Results 111 to 120 of about 3,214 (198)
Validated SNPs for eGFR and their associations with albuminuria [PDF]
, 2017 Albuminuria and reduced glomerular filtration rate are manifestations of chronic kidney disease (CKD) that predict end-stage renal disease, acute kidney injury, cardiovascular disease and death.Bochud, Murielle, Böger, Carsten A., Chen, Ming-Huei, de Boer, Ian, Ellis, Jaclyn W., Foster, Meredith C., Fox, Caroline S., Kao, Linda, Köttgen, Anna, Larson, Martin G., Liu, Ching-Ti, O'Seaghdha, Conall M., Parsa, Afshin +12 morecore Extensive admixture and selective pressure across the Sahel Belt [PDF]
, 2015 Genome-wide studies of African populations have the potential to reveal powerful insights into the evolution of our species, as these diverse populations have been exposed to intense selective pressures imposed by infectious diseases, diet, and ...Adeola, Etefa, Etienne Patin, Gurdasani, Lamphear, Lewis, Luisa Pereira, Newman, Oliver-Bever, Patin, Pedro Soares, Petr Triska, Spencer, Teo, UNEP, Veronica Fernandes, Viktor Cerny, WHO +17 morecore +1 more sourceNovel ALMS1 mutations in Chinese patients with Alström syndrome.
Molecular vision, 2014 Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients ...Xiaofang, Liang, Hui, Li, Huajin, Li, Fei, Xu, Fangtian, Dong, Ruifang, Sui +5 moreopenaire +1 more sourceObesidad en la infancia y adolescencia [PDF]
, 2015 En la actualidad, la obesidad se considera un problema
de salud pública mundial dado el aumento de su
prevalencia, su continuidad en la edad adulta, los
cambios en los estilos de vida de la población, la
comorbilidad que se asocia y la baja ...Güemes-Hidalgo, M., Muñoz-Calvo, M. T.core +1 more sourceExpanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F. +12 morecore +1 more sourceUnraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. [PDF]
Mol Genet Genomic Med, 2023 Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA. +12 moreeuropepmc +3 more sourcesIntegration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function [PDF]
, 2017 In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits.Adam, Martin, Andrews, Jeanette S., Aspelund, Thor, Atkinson, Elizabeth J., Aulchenko, Yurii S., Bergmann, Sven, Biffar, Reiner, Boban, Mladen, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid B., Buckley, Brendan M., Böger, Carsten A., Campbell, Harry, Cavalieri, Margherita, Chasman, Daniel I., Chen, Ming-Huei, Chu, Audrey Y., Ciullo, Marina, Coassin, Stefan, Colhoun, Helen, Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., de Andrade, Mariza, Dehghan, Abbas, Demirkan, Ayse, Deshmukh, Harshal, Ding, Jingzhong, Doney, Alex, Eiriksdottir, Gudny, Ellinghaus, David, Endlich, Karlhans, Ernst, Florian, Esko, Tõnu, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Foster, Meredith C., Fox, Caroline S., Franke, Andre, Freedman, Barry I., Fuchsberger, Christian, Gao, Xiaoyi, Gasparini, Paolo, Gieger, Christian, Gierman, Hinco J., Giulianini, Franco, Glazer, Nicole, Gorski, Mathias, Gudnason, Vilmundur, Gyllensten, Ulf, Harris, Tamara B., Hastie, Nick, Haun, Margot, Hayward, Caroline, Heid, Iris M., Helmer, Catherine, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank, Hundertmark, Claudia, Hwang, Shih-Jen, Igl, Wilmar, Illig, Thomas, Imboden, Medea, Isaacs, Aaron, Jacobs, Gunnar, Johansson, Åsa, Johnson, Andrew D., Jukema, J. Wouter, Kao, W.H. Linda, Kardia, Sharon L.R., Ketkar, Shamika, Kim, Stuart K., Koenig, Wolfgang, Kovacs, Peter, Kroemer, Heyo K., Kronenberg, Florian, Krämer, Bernhard K., Kutalik, Zoltan, Kähönen, Mika, Köttgen, Anna, Lambert, Jean-Charles, Launer, Lenore J., Lehtimäki, Terho, Li, Guo, Li, Man, Liu, Ching-Ti, Liu, Yongmei, Lohman, Kurt, Meisinger, Christa, Metspalu, Andres, Minelli, Cosetta, Mitchell, Braxton D., Mitchell, Paul, Murgia, Federico, Mägi, Reedik, Nauck, Matthias, Nikopensius, Tiit, Nöthlings, Ute, O'Connell, Jeffrey R., O'Seaghdha, Conall M., Olden, Matthias, Oostra, Ben A., Palmer, Colin, Parsa, Afshin, Pattaro, Cristian, Paulweber, Bernhard, Pirastu, Mario, Pistis, Giorgio, Polasek, Ozren, Portas, Laura, Pramstaller, Peter P., Probst-Hensch, Nicole M., Prokopenko, Inga, Province, Michael, Raitakari, Olli, Rao, Madhumathi, Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rudan, Igor, Ruggiero, Daniela, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Shuldiner, Alan R., Siscovick, David S., Smith, Albert V., Sorice, Rossella, Stengel, Bénédicte, Stracke, Sylvia, Struchalin, Maksim, Stumvoll, Michael, Taliun, Daniel, Tanaka, Toshiko, Teumer, Alexander, Thun, Gian-Andri, Tin, Adrienne, Toniolo, Daniela, Trompet, Stella, Turner, Stephen T., Tönjes, Anke, Uitterlinden, Andre G., Ulivi, Sheila, van Duijn, Cornelia M., Viikari, Jorma, Vitart, Veronique, Vollenweider, Peter, Völker, Uwe, Völzke, Henry, Wang, Jie Jin, Wheeler, Heather E., Wild, Sarah H., Wilson, James F., Witteman, Jacqueline, Wright, Alan F., Yang, Qiong, Zaboli, Ghazal, Zemunik, Tatijana, Zgaga, Lina +163 morecore Development of refractive errors - what can we learn from inherited retinal dystrophies? [PDF]
, 2017 PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ...Born, L.I. (Ingeborgh) van den, Buitendijk, G.H.S. (Gabrielle), Hendriks, M. (Michelle), Hofman, A. (Albert), Kamermans, M. (Maarten), Klaver, C.C.W. (Caroline), Meester-Smoor, M.A. (Magda), Polling, J.R. (Jan Roelof), Verhoeven, V.J.M. (Virginie) +8 morecore +1 more source
