المؤلفون: 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

المصدر: Nephrology Dialysis Transplantation. 29:iii339-iii350

مصطلحات موضوعية: Genetics, Transplantation, medicine.medical_specialty, Nephrology, business.industry, Molecular genetics, medicine, business

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

المؤلفون: K. Tsuchiya, S. Shiohira, H. Sugiura, M. Suzuki, K. Okano, K. Nitta, N. Kaesler, S. Immendorf, C. Ouyang, P. Carmeliet, J. Floege, T. Kruger, G. Schlieper, A. Georgescu, J. Kalucka, S. Olbrich, J. Baumgartl, T. Hackenbeck, K.-U. Eckardt, A. Weidemann, S. Chmielewski, A. Olejnik, K. Sikorski, U. Heemann, J. Wesoly, H. Bluyssen, M. Baumann, D. Mekahli, J.-P. Decuypere, L. Missiaen, E. Levtchenko, H. De Smedt, A. Stasi, G. Castellano, M. Gigante, A. Intini, P. Pontrelli, C. Divella, C. Curci, G. Grandaliano, L. Gesualdo, D. Vizza, A. Perri, D. Lofaro, P. Toteda, S. Lupinacci, F. Leone, P. Gigliotti, T. Papalia, R. Bonofiglio, A. V. Vatazin, P. V. Astakhov, A. B. Zulkarnaev, E. Parodi, D. Verzola, E. D'Amato, F. Viazzi, A. Gonnella, D. Garneri, R. Pontremoli, G. Garibotto, T.-H. Chen, C.-H. Chen, Y.-C. Chen, Y.-M. Sue, C.-Y. Cheng, L. Guiying, L. Ying, S. Pozzoli, M. Lino, S. Delli Carpini, M. Ferrandi, G. Zerbini, M. Simonini, L. Zagato, I. Molinari, L. Citterio, P. Manunta, X. Feng, X. Pan, W. Wang, N. Chen, Y.-x. Chen, W.-M. Wang, S. Tanaka, S. Yano, T. Sugimoto, H. Noh, M. R. Yu, H. J. Kim, S. A. Woo, Y. J. Cho, S. H. Kwon, J. S. Jeon, D. C. Han, H. Shimizu, M. Yisireyili, F. Nishijima, T. Niwa, E. S. Koh, S. Chung, S. J. Kim, H. E. Yoon, C. W. Park, Y. S. Chang, S. J. Shin, E. Y. Seong, H. Rhee, M. J. Shin, B. Y. Yang, Y. S. Jung, D. W. Lee, S. B. Lee, I. S. Kwak, I. Y. Kim, S. M. Sancho-Martinez, L. Prieto-Garcia, F. J. Lopez-Hernandez, J. M. Lopez-Novoa, E. H. Bae, H. S. Choi, S. Y. Joo, I. J. Kim, C. S. Kim, J. S. Choi, S. K. Ma, J. Lee, S. W. Kim, B. Humanes, C. Sonia, J. Jado, M. Mojena, J. Lara, L. Alvarez-Sala, A. Tejedor, A. Lazaro, Y. Wada, M. Iyoda, K. Matsumoto, Y. Shindo-Hirai, Y. Kuno, Y. Yamamoto, T. Suzuki, T. Shibata, T. Akizawa, S. Faubel, C. L. Edelstein, J. L. Cano Penalver, S. de Frutos Garcia, M. Griera Merino, A. Luengo Rodriguez, A. Garcia Jerez, L. Bohorquez Magro, D. Medrano, L. Calleros Basilio, M. Rodriguez Puyol, F. Thilo, Y. Liu, M. Tepel, H.-H. Hsu, K.-H. Chen, C.-C. Hung, C.-W. Yang, N. Endlich, J.-L. Lin, H. Pavenstadt, R. R. Rodrigues Diez, S. Mezzano, M. Ruiz-Ortega, R. Rodrigues Diez, C. Lavoz, Y. Nakayama, K. Fukami, S.-i. Yamagishi, N. Obara, M. Yokoro, R. Ando, Y. Kaida, M. Toyonaga, K. Kaifu, M. Takeuchi, S. Ueda, S. Okuda, K. Daenen, M. F. Hoylaerts, B. Bammens, J. Liu, F. Zhong, Q. Dai, L. Xu, A. Zaravinos, C. C. Deltas

