Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Ahram, D. F., Lim, T. Y., Ke, J., Jin, G., Verbitsky, M., Bodria, M., Kil, B. H., Chatterjee, D., Piva, S. E., Marasa, M., Zhang, J. Y., Cocchi, E., Caridi, G., Gucev, Z., Lozanovski, V. J., Pisani, I., Izzi, C., Savoldi, G., Gnutti, B., … Sanna-Cherchi, S. (2023). Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Journal of the American Society of Nephrology, 34(6), 1105–1119. https://doi.org/10.1681/asn.0000000000000132
Authors:
Dina F Ahram
Tze Y Lim
Juntao Ke
Gina Jin
Miguel Verbitsky
Monica Bodria
Byum Hee Kil
Debanjana Chatterjee
Stacy E Piva
Maddalena Marasa
Jun Y Zhang
Enrico Cocchi
Gianluca Caridi
Zoran Gucev
Vladimir J Lozanovski
Isabella Pisani
