ETHICAL DILEMMA IN THE PREGNANCY WITH FETAL MALFORMATIONS

Autor: Georgiana Russu, Radu Russu

Publikováno v: Romanian Journal of Pediatrics, Vol 65, Iss 1, Pp 15-18 (2016)

Congenital heart malformations, with an incidence of 6-8/1,000 births, represent about 30% of cases of infant mortality due to congenital abnormalities. Of these, most require immediate corrective surgery in the neonatal period. Kidney and urinary t

Externí odkaz: https://doaj.org/article/346fa596e3454c37beb40527a92ccdbd

209 Are kindey malformations possible feature of men2b syndrome? – report of a patient with men2b, type 1 diabetes, situs viscerum inversus and kidney malformations

Autor: Nataša Rojnić Putarek, Anita Špehar Uroić, Lucija Kolega Mrkic, Nevena Krnić, Jadranka Sertić

Publikováno v: Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::435f60c899a2d65eafbcb321e42ade04
https://doi.org/10.1136/archdischild-2021-europaediatrics.209

Evaluation of IoT Capability in Detecting Kidney Malformations on Ultrasound Imaging System

Autor: Soheila Vashghani Farahani, Mehrangiz Ghabimi, Sadegh Taheri, Monireh Tahvildarzadeh, Ali Hajipourtalebi

Publikováno v: Iranian Journal of Radiology. 16

Background: Remote radiology is used in the remote areas today to diagnose scanned ultrasound data due to the lack of trained radiologists. The availability of online radiography experts and the availability of portable ultrasound communication facil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0b54b6bbcf3f760dd1d5e4228e68be1
https://doi.org/10.5812/iranjradiol.99155

ETHICAL DILEMMA IN THE PREGNANCY WITH FETAL MALFORMATIONS

Autor: Radu Russu, Georgiana Russu

Publikováno v: Romanian Journal of Pediatrics, Vol 65, Iss 1, Pp 15-18 (2016)

Congenital heart malformations, with an incidence of 6-8/1,000 births, represent about 30% of cases of infant mortality due to congenital abnormalities. Of these, most require immediate corrective surgery in the neonatal period. Kidney and urinary tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5efd290936d27146228368c0c42dab85
https://doi.org/10.37897/rjp.2016.1.3

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

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

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