Zobrazeno 1 - 10
of 412
pro vyhledávání: '"congenital kidney malformations"'
Autor:
Güngör T; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey. tulingungor84@gmail.com., Çakıcı EK; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Yılmaz AÇ; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Karakaya D; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Çelikkaya E; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Yazılıtaş F; Department of Pediatric Nephrology, Ulus Maternity and Child Health and Diseases Training and Research Hospital, Dr. Sami, Ankara, Turkey., Kenan BU; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Bülbül M; Department of Pediatric Nephrology, Ulus Maternity and Child Health and Diseases Training and Research Hospital, Dr. Sami, Ankara, Turkey.
Publikováno v:
Clinical and experimental nephrology [Clin Exp Nephrol] 2024 Dec 24. Date of Electronic Publication: 2024 Dec 24.
Autor:
Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.
Publikováno v:
In The American Journal of Human Genetics 2 November 2017 101(5):789-802
Autor:
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate
Externí odkaz:
https://doaj.org/article/c8243580e11c47288a4fde67ffec63d9
Autor:
Cai, Meiying1 (AUTHOR), Lin, Na1 (AUTHOR), Su, Linjuan1 (AUTHOR), Wu, Xiaoqing1 (AUTHOR), Xie, Xiaorui1 (AUTHOR), Li, Ying1 (AUTHOR), Chen, Xuemei1 (AUTHOR), Lin, Yuan1 (AUTHOR), Huang, Hailong1 (AUTHOR) hl-hai@163.com, Xu, Liangpu1 (AUTHOR) xiliangpu@fjmu.edu.cn
Publikováno v:
Molecular Cytogenetics (17558166). 3/24/2020, Vol. 13 Issue 1, p1-6. 6p.
Autor:
Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Verbitsky, Miguel, Perry, Brittany J., Sterken, Roel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K., Lifton, Richard P., Sanders, Stephan, State, Matthew, Clark, Lorraine N., Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F., Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, Gharavi, Ali G.
Publikováno v:
In The American Journal of Human Genetics 7 December 2012 91(6):987-997
Akademický článek
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Autor:
Xiaorui Xie, Yuan Lin, Linjuan Su, Xuemei Chen, Meiying Cai, Liangpu Xu, Ying Li, Hailong Huang, Xiaoqing Wu, Na Lin
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Molecular Cytogenetics
Molecular Cytogenetics
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the appl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::231fe9606e0d23a796a872f0c5621647
http://link.springer.com/article/10.1186/s13039-020-00481-7
http://link.springer.com/article/10.1186/s13039-020-00481-7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.
Publikováno v:
American journal of human genetics, 101(6). Cell Press
Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, H M, Ionita-Laza, I, Capone, V P, Fasel, D A, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, E A, Sampson, M G, Gillies, C E, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, G S, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, Y J, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, C L, Shril, S, Hildebrandt, F, van Wijk, J A E, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, Scolari, F, Tasic, V, Ghiggeri, G M, Latos-Bielenska, A, Materna-Kiryluk, A, Mane, S, Goldstein, D B, Lifton, R P, Katsanis, N, Davis, E E & Gharavi, A G 2017, ' Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) ', American journal of human genetics, vol. 101, no. 6, pp. 1034 . https://doi.org/10.1016/j.ajhg.2017.11.003
Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, H M, Ionita-Laza, I, Capone, V P, Fasel, D A, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, E A, Sampson, M G, Gillies, C E, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, G S, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, Y J, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, C L, Shril, S, Hildebrandt, F, van Wijk, J A E, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, Scolari, F, Tasic, V, Ghiggeri, G M, Latos-Bielenska, A, Materna-Kiryluk, A, Mane, S, Goldstein, D B, Lifton, R P, Katsanis, N, Davis, E E & Gharavi, A G 2017, ' Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) ', American journal of human genetics, vol. 101, no. 6, pp. 1034 . https://doi.org/10.1016/j.ajhg.2017.11.003
(The American Journal of Human Genetics 101, 789–802; November 2, 2017) In the version of this paper originally published, the author's name Anna Materna-Kiryluk was incorrectly hyphenated. It appears correctly here and online. The authors apologiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f0cb8c904b03a947091fe2a0fbb8cca2
https://research.vumc.nl/en/publications/ee38b299-0eb4-471c-a6c7-642a353b2475
https://research.vumc.nl/en/publications/ee38b299-0eb4-471c-a6c7-642a353b2475
Autor:
David Fasel, Magdalena Janezcko, Miguel Verbitsky, Katarina Vukojević, Monica Bodria, Edgar A. Otto, Hila Milo Rasouly, Virginia Vega-Warner, Marijan Saraga, Jeremiah Martino, Landino Allegri, Iuliana Ionita-Laza, Adele Mitrotti, Krzysztof Kiryluk, Joanna A.E. van Wijk, Richard P. Lifton, Claudia Izzi, David Goldstein, Vinicio Goj, Loreto Gesualdo, Velibor Tasic, Shrikant Mane, Ali G. Gharavi, Matthew G. Sampson, Adela Arapović, Gianluigi Ardissino, Young Ji Na, Marcin Zaniew, Rik Westland, Francesco Scolari, Simone Sanna-Cherchi, Erica E. Davis, Christopher E. Gillies, Shirlee Shril, Friedhelm Hildebrandt, Lorraine Fievet, Anna Materna-Kiryluk, Anna Latos-Bielenska, Cathy Mendelsohn, Valentina P Capone, Gabriel Makar, Qingxue Liu, Priya Krithivasan, Kamal Khan, Sitharthan Kamalakaran, Nicholas Katsanis, Gian Marco Ghiggeri, Igor Pediaditakis, Maddalena Gigante
Publikováno v:
Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, H M, Ionita-Laza, I, Capone, V P, Fasel, D A, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, E A, Sampson, M G, Gillies, C E, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, G S, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, Y J, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, C L, Shril, S, Hildebrandt, F, van Wijk, J A E, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, Scolari, F, Tasic, V, Ghiggeri, G M, Latos-Bielenska, A, Kiryluk, A M, Mane, S, Goldstein, D B, Lifton, R P, Katsanis, N, Davis, E E & Gharavi, A G 2017, ' Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations ', American journal of human genetics, vol. 101, no. 5, pp. 789-802 . https://doi.org/10.1016/j.ajhg.2017.09.018
American journal of human genetics, 101(5), 789-802. Cell Press
American journal of human genetics, 101(5), 789-802. Cell Press
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3a42ca76a4b241c69576911f5ac925
https://research.vumc.nl/en/publications/7a1c3557-be57-428b-a383-e7214d46b178
https://research.vumc.nl/en/publications/7a1c3557-be57-428b-a383-e7214d46b178