Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D'Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone
Published in Kidney international (01.12.2015)
Published in Kidney international (01.12.2015)
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Journal Article
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome
Sanna-Cherchi, Simone, Burgess, Katelyn E., Nees, Shannon N., Caridi, Gianluca, Weng, Patricia L., Dagnino, Monica, Bodria, Monica, Carrea, Alba, Allegretta, Maddalena A., Kim, Hyunjae R., Perry, Brittany J., Gigante, Maddalena, Clark, Lorraine N., Kisselev, Sergey, Cusi, Daniele, Gesualdo, Loreto, Allegri, Landino, Scolari, Francesco, D'Agati, Vivette, Shapiro, Lawrence S., Pecoraro, Carmine, Palomero, Teresa, Ghiggeri, Gian M., Gharavi, Ali G.
Published in Kidney international (01.08.2011)
Published in Kidney international (01.08.2011)
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Journal Article
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
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.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Mutations in DSTYK and Dominant Urinary Tract Malformations
Sanna-Cherchi, S, Sampogna, R.V, Papeta, N, Burgess, K.E, Nees, S.N, Perry, B.J, Choi, M, Bodria, M, Liu, Y, Weng, P.L, Lozanovski, V.J, Verbitsky, M, Lugani, F, Sterken, R, Paragas, N, Caridi, G, Carrea, A, Dagnino, M, Materna-Kiryluk, A, Santamaria, G, Murtas, C, Ristoska-Bojkovska, N, Izzi, C, Kacak, N, Bianco, B, Giberti, S, Gigante, M, Piaggio, G, Gesualdo, L, Kosuljandic Vukic, D, Vukojevic, K, Saraga-Babic, M, Saraga, M, Gucev, Z, Allegri, L, Latos-Bielenska, A, Casu, D, State, M, Scolari, F, Ravazzolo, R, Kiryluk, K, Al-Awqati, Q, D'Agati, V.D, Drummond, I.A, Tasic, V, Lifton, R.P, Ghiggeri, G.M, Gharavi, A.G
Published in The New England journal of medicine (15.08.2013)
Published in The New England journal of medicine (15.08.2013)
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