Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maria Elisabetta De Ferrari"'
Autor:
Federica Ravera, Silvana Penco, Eli J. Holtzman, Maria Elisabetta De Ferrari, Liat Ganon, Giacomo Colussi, Paola Primignani, Marialuisa Querques, Dganit Dinour
Publikováno v:
Nephrology Dialysis Transplantation. 29:636-643
BACKGROUND Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d968fe186015a997a2924005988def6
https://doi.org/10.1093/ndt/gft460
https://doi.org/10.1093/ndt/gft460
Autor:
Ira Davis, Beatrice Goilav, Detlef Bockenhauer, Jeffrey J. Fadrowski, Ben A. Semmekrot, Trevor Cole, Lynn M. Boyden, Shrikant Mane, Margo Whiteford, Robert D. Bjornson, Giacomo Colussi, Tracy E. Hunley, Joseph R. Tucci, Fiona E. Karet, Craig C. Porter, Mohan Shenoy, Murim Choi, Priya Vaidyanathan, John W. Foreman, Jai Radhakrishnan, Stephanie Dewar, Alain Poujol, Sami A. Sanjad, Keith A. Choate, Carol Nelson-Williams, Kim M. Keppler-Noreuil, Richard D. Gordon, Matti Välimäki, Majid Rasoulpour, Richard P. Lifton, Maury Pinsk, Ali G. Gharavi, Craig W. Belsha, Hania Z. Al-Shahrouri, Sudhir K. Anand, Irina Tikhonova, Maria Elisabetta De Ferrari, Jim R. Stockigt, Marcel Lebel, Raoul D. Nelson, Howard Trachtman, Anita Farhi, Michael Gutkin, Alberto Bettinelli, Farook Thameem, Hakan R. Toka
Publikováno v:
Nature
Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis, has reveale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b392806a0877cd37740f1ac637bafa2
https://doi.org/10.1038/nature10814
https://doi.org/10.1038/nature10814
Autor:
Nicolò Borsa, Giacomo Colussi, Silvana Tedeschi, Mario G. Bianchetti, Camilla Mattiello, Maria Elisabetta De Ferrari, Giorgio Casari, Marie Louise Syren, Alberto Bettinelli
Publikováno v:
Clinical Journal of the American Society of Nephrology. 2:454-460
Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97a45237500a7c8eae48cefe4adf6a1
https://doi.org/10.2215/cjn.02950906
https://doi.org/10.2215/cjn.02950906
Autor:
Giuseppe Rombolà, Fabio Malberti, Giuseppe Pontoriero, Giacomo Colussi, Maurizio Surian, Luigi Minetti, Maria Elisabetta De Ferrari, Pablo Cosci, Antonio Antonacci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c194f82a117d94a761267629c03f3f7a
https://doi.org/10.1159/000408543
https://doi.org/10.1159/000408543
Autor:
Allen M. Spiegel, Laura Bolzoni, Giacomo Colussi, Stefano Mora, Giovanni Civati, Maria Elisabetta De Ferrari, Kendra A. Jones, Maria Carla Proverbio, Jianxin Hu
Publikováno v:
Journal of Bone and Mineral Research. 17:1461-1469
We report a novel missense mutation N124K in the extracellular calcium receptor (CaR) identified in two related subjects with the phenotypic features of autosomal dominant hypocalcemia (ADH). Expression of the N124K mutant receptor created by site-di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c12539a25804ae7fae23ec352e137dc
https://doi.org/10.1359/jbmr.2002.17.8.1461
https://doi.org/10.1359/jbmr.2002.17.8.1461
Autor:
Giovanni Civati, Maria Elisabetta De Ferrari, Silvia Prandoni, Giacomo Colussi, Marie Louise Syren, Silvana Tedeschi
Publikováno v:
Nephrology Dialysis Transplantation. 17:521-523
