli, Srinivas, Chandraguthi, Srinidhi Gururajarao, Krishnamurthy, Hanumanthappa, Jain, Navya, Kumar, Pratap, Adiga, Satish Kumar
Published in PloS one (29.07.2013)
Published in PloS one (29.07.2013)
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Genotoxicity of carbon tetrachloride and the protective role of essential oil of Salvia officinalis L. in mice using chromosomal aberration, micronuclei formation, and comet assay
Diab, Kawthar AE, Fahmy, Maha A., Hassan, Zeinab M., Hassan, Emad M., Salama, Adel B., Omara, Enayat A.
Published in Environmental science and pollution research international (01.01.2018)
Published in Environmental science and pollution research international (01.01.2018)
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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M.B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
Published in American journal of human genetics (01.04.2007)
Published in American journal of human genetics (01.04.2007)
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84 RARE COPY NUMBER VARIANTS IN CONGENITAL HEART DEFECTS
Davidović, Maša, Pohovski, Leona Morožin, Rogulj, Nikolina Vidan, Sansovic, Ivona, Bobinec, Adriana, Meašić, Ana-Maria, Kero, Mijana, Boban, Ljubica, Malčić, Ivan, Barišic, Ingeborg
Published in Archives of disease in childhood (01.10.2021)
Published in Archives of disease in childhood (01.10.2021)
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Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder
Christian, Susan L., Brune, Camille W., Sudi, Jyotsna, Kumar, Ravinesh A., Liu, Shaung, Karamohamed, Samer, Badner, Judith A., Matsui, Seiichi, Conroy, Jeffrey, McQuaid, Devin, Gergel, James, Hatchwell, Eli, Gilliam, T. Conrad, Gershon, Elliot S., Nowak, Norma J., Dobyns, William B., Cook, Edwin H.
Published in Biological psychiatry (1969) (15.06.2008)
Published in Biological psychiatry (1969) (15.06.2008)
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Outdoor air pollution and mosaic loss of chromosome Y in older men from the Cardiovascular Health Study
Wong, Jason Y.Y., Margolis, Helene G., Machiela, Mitchell, Zhou, Weiyin, Odden, Michelle C., Psaty, Bruce M., Robbins, John, Jones, Rena R., Rotter, Jerome I., Chanock, Stephen J., Rothman, Nathaniel, Lan, Qing, Lee, Jennifer S.
Published in Environment international (01.07.2018)
Published in Environment international (01.07.2018)
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Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity
Madeo, Simona Filomena, Stanghellini, Ilaria, Predieri, Barbara, Ciancia, Silvia, Leo, Francesco, Bruzzi, Patrizia, Calabrese, Olga, Iughetti, Lorenzo
Published in Hormone research in paediatrics (2021)
Published in Hormone research in paediatrics (2021)
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Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions
Xi, Qi, Zhang, Zhihong, Wang, Ruixue, Li, Linlin, Li, Leilei, Zhu, Haibo, Liu, Ruizhi, Luo, Lili
Published in Medicine (Baltimore) (01.10.2019)
Published in Medicine (Baltimore) (01.10.2019)
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A study protocol for the evaluation of occupational mutagenic/carcinogenic risks in subjects exposed to antineoplastic drugs: a multicentric project
Moretti, Massimo, Bonfiglioli, Roberta, Feretti, Donatella, Pavanello, Sofia, Mussi, Francesca, Grollino, Maria G, Villarini, Milena, Barbieri, Anna, Ceretti, Elisabetta, Carrieri, Mariella, Buschini, Annamaria, Appolloni, Massimo, Dominici, Luca, Sabatini, Laura, Gelatti, Umberto, Bartolucci, Giovanni B, Poli, Paola, Stronati, Laura, Mastrangelo, Giuseppe, Monarca, Silvano
Published in BMC public health (30.03.2011)
Published in BMC public health (30.03.2011)
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Predicting chromosome damage in astronauts participating in international space station missions
Feiveson, Alan, George, Kerry, Shavers, Mark, Moreno-Villanueva, Maria, Zhang, Ye, Babiak-Vazquez, Adriana, Crucian, Brian, Semones, Edward, Wu, Honglu
Published in Scientific reports (05.03.2021)
Published in Scientific reports (05.03.2021)
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The Influence of Blood Titanium Levels on DNA Damage in Brazilian Workers Occupationally Exposed to Different Chemical Agents: The Influence of Blood Titanium Levels on DNA Damage in Brazilian Workers Occupationally Exposed to Different Chemical Agents
Moro, Angela M., Brucker, Natália, Goethel, Gabriela, Flesch, Ingrid, Nascimento, Sabrina, Charão, Mariele, Gauer, Bruna, Sauer, Elisa, Cestonaro, Larissa V., Viçozzi, Gabriel Pedroso, Gioda, Adriana, Saint’Pierre, Tatiana D., Arbo, Marcelo D., Garcia, Ingrid, Cattani, Shanda A., Petrecelli, Rodrigo R., Martins, Mirkos Ortiz, Garcia, Solange Cristina
Published in Biological trace element research (01.08.2025)
Published in Biological trace element research (01.08.2025)
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