المصدر: Nephrology Dialysis Transplantation. 28:i299-i308

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ce7a437bcb5c7a1986f6df761d31109
https://doi.org/10.1093/ndt/gft125

المؤلفون: C, Stavrou, A, Pierides, I, Zouvani, K, Kyriacou, C, Antignac, P, Neophytou, K, Christodoulou, C C, Deltas

المصدر: American journal of medical genetics. 77(2)

مصطلحات موضوعية: Adult, Male, Kidney Medulla, Hypertension, Renal, TRPP Cation Channels, Gout, Genetic Linkage, Proteins, Kidney Diseases, Cystic, Middle Aged, Polycystic Kidney, Autosomal Dominant, Pedigree, Uric Acid, Cyprus, Humans, Female, Age of Onset, Aged, Genes, Dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9ffc493425e7a7f77cfcc099b98f56e5
https://pubmed.ncbi.nlm.nih.gov/9605289

المؤلفون: A M, Pierides, C C, Deltas

المصدر: Contributions to nephrology. 122

مصطلحات موضوعية: Adult, Male, Cystinuria, Adolescent, Penicillamine, Tiopronin, Middle Aged, Diet, Pedigree, Kidney Calculi, Solubility, Risk Factors, Child, Preschool, Cystine, Humans, Female, Child, Chelating Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::328221589e166612c0eae2cdb53674f1
https://pubmed.ncbi.nlm.nih.gov/9399060

المؤلفون: Deltas C; College of Medicine, Qatar University, Doha, Qatar.; Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.

المصدر: Clinical genetics [Clin Genet] 2018 Mar; Vol. 93 (3), pp. 429-438. Date of Electronic Publication: 2018 Jan 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Modifier* , Genetic Predisposition to Disease* , Multifactorial Inheritance*, Alleles ; Animals ; Epistasis, Genetic ; Genetic Association Studies ; Genotype ; Humans ; Models, Genetic ; Mutation ; Phenotype ; Pseudogenes

المؤلفون: Papazachariou L; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Papagregoriou G; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Hadjipanagi D; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Demosthenous P; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Voskarides K; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Koutsofti C; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Stylianou K; Department of Nephrology, University of Crete-Greece, Heraklion, Greece., Ioannou P; Department of Nephrology, University of Crete-Greece, Heraklion, Greece., Xydakis D; Department of Nephrology, University of Crete-Greece, Heraklion, Greece., Tzanakis I; Department of Nephrology, General Hospital of Chania, Crete, Greece., Papadaki A; Department of Nephrology, General Hospital of Chania, Crete, Greece., Kallivretakis N; Department of Nephrology, General Hospital of Chania, Crete, Greece., Nikolakakis N; Division of Nephrology, General Hospital of Rethymno, Crete, Greece., Perysinaki G; Division of Nephrology, General Hospital of Rethymno, Crete, Greece., Gale DP; UCL Division of Medicine and Centre for Nephrology, University College London, London, UK., Diamantopoulos A; Department of Nephrology, Ayios Andreas Hospital, Patra, Greece., Goudas P; IATOS Dialysis Unit, Patra, Greece., Goumenos D; Department of Nephrology, Medical School, University of Patras, Patra, Greece., Soloukides A; Protypo Nefrologiko Athinon Dialysis Center, Athens, Greece., Boletis I; Department of Nephrology, Laikon Hospital, Athens, Greece., Melexopoulou C; Department of Nephrology, Laikon Hospital, Athens, Greece., Georgaki E; Pediatric Nephrology Unit, 'IASO' Children's Hospital, Athens, Greece., Frysira E; Department of Pediatrics, Athens University Medical School, Agia Sophia Children's Hospital, Athens, Greece., Komianou F; Department of Medical Genetics, Athens University Medical School, Agia Sophia Children's Hospital, Athens, Greece., Grekas D; University Hospital AXEPA, Thessaloniki, Greece., Paliouras C; Department of Nephrology, General Hospital of Rhodes, Rhodes, Greece., Alivanis P; Department of Nephrology, General Hospital of Rhodes, Rhodes, Greece., Vergoulas G; Organ Transplant Unit, Hippokratio General Hospital, Thessaloniki, Greece., Pierides A; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.; Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus., Daphnis E; Department of Nephrology, University of Crete-Greece, Heraklion, Greece., Deltas C; Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.

المصدر: Clinical genetics [Clin Genet] 2017 Nov; Vol. 92 (5), pp. 517-527. Date of Electronic Publication: 2017 Sep 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Collagen Type IV/*genetics , Glomerulosclerosis, Focal Segmental/*genetics , Hematuria/*genetics , Mutation/*genetics , Nephritis, Hereditary/*genetics, Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Family ; Female ; Glomerular Basement Membrane/pathology ; Glomerular Basement Membrane/ultrastructure ; Glomerulosclerosis, Focal Segmental/complications ; Hematuria/complications ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Nephritis, Hereditary/complications ; Pedigree ; Penetrance ; Young Adult

SCR Disease Name: Hematuria, Benign Familial

المؤلفون: Pierides A; Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus ; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Voskarides K; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Kkolou M; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Hadjigavriel M; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Deltas C; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.

المصدر: Hippokratia [Hippokratia] 2013 Jul; Vol. 17 (3), pp. 207-13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Hippokratio General Hospital of Thessalonki Country of Publication: Greece NLM ID: 101296613 Publication Model: Print Cited Medium: Print ISSN: 1108-4189 (Print) Linking ISSN: 11084189 NLM ISO Abbreviation: Hippokratia Subsets: PubMed not MEDLINE

المؤلفون: Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K, Deltas C

المصدر: Clinical genetics [Clin Genet] 2012 Sep; Vol. 82 (3), pp. 297-9. Date of Electronic Publication: 2012 Feb 16.

نوع المنشور: Letter

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Collagen Type IV/*genetics, Female ; Humans ; Male ; Mutation, Missense ; Nephritis, Hereditary/genetics ; Regression Analysis

المؤلفون: Demosthenous P; Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C

مؤلفون مشاركون: Hellenic Nephrogenetics Research Consortium

المصدر: Clinical genetics [Clin Genet] 2012 Mar; Vol. 81 (3), pp. 240-8. Date of Electronic Publication: 2011 Mar 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Collagen Type IV/*genetics , Nephritis, Hereditary/*genetics, Adolescent ; Adult ; Codon, Nonsense ; Cyprus/epidemiology ; Female ; Frameshift Mutation ; Genetic Association Studies ; Greece/epidemiology ; Humans ; Kidney Failure, Chronic/etiology ; Kidney Failure, Chronic/genetics ; Male ; Middle Aged ; Mutation, Missense ; Nephritis, Hereditary/complications ; Phenotype

المؤلفون: Neocleous V; Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus., Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA

المصدر: Journal of endocrinological investigation [J Endocrinol Invest] 2011 Nov; Vol. 34 (10), pp. 764-9. Date of Electronic Publication: 2011 Mar 21.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

مواضيع طبية MeSH: Multiple Endocrine Neoplasia Type 2a/*genetics , Neoplastic Syndromes, Hereditary/*genetics , Proto-Oncogene Proteins c-ret/*genetics , Proto-Oncogenes/*genetics , Thyroid Neoplasms/*genetics, Adult ; Carcinoma, Medullary/congenital ; Child ; Cyprus ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Neoplastic Syndromes, Hereditary/surgery ; Proto-Oncogene Mas ; Thyroid Neoplasms/surgery ; Thyroidectomy

SCR Disease Name: Familial medullary thyroid carcinoma