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94727cce6c3ea45b10b31b86c6e92965
https://doi.org/10.1093/ndt/17.3.521
https://doi.org/10.1093/ndt/17.3.521
Publikováno v:
Nephron. 66:122-123
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16dfa0f6bac8f966807a3560c8cd825a
https://doi.org/10.1159/000187785
https://doi.org/10.1159/000187785
Autor:
Carmelo Di Stefano, Michihito Okubo, R. Matesanz, James K. Onwubalili, H.A. Koomans, A. Maza, A. Heidland, Orlando Adamson, E.J. Dorhout Mees, John D. Bower, Giacomo Colussi, Vincenzo Savica, E. Rotellar, N. Di Paolo, Tadao Endo, Hisanori Uchida, Margaret Acara, A. Rydzewski, L. San Vicente, Norman M. Wolfish, M. Coroneo, A. Rosenzweig, W.H. Hörl, C. Quereda, Haruo Nakamura, Kishore Phadke, R.J. Hené, U. Buoncristiani, Edward T. Schroeder, Amir Tejani, G. Lafuente, M. Sheinfeld, J. Soszka, C.K. Chen, Franco Maccari, Jack Rubin, Dilip Sen, R.M. Schäfer, Ed Quillen, M.E. Martinez, Naoyuki Kobayashi, Sergio Villaschi, Maurizio Surian, Susan LaGraff, Khalid M.H. Butt, J. Ben-Ari, Elio Corvaja, Lars P. Nielsen, B. Glaser, J. Ortuño, Fabio Malberti, Marco Corsi, Anthony D. Nicastri, Finn Jørgensen, Guido Bellinghieri, J. Codina, Barbara R. Rennick, Giampiero Palmieri, Luigi Giusto Spagnoli, R. Perez-Garcia, M.D. Gurbindo, M. Myśliwiec, R. Marcén, Quintus Jones, Luigi Minetti, James G. Heaf, F. Valderrabano, Z. Kraiem, P. Boer, F. Consolo, Fumiaki Marumo, C. Gurbindo, Maria Elisabetta De Ferrari
Publikováno v:
Nephron. 35:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4853d14a8ed22415d570c76af98aedf
https://doi.org/10.1159/000183084
https://doi.org/10.1159/000183084
Autor:
P. Boer, R. Marcén, Vincenzo Savica, Haruo Nakamura, H.A. Koomans, F. Consolo, Dilip Sen, Carmelo Di Stefano, B. Glaser, M. Coroneo, Fumiaki Marumo, Maurizio Surian, J. Codina, Hisanori Uchida, Kishore Phadke, James G. Heaf, J. Ortuño, C. Gurbindo, A. Maza, F. Valderrabano, Lars P. Nielsen, Margaret Acara, J. Soszka, C.K. Chen, Luigi Giusto Spagnoli, A. Heidland, Amir Tejani, Franco Maccari, Maria Elisabetta De Ferrari, N. Di Paolo, G. Lafuente, M. Sheinfeld, Jack Rubin, R. Perez-Garcia, Guido Bellinghieri, Quintus Jones, Anthony D. Nicastri, Luigi Minetti, M.E. Martinez, Susan LaGraff, Ed Quillen, Elio Corvaja, Z. Kraiem, A. Rydzewski, M.D. Gurbindo, M. Myśliwiec, Marco Corsi, R.M. Schäfer, Norman M. Wolfish, J. Ben-Ari, W.H. Hörl, A. Rosenzweig, Naoyuki Kobayashi, Khalid M.H. Butt, Finn Jørgensen, Edward T. Schroeder, C. Quereda, U. Buoncristiani, R.J. Hené, John D. Bower, Michihito Okubo, E.J. Dorhout Mees, E. Rotellar, Sergio Villaschi, Fabio Malberti, James K. Onwubalili, Tadao Endo, Giampiero Palmieri, Giacomo Colussi, R. Matesanz, Orlando Adamson, L. San Vicente, Barbara Rennick
Publikováno v:
Nephron. 35:283-284
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7748f3732d024e2d515ab1969f77fe4
https://doi.org/10.1159/000183104
https://doi.org/10.1159/000183104
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4338a279632ef92d6e10834a0169647f
https://doi.org/10.1159/000183096
https://doi.org/10.1159/000183096