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1 |
Material Type: Artigo
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Cardiovascular Consequences of New-Onset Hyperglycemia After Kidney TransplantationWAUTERS, Rianne P ; COSIO, Fernando G ; FERNANDEZ, Maria L. Suarez ; KUDVA, Yogish ; SAH, Pankaj ; TORRES, Vicente ETransplantation, 2012-08, Vol.94 (4), p.377-382 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like proteinHarris, Peter C ; Ward, Christopher J ; Hogan, Marie C ; Rossetti, Sandro ; Walker, Denise ; Sneddon, Tam ; Wang, Xiaofang ; Kubly, Vicky ; Cunningham, Julie M ; Bacallao, Robert ; Ishibashi, Masahiko ; Milliner, Dawn S ; Torres, Vicente ENature genetics, 2002-03, Vol.30 (3), p.259-269 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisHOPP, Katharina ; HEYER, Christina M ; TORRES, Vicente E ; ROSSETTI, Sandro ; HARRIS, Peter C ; HOMMERDING, Cynthia J ; HENKE, Susan A ; SUNDSBAK, Jamie L ; PATEL, Shail ; PATEL, Priyanka ; CONSUGAR, Mark B ; CZARNECKI, Peter G ; GLIEM, Troy JHuman molecular genetics, 2011-07, Vol.20 (13), p.2524-2534 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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4 |
Material Type: Artigo
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Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Tammachote, Rachaneekorn ; Hommerding, Cynthia J. ; Sinders, Rachel M. ; Miller, Caroline A. ; Czarnecki, Peter G. ; Leightner, Amanda C. ; Salisbury, Jeffrey L. ; Ward, Christopher J. ; Torres, Vicente E. ; Gattone, Vincent H. ; Harris, Peter C.Human molecular genetics, 2009-09, Vol.18 (17), p.3311-3323 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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5 |
Material Type: Artigo
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The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk ratBennett, Christopher P ; Attie-Bitach, Tania ; Lilliquist, Stacie ; Pasha, Shanaz ; Harris, Peter C ; Morgan, Neil V ; Malik Sharif, Saghira ; Maher, Eamonn R ; Johnson, Colin A ; Tee, Louise J ; Maina, Esther N ; Bucourt, Martine ; Miller, Caroline A ; Ward, Christopher J ; Goranson, Erin ; Trembath, Richard C ; McKee, Brandy M ; McKeown, Carole ; Consugar, Mark ; Torres, Vicente E ; Cox, Phillip ; Smith, Ursula M ; Gattone, Vincent H ; Whelan, Shelly ; Aligianis, Irene A ; Batman, Philip A ; Woods, C Geoffrey ; AlGazali, Lihadh ; Punyashthiti, Rachaneekorn ; Gissen, Paul ; Kelly, Deirdre ANature genetics, 2006-02, Vol.38 (2), p.191-196 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Imatinib therapy of chronic myeloid leukemia restores the expression levels of key genes for DNA damage and cell-cycle progressionBenito, Rocío ; Lumbreras, Eva ; Abáigar, María ; Gutiérrez, Norma C ; Delgado, Manuel ; Robledo, Cristina ; García, Juan L ; Rodríguez-Vicente, Ana E ; Cañizo, M Consuelo ; Rivas, Jesús Maria HernándezPharmacogenetics and genomics, 2012-05, Vol.22 (5), p.381-388 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & Wilkins, IncTexto completo disponível |
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7 |
Material Type: Artigo
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Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3CONSUGAR, Mark B ; KUBLY, Vickie J ; LAGER, Donna J ; HOMMERDING, Cynthia J ; WAI CHONG WONG ; BAKKER, Egbert ; GATTONE, Vincent H ; TORRES, Vicente E ; BREUNING, Martijn H ; HARRIS, Peter CHuman genetics, 2007-06, Vol.121 (5), p.591-599 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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8 |
Material Type: Artigo
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Analysis of a quantitative PCR assay for CMV infection in liver transplant recipients: an intent to find the optimal cut-off valueMartín-Dávila, P. ; Fortún, J. ; Gutiérrez, C. ; Martí-Belda, P. ; Candelas, A. ; Honrubia, A. ; Barcena, R. ; Martínez, A. ; Puente, A. ; Vicente, E. de ; Moreno, S.Journal of clinical virology, 2005-06, Vol.33 (2), p.138-144 [Periódico revisado por pares]Amsterdam: Elsevier B.VTexto completo disponível |
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9 |
Material Type: Artigo
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The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver diseaseLager, Donna J. ; Qian, Qi ; Bengal, Rosemary J. ; Ishibashi, Masahiko ; Torres, Vicente E.Kidney international, 2001-01, Vol.59 (1), p.126-136 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Germline PKHD1 mutations are protective against colorectal cancerWard, Christopher J ; Wu, Yanhong ; Johnson, Ruth A ; Woollard, John R ; Bergstralh, Eric J ; Cicek, Mine S ; Bakeberg, Jason ; Rossetti, Sandro ; Heyer, Christina M ; Petersen, Gloria M ; Lindor, Noralene M ; Thibodeau, Stephen N ; Harris, Peter C ; Torres, Vicente E ; Hogan, Marie C ; Boardman, Lisa AHuman genetics, 2011-03, Vol.129 (3), p.345-349 [Periódico revisado por pares]Berlin/Heidelberg: Berlin/Heidelberg : Springer-VerlagTexto completo disponível |