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Marked Alteration of Rosuvastatin Pharmacokinetics in Healthy Chinese with ABCG2 34G>A and 421C>A Homozygote or Compound Heterozygote
Wan, Zirui, Wang, Guo, Li, Tailin, Xu, Biaobo, Pei, Qi, Peng, Yan, Sun, Hong, Cheng, Lijuan, Zeng, Ying, Yang, Guoping, Zhu, Yuan-Shan
Published in The Journal of pharmacology and experimental therapeutics (01.09.2015)
Published in The Journal of pharmacology and experimental therapeutics (01.09.2015)
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Journal Article
Vascular Calcifications in Homozygote Familial Hypercholesterolemia
Awan, Z, Alrasadi, K, Francis, G A., Hegele, R A., McPherson, R, Frohlich, J, Valenti, D, de Varennes, B, Marcil, M, Gagne, C, Genest, J, Couture, P
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2008)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2008)
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Journal Article
Longitudinal progression of choroid plexus enlargement is associated with female sex, cognitive decline and ApoE E4 homozygote status
Novakova Martinkova, Julie, Ferretti, Maria Teresa, Ferrari, Alberto, Lerch, Ondrej, Matuskova, Veronika, Secnik, Juraj, Hort, Jakub
Published in Frontiers in psychiatry (2023)
Published in Frontiers in psychiatry (2023)
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Journal Article
Évaluation de l’épaisseur maculaire chez le sujet drépanocytaire homozygote SS à la tomographie par cohérence optique à Yaoundé
Sina, K.D., Nanfack, N.C., Chetcha, B., Nguepi, M.G., Nguepnang, V., Kagmeni, G., Domngang, N.C.
Published in Journal français d'ophtalmologie (01.05.2025)
Published in Journal français d'ophtalmologie (01.05.2025)
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Journal Article
The proteostatic network chaperome is downregulated in F508del homozygote cystic fibrosis
Sala, Marc A., Alexander, Michael, Khuder, Basil, Politanska, Yuliya, Abdala-Valencia, Hiam, Budinger, G.R. Scott, Liu, Jing, Jain, Manu, Reyfman, Paul A.
Published in Journal of cystic fibrosis (01.03.2021)
Published in Journal of cystic fibrosis (01.03.2021)
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Journal Article
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
Clancy, J P, Rowe, Steven M, Accurso, Frank J, Aitken, Moira L, Amin, Raouf S, Ashlock, Melissa A, Ballmann, Manfred, Boyle, Michael P, Bronsveld, Inez, Campbell, Preston W, De Boeck, Kris, Donaldson, Scott H, Dorkin, Henry L, Dunitz, Jordan M, Durie, Peter R, Jain, Manu, Leonard, Anissa, McCoy, Karen S, Moss, Richard B, Pilewski, Joseph M, Rosenbluth, Daniel B, Rubenstein, Ronald C, Schechter, Michael S, Botfield, Martyn, Ordoñez, Claudia L, Spencer-Green, George T, Vernillet, Laurent, Wisseh, Steve, Yen, Karl, Konstan, Michael W
Published in Thorax (01.01.2012)
Published in Thorax (01.01.2012)
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Journal Article
Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy
Raal, Frederick J., Pilcher, Gillian J., Panz, Vanessa R., van Deventer, Hendrick E., Brice, Brigitte C., Blom, Dirk J., Marais, A. David
Published in Circulation (New York, N.Y.) (15.11.2011)
Published in Circulation (New York, N.Y.) (15.11.2011)
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Journal Article
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype
Stanaway, Ian B., Hall, Taryn O., Rosenthal, Elisabeth A., Palmer, Melody, Naranbhai, Vivek, Knevel, Rachel, Namjou‐Khales, Bahram, Carroll, Robert J., Kiryluk, Krzysztof, Gordon, Adam S., Linder, Jodell, Howell, Kayla Marie, Mapes, Brandy M., Lin, Frederick T.J., Joo, Yoonjung Yoonie, Hayes, M. Geoffrey, Gharavi, Ali G., Pendergrass, Sarah A., Ritchie, Marylyn D., Andrade, Mariza, Croteau‐Chonka, Damien C., Raychaudhuri, Soumya, Weiss, Scott T., Lebo, Matt, Amr, Sami S., Carrell, David, Larson, Eric B., Chute, Christopher G., Rasmussen‐Torvik, Laura Jarmila, Roy‐Puckelwartz, Megan J., Sleiman, Patrick, Hakonarson, Hakon, Li, Rongling, Karlson, Elizabeth W., Peterson, Josh F., Kullo, Iftikhar J., Chisholm, Rex, Denny, Joshua Charles, Jarvik, Gail P., Crosslin, David R.
