GENETIC DISEASES AND MOLECULAR GENETICS

Autor: C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, S. Babu, T. Jungraithmayr, Y. Lebranchu, M. Riedl, A. O. Gaber, C. Bedrosian, P. Muus, K. Douglas, G. Remuzzi, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, C. Curci, S. Cox, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, C. Deltas, A. Pierides, M. Kkolou, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, B. Zonnenberg, W. Cheung, J. Wang, D. Lam, K. Budde, L. Ivanitskiy, E. Sowershaewa, T. Krasnova, L. Samokhodskaya, M. Safarikova, R. Jana, S. Jitka, L. Obeidova, M. Kohoutova, V. Tesar, H. Evrengul, P. Ertan, E. Serdaroglu, S. Yuksel, S. Mir, E. Yang n Ergon, A. Berdeli, A. Zawada, K. Rogacev, B. Rotter, P. Winter, D. Fliser, G. Heine, S. Bataille, V. Moal, Y. Berland, L. Daniel, C. Rosado, E. Bueno, P. Fraile, C. Lucas, P. Garcoa-Cosmes, J. M. Tabernero, R. Gonzalez, P. Garcia-Cosmes, M. Silska-Dittmar, K. Zaorska, A. Malke, A. Musielak, D. Ostalska-Nowicka, J. Zachwieja, V. K d r, E. Uz, A. Yigit, A. Altuntas, B. Yigit, S. Inal, M. Sezer, R. Yilmaz, B. Visciano, C. Porto, E. Acampora, R. Russo, E. Riccio, I. Capuano, G. Parenti, A. Pisani, S. Feriozzi, A. Perrin, M. West, K. Nicholls, J. Torras, M. Cybulla, M. Conti, A. Angioi, M. Floris, P. Melis, A. M. Asunis, D. Piras, A. Pani, D. Warnock, A. Guasch, C. Thomas, C. Wanner, R. Campbell, B. Vujkovac, I. Okur, G. Biberoglu, F. Ezgu, L. Tumer, A. Hasanoglu, Z. Bicik, Y. Akin, M. Mumcuoglu, T. Ecder, C. Paliouras, G. Mattas, N. Papagiannis, G. Ntetskas, F. Lamprianou, N. Karvouniaris, P. Alivanis

Publikováno v: Nephrology Dialysis Transplantation. 29:iii339-iii350

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f93d37001a0d21f29b49c8e5eca855d
https://doi.org/10.1093/ndt/gfu162

[Clinical analysis of a population with autosomal dominant polycystic kidney disease]

Autor: P Fraile, Gómez, P, García-Cosmes, L Gorbacho, Becerra, J M Tabernero, Romo

Publikováno v: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. 30(1)

Autosomal dominant polycystic kidney disease is a multiorgan hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. The diagnosis of this disease can be performed th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb2d54b0f6ee0a0b96c31f0c130aa25a
https://pubmed.ncbi.nlm.nih.gov/20098473

Effects of subclinical hyperthyroidism on renal handling of water and electrolytes in patients with nodular goiter

Autor: M. T. Hernández, J. M. Miralles, J. M. Tabernero, J. J. Corrales

Publikováno v: Klinische Wochenschrift. 69:19-24

Evidence is beginning to accumulate that minor degrees of hyperthyroidism lead to adverse effects in various tissues, even though clinically the patients are euthyroid. To determine whether these anomalies in thyroid function have deleterious effects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd3e0ed022afd3f22c9f936178a9c05
https://doi.org/10.1007/bf01649051

[Multicenter study of darbepoetin alfa in the treatment of anemia secondary to chronic renal insufficiency on dialysis]

Autor: A, Martínez Castelao, A, Reyes, F, Valdés, A, Otero, E, López de Novales, L, Pallardó, J M, Tabernero, J, Hernández Jaras, F, Lladós

Publikováno v: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. 23(2)

This Spanish single-arm, multicenter, prospective clinical trial assessed the maintenance of hemoglobin concentrations (Hb) between 10-13 g/dL with unit doses of darbepoetin alfa and the safety of the treatment in dialysis patients. Eight-hundred twe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::795bf5b7234a6cdd4e6a4117b92a12a8
https://pubmed.ncbi.nlm.nih.gov/12778875

[Treatment of stage I germ cell tumors of the testis]

Autor: L, Santomé Couto, J M, Tabernero Caturla, H, Villavicencio Mavrich, V, Valentí Moreno

Publikováno v: Archivos espanoles de urologia. 53(6)

To review the advantages, disadvantages and efficacy of the different therapeutic options for stage I seminoma and nonseminomatous germ cell testicular tumors.The literature on the treatment of stage I germ cell testicular tumors was reviewed.Germ ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8fc120e029b24c3883f121eed54c5076
https://pubmed.ncbi.nlm.nih.gov/11002515