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Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone
Xie, Xiaorui, Su, Linjuan, Li, Ying, Shen, Qingmei, Wang, Meiying, Wu, Xiaoqing
Published in Archives of gynecology and obstetrics (01.06.2024)
Published in Archives of gynecology and obstetrics (01.06.2024)
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Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase
Salvi, Erika, Kutalik, Zoltán, Glorioso, Nicola, Benaglio, Paola, Frau, Francesca, Kuznetsova, Tatiana, Arima, Hisatomi, Hoggart, Clive, Tichet, Jean, Nikitin, Yury P., Conti, Costanza, Seidlerova, Jitka, Tikhonoff, Valérie, Stolarz-Skrzypek, Katarzyna, Johnson, Toby, Devos, Nabila, Zagato, Laura, Guarrera, Simonetta, Zaninello, Roberta, Calabria, Andrea, Stancanelli, Benedetta, Troffa, Chiara, Thijs, Lutgarde, Rizzi, Federica, Simonova, Galina, Lupoli, Sara, Argiolas, Giuseppe, Braga, Daniele, DʼAlessio, Maria C., Ortu, Maria F., Ricceri, Fulvio, Mercurio, Maurizio, Descombes, Patrick, Marconi, Maurizio, Chalmers, John, Harrap, Stephen, Filipovsky, Jan, Bochud, Murielle, Iacoviello, Licia, Ellis, Justine, Stanton, Alice V., Laan, Maris, Padmanabhan, Sandosh, Dominiczak, Anna F., Samani, Nilesh J., Melander, Olle, Jeunemaitre, Xavier, Manunta, Paolo, Shabo, Amnon, Vineis, Paolo, Cappuccio, Francesco P., Caulfield, Mark J., Matullo, Giuseppe, Rivolta, Carlo, Munroe, Patricia B., Barlassina, Cristina, Staessen, Jan A., Beckmann, Jacques S., Cusi, Daniele
Published in Hypertension (Dallas, Tex. 1979) (01.02.2012)
Published in Hypertension (Dallas, Tex. 1979) (01.02.2012)
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Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience
Liang, Bin, Yu, Donghong, Zhao, Wantong, Wang, Yan, Wu, Xiaoqing, Chen, Lingji, Lin, Na, Huang, Hailong, Xu, Liangpu
Published in BMC medical genomics (21.12.2022)
Published in BMC medical genomics (21.12.2022)
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Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array
Takahashi, Hiroki, Usui, Yoshihiko, Ueda, Shunichiro, Yamakawa, Naoyuki, Sato-Otsubo, Aiko, Sato, Yusuke, Ogawa, Seishi, Goto, Hiroshi
Published in Investigative ophthalmology & visual science (01.06.2015)
Published in Investigative ophthalmology & visual science (01.06.2015)
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Single Nucleotide Polymorphism Array (SNP-A) Karyotype Is the Best Predictor of Prognosis In Normal Cytogenetics Acute Myeloid Leukaemia (AML)
Mohamedali, Azim M, Hills, Robert K, Nasser, Erick E, Abdallah, Atiyeh, Shinde, Sneha, Kulasekararaj, Austin G, Gilkes, Amanda, Lea, Nicholas, Burnett, Alan K, Mufti, Ghulam J.
Published in Blood (18.11.2011)
Published in Blood (18.11.2011)
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High-throughput molecular analysis of urine sediment for the detection of bladder cancer by high-density single-nucleotide polymorphism array
MOHAMMAD OBAIDUL HOQUE, LEE, Juna, BEGUM, Shahnaz, YAMASHITA, Keishi, ENGLES, James M, SCHOENBERG, Mark, WESTRA, William H, SIDRANSKY, David
Published in Cancer research (Chicago, Ill.) (15.09.2003)
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Published in Cancer research (Chicago, Ill.) (15.09.2003)
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Single Nucleotide Polymorphism Array (SNP-A) Genomic Profiling of Mantle Cell Lymphoma (MCL) Against a Large Control Database Reveals Recurring Copy Number Alterations (CNAs) and Copy Neutral Loss of Heterozygosity (CN-LOH)
Rauh, Michael J., Bodo, Juraj, Hsi, Eric, Richendollar, Bill, Sugimoto, Yuka, Maciejewski, Jaroslaw P, O'Keefe, Christine L., Smith, Stephen D.
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
Xie, Xiaorui, Huang, Baojia, Su, Linjuan, Cai, Meiying, Chen, Yuqin, Wu, Xiaoqing, Xu, Liangpu
Published in BMC medical genomics (20.11.2023)
Published in BMC medical genomics (20.11.2023)
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Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
Wu, Xiaoqing, He, Shuqiong, Li, Ying, Guo, Danhua, Chen, Xuemei, Liang, Bin, Wang, Meiying, Huang, Hailong, Xu, Liangpu
Published in BMC pregnancy and childbirth (26.01.2023)
Published in BMC pregnancy and childbirth (26.01.2023)
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Subchromosomal anomalies in small for gestational-age fetuses and newborns
Ma, Ying, Pei, Yan, Yin, Chenghong, Jiang, Yuxin, Wang, Jingjing, Li, Xiaofei, Li, Lin, Kagan, Karl Oliver, Wu, Qingqing
Published in Archives of gynecology and obstetrics (01.09.2019)
Published in Archives of gynecology and obstetrics (01.09.2019)
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Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array
Kim, H.-J., Kim, D.-K., Yoo, K.-Y., You, C.-W., Yoo, J.-H., Lee, K.-O., Park, I.-A., Choung, H.-S., Song, M.-J., Kim, S.-H.
Published in Haematologica (Roma) (01.02.2012)
Published in Haematologica (Roma) (01.02.2012)
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Genome-wide association study of milk fatty acid composition in Italian Simmental and Italian Holstein cows using single nucleotide polymorphism arrays
Palombo, V., Milanesi, M., Sgorlon, S., Capomaccio, S., Mele, M., Nicolazzi, E., Ajmone-Marsan, P., Pilla, F., Stefanon, B., D'Andrea, M.
Published in Journal of dairy science (01.12.2018)
Published in Journal of dairy science (01.12.2018)
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Higher chromosomal aberration rate in miscarried conceptus from polycystic ovary syndrome women undergoing assisted reproductive treatment
Li, Ying, Wang, Linlin, Xu, Jiawei, Niu, Wenbin, Shi, Hao, Hu, Linli, Zhang, Yile, Zhang, Meixiang, Bao, Xiao, Zhang, Nan, Sun, Yingpu
Published in Fertility and sterility (01.05.2019)
Published in Fertility and sterility (01.05.2019)
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Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
Rouen, Alexandre, Rogers, Eli, Kerlan, Véronique, Delemer, Brigitte, Catteau-Jonard, Sophie, Reznik, Yves, Gompel, Anne, Cedrin, Isabelle, Guedj, Anne-Marie, Grouthier, Virginie, Brue, Thierry, Pienkowski, Catherine, Bachelot, Anne, Chantot-Bastaraud, Sandra, Rousseau, Alexandra, Simon, Tabassome, Kott, Esther, Siffroi, Jean-Pierre, Touraine, Philippe, Christin-Maitre, Sophie
Published in Fertility and sterility (01.04.2022)
Published in Fertility and sterility (01.04.2022)
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Unique genetic profile of sporadic colorectal cancer liver metastasis versus primary tumors as defined by high-density single-nucleotide polymorphism arrays
Muñoz-Bellvis, Luís, Fontanillo, Celia, González-González, María, Garcia, Eva, Iglesias, Manuel, Esteban, Carmen, Gutierrez, M L, Abad, M M, Bengoechea, Oscar, De Las Rivas, Javier, Orfao, Alberto, Sayagués, J M
Published in Modern pathology (01.04.2012)
Published in Modern pathology (01.04.2012)
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Somatic mutations affect key pathways in lung adenocarcinoma
Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, Sougnez, Carrie, Greulich, Heidi, Muzny, Donna M., Morgan, Margaret B., Fulton, Lucinda, Fulton, Robert S., Zhang, Qunyuan, Wendl, Michael C., Lawrence, Michael S., Larson, David E., Chen, Ken, Dooling, David J., Sabo, Aniko, Hawes, Alicia C., Shen, Hua, Jhangiani, Shalini N., Lewis, Lora R., Hall, Otis, Zhu, Yiming, Mathew, Tittu, Ren, Yanru, Yao, Jiqiang, Scherer, Steven E., Clerc, Kerstin, Metcalf, Ginger A., Ng, Brian, Milosavljevic, Aleksandar, Gonzalez-Garay, Manuel L., Osborne, John R., Meyer, Rick, Shi, Xiaoqi, Tang, Yuzhu, Koboldt, Daniel C., Lin, Ling, Abbott, Rachel, Miner, Tracie L., Pohl, Craig, Fewell, Ginger, Haipek, Carrie, Schmidt, Heather, Dunford-Shore, Brian H., Kraja, Aldi, Crosby, Seth D., Sawyer, Christopher S., Vickery, Tammi, Sander, Sacha, Robinson, Jody, Winckler, Wendy, Baldwin, Jennifer, Chirieac, Lucian R., Dutt, Amit, Fennell, Tim, Hanna, Megan, Johnson, Bruce E., Onofrio, Robert C., Thomas, Roman K., Tonon, Giovanni, Weir, Barbara A., Zhao, Xiaojun, Ziaugra, Liuda, Zody, Michael C., Giordano, Thomas, Orringer, Mark B., Roth, Jack A., Spitz, Margaret R., Wistuba, Ignacio I., Ozenberger, Bradley, Good, Peter J., Chang, Andrew C., Beer, David G., Watson, Mark A., Ladanyi, Marc, Broderick, Stephen, Yoshizawa, Akihiko, Travis, William D., Pao, William, Province, Michael A., Weinstock, George M., Varmus, Harold E., Gabriel, Stacey B., Lander, Eric S., Gibbs, Richard A., Meyerson, Matthew, Wilson, Richard K.
Published in Nature (23.10.2008)
Published in Nature (23.10.2008)
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Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report
Amélie, Buisine‐Sbraggia, Julien, Thevenon, Kevin, Yauy, Marie‐Emmanuelle, Naud, Jean‐Marc, Costa, Fanny, Dubois‐Teklali, Marjolaine, Willems, Klaus, Dieterich, Véronique, Satre, Charles, Coutton, Tanno, Pauline Le
Published in American journal of medical genetics. Part A (01.03.2025)
Published in American journal of medical genetics. Part A (01.03.2025)
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Genetic architecture of asthma in African American patients
Chang, Xiao, March, Michael, Mentch, Frank, Qu, Huiqi, Liu, Yichuan, Glessner, Joseph, Sleiman, Patrick, Hakonarson, Hakon
Published in Journal of allergy and clinical immunology (01.04.2023)
Published in Journal of allergy and clinical immunology (01.04.2023)
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QTL mapping reveals both all-stage and adult-plant resistance to powdery mildew in Chinese elite wheat cultivars
Xu, Xiaoting, Ni, Zhongqiu, Zou, Xinyu, Zhang, Yelun, Tong, Jingyang, Xu, Xiaowan, Dong, Yachao, Han, Bin, Li, Simin, Wang, Desen, Xia, Xianchun, He, Zhonghu, Hao, Yuanfeng
Published in Plant disease (01.10.2023)
Published in Plant disease (01.10.2023)
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