Published in Genetic epidemiology (01.02.2019)
Published in Genetic epidemiology (01.02.2019)
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Journal Article
Homozygote drepanocytosis: Ferric status and inflammation in world and Africa: Review article and meta analysis
Tuono De Manfouo, Romaric, Louokdom, Josué Simo, Chetcha, Bernard Claude, Nya, Prosper Cabral Biapa, Pieme, Constant Anatole, Tagny, Claude Tayou
Published in Health science reports (01.10.2023)
Published in Health science reports (01.10.2023)
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Journal Article
Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects
Hulot, Jean-Sébastien, Bura, Alessandra, Villard, Eric, Azizi, Michel, Remones, Véronique, Goyenvalle, Catherine, Aiach, Martine, Lechat, Philippe, Gaussem, Pascale
Published in Blood (01.10.2006)
Published in Blood (01.10.2006)
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Journal Article
Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency
Mao, Fengfeng, Liu, Teng, Hou, Xinfeng, Zhao, Hanqing, He, Wenhui, Li, Cong, Jing, Zhiyi, Sui, Jianhua, Wang, Fengchao, Liu, Xiaohui, Han, Jun, Borchers, Christoph H., Wang, Jian-She, Li, Wenhui
Published in The Journal of biological chemistry (02.08.2019)
Published in The Journal of biological chemistry (02.08.2019)
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Journal Article
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
Minicocci, Ilenia, Santini, Sara, Cantisani, Vito, Stitziel, Nathan, Kathiresan, Sekar, Arroyo, Juan Antonio, Martí, Gertrudis, Pisciotta, Livia, Noto, Davide, Cefalù, Angelo B., Maranghi, Marianna, Labbadia, Giancarlo, Pigna, Giovanni, Pannozzo, Fabio, Ceci, Fabrizio, Ciociola, Ester, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Arca, Marcello
Published in Journal of lipid research (01.12.2013)
Published in Journal of lipid research (01.12.2013)
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Journal Article
The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote
Sinden, Nicola Jane, Koura, Firas, Stockley, Robert Andrew
Published in BMC pulmonary medicine (07.08.2014)
Published in BMC pulmonary medicine (07.08.2014)
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Journal Article
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Jensen, Synnøve M., Müller, Kai Ivar, Mellgren, Svein Ivar, Bindoff, Laurence A., Rasmussen, Magnhild, Ørstavik, Kristin, Jonsrud, Christoffer, Tveten, Kristian, Nilssen, Øivind, Van Ghelue, Marijke, Arntzen, Kjell Arne
Published in Neuromuscular disorders : NMD (01.02.2023)
Published in Neuromuscular disorders : NMD (01.02.2023)
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Journal Article
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
Xu, Xin, Wang, Amy Q., Latham, Lea L., Celeste, Frank, Ciccone, Carla, Malicdan, May Christine, Goldspiel, Barry, Terse, Pramod, Cradock, James, Yang, Nora, Yorke, Selwyn, McKew, John C., Gahl, William A., Huizing, Marjan, Carrillo, Nuria
Published in Molecular genetics and metabolism (01.09.2017)
Published in Molecular genetics and metabolism (01.09.2017)
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Journal Article
CLOCK gene variation is associated with incidence of type-2 diabetes and cardiovascular diseases in type-2 diabetic subjects: dietary modulation in the PREDIMED randomized trial
Corella, Dolores, Asensio, Eva. M., Coltell, Oscar, Sorlí, José V., Estruch, Ramón, Martínez-González, Miguel Ángel, Salas-Salvadó, Jordi, Castañer, Olga, Arós, Fernando, Lapetra, José, Serra-Majem, Lluís, Gómez-Gracia, Enrique, Ortega-Azorín, Carolina, Fiol, Miquel, Espino, Javier Díez, Díaz-López, Andrés, Fitó, Montserrat, Ros, Emilio, Ordovás, José M.
Published in Cardiovascular diabetology (07.01.2016)
Published in Cardiovascular diabetology (07.01.2016)
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Journal Article
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants
Chen, Wen-xia, Huang, Yue, Yang, Xiao-lin, Duan, Bo, Lu, Ping, Wang, Yan, Xu, Zheng-min
Published in International journal of pediatric otorhinolaryngology (01.05.2016)
Published in International journal of pediatric otorhinolaryngology (01.05.2016)
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Journal Article
The Impact of MIR137 on Dorsolateral Prefrontal–Hippocampal Functional Connectivity in Healthy Subjects
Liu, Bing, Zhang, Xiaolong, Hou, Bing, Li, Jin, Qiu, Chengxiang, Qin, Wen, Yu, Chunshui, Jiang, Tianzi
Published in Neuropsychopharmacology (New York, N.Y.) (01.08.2014)
Published in Neuropsychopharmacology (New York, N.Y.) (01.08.2014)
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Journal Article