Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Christina M. Heyer"'
Autor:
Fouad T. Chebib, Marie C. Hogan, Ziad M. El-Zoghby, Maria V. Irazabal, Sarah R. Senum, Christina M. Heyer, Charles D. Madsen, Emilie Cornec-Le Gall, Atta Behfar, Peter C. Harris, Vicente E. Torres
Publikováno v:
Kidney International Reports, Vol 2, Iss 5, Pp 913-923 (2017)
Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). Experimental evidence suggests an important role of the polycystins in cardiac development and myocardial function. To determine whether ADPKD may predispose to th
Externí odkaz:
https://doaj.org/article/1e7d8d2cc6b547e5b5c706459663d3b3
Autor:
Ziad M. El-Zoghby, Emilie Cornec-Le Gall, Christina M. Heyer, Vicente E. Torres, Charles D. Madsen, Fouad T. Chebib, Sarah R. Senum, Atta Behfar, Maria V. Irazabal, Peter C. Harris, Marie C. Hogan
Publikováno v:
Kidney International Reports, Vol 2, Iss 5, Pp 913-923 (2017)
Kidney International Reports
Kidney International Reports
Introduction Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). Experimental evidence suggests an important role of the polycystins in cardiac development and myocardial function. To determine whether ADPKD may pre
Autor:
Peter C. Harris, Christina M. Heyer, Ioan Andrei Iliuta, Korosh Khalili, Ryan Ting, Chen Chen, York Pei, Alessia C. Borgo, John Conklin, Andrew D. Paterson, Marina Pourafkari, Young Hwan Hwang, Kairong Wang, Emilie Cornec-Le Gall, Xuewen Song, Ning He, Vinusha Kalatharan, Sarah R. Senum
Publikováno v:
Journal of the American Society of Nephrology. 28:2768-2776
The absence of a positive family history (PFH) in 10%–25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected proban
Autor:
Jamie L. Sundsbak, Kyongtae T. Bae, Kaleab Z. Abebe, Michael F. Flessner, Michal Mrug, Godela Brosnahan, Douglas Landsittel, Theodore I. Steinman, Christina M. Heyer, Charity G. Moore, Robert W. Schrier, Katharina Hopp, Vicente E. Torres, Maria V. Irazabal, William E. Braun, Arlene B. Chapman, Jared J. Grantham, William M. Bennett, Ronald D. Perrone, Peter C. Harris, Alan S.L. Yu
Publikováno v:
Journal of the American Society of Nephrology. 27:2872-2884
Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high levels of allelic heterogeneity. We evaluated genotype-phenotype correlations in
Autor:
Korosh Khalili, Marie-Pierre Audrézet, Stefan Somlo, Oussamah Fikri-Benbrahim, Katharina Hopp, Jessica M. Smith, François Jouret, Saurabh Baheti, Claude Férec, Christina M. Heyer, Peter C. Harris, Dominique Joly, Binu Porath, Sarah R. Senum, Charles D. Madsen, Christophe Charasse, Yannick Le Meur, Jennifer Arroyo, Beili Shi, Whitney Besse, York Pei, Vladimir G. Gainullin, Emilie Cornec-Le Gall, Alan S.L. Yu, Vicente E. Torres, Jean-Marie Coulibaly, Rory J. Olson
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.832-844. ⟨10.1016/j.ajhg.2018.03.013⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.832-844. ⟨10.1016/j.ajhg.2018.03.013⟩
International audience; Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of
Autor:
Brendan C. Lanpher, Theodore I. Steinman, Fouad T. Chebib, Kaleab Z. Abebe, Ronald D. Perrone, Peter C. Harris, Robert W. Schrier, Charles D. Madsen, William E. Braun, Christina M. Heyer, Marc C. Patterson, Alan S.L. Yu, Sarah R. Senum, Vicente E. Torres, Emilie Cornec-Le Gall, Kyongtae T. Bae, Robert C. Albright, Arlene B. Chapman
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation. 72(2)
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in
Autor:
Peter C. Harris, John Ouyang, Yannick Le Meur, Arlene B. Chapman, Christina M. Heyer, Sarah R. Senum, Ron T. Gansevoort, Ronald D. Perrone, Frank S. Czerwiec, Maria V. Irazabal, Jaime D. Blais, Vicente E. Torres, Olivier Devuyst, Emilie Cornec-Le Gall
Publikováno v:
Nephrology Dialysis Transplantation
Nephrology Dialysis Transplantation, Oxford University Press (OUP), 2017, ⟨10.1093/ndt/gfx188⟩
Nephrology, Dialysis, Transplantation, 33(4), 645-652. Oxford University Press
Nephrology Dialysis Transplantation, Oxford University Press (OUP), 2017, ⟨10.1093/ndt/gfx188⟩
Nephrology, Dialysis, Transplantation, 33(4), 645-652. Oxford University Press
Background: The PROPKD score has been proposed to stratify the risk of progression to end-stage renal disease in autosomal dominant polycystic kidney disease (ADPKD) subjects. We aimed to assess its prognostic value in a genotyped subgroup of subject
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b102eeee18327f402889b58c648eb06d
https://hal.archives-ouvertes.fr/hal-01567881
https://hal.archives-ouvertes.fr/hal-01567881
Autor:
Moonnoh R. Lee, Mark B. Consugar, Vicente E. Torres, Daniel G. Bichet, Eliecer Coto, Edgar Almeida, Jamie L. Sundsbak, Maurizio Clementi, Katharina Hopp, Vickie J. Kubly, Sandro Rossetti, Peter C. Harris, Nadja Bogdanova, Christina M. Heyer, Binu M. Paul
Publikováno v:
Kidney International. 85:383-392
Mutations to PKD1 and PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The absence of apparent PKD1/PKD2 linkage in five published European or North American families with ADPKD suggested a third locus, designated PKD3 .
Autor:
Cécile Vigneau, Binu Porath, Elizabeth K. Dillinger, Saurabh Baheti, Marie C. Hogan, José Ignacio Herrero, Sarah R. Mauritz, Katharina Hopp, Emilie Cornec-Le Gall, Peter C. Harris, Vladimir G. Gainullin, Christina M. Heyer, Vicente E. Torres, Velibor Tasic, Marie Pierre Audrézet, Marie E. Edwards, Terry Watnick, Charles D. Madsen, Arlene B. Chapman, Yannick Le Meur, Frédéric Lavainne, Carly J. Banks, Claude Férec, Jesus M. Banales, Bharathi V. Reddy
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1193-1207. ⟨10.1016/j.ajhg.2016.05.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1193-1207. ⟨10.1016/j.ajhg.2016.05.004⟩
International audience; Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090731092f977a7a75988495eba5ac7c
https://europepmc.org/articles/PMC4908191/
https://europepmc.org/articles/PMC4908191/
Autor:
Marie C. Hogan, Peter C. Harris, Fouad T. Chebib, Maria V. Irazabal, Christina M. Heyer, Yeon-Soon Jung, Vicente E. Torres, Ziad M. El-Zoghby
BACKGROUND The autosomal dominant polycystic kidney disease (APDKD) genotype influences renal phenotype severity but its effect on polycystic liver disease (PLD) is unknown. Here we analyzed the influence of genotype on liver phenotype severity. METH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf46b22e40026f26a9a4c374334376d
https://europepmc.org/articles/PMC4876970/
https://europepmc.org/articles/PMC4876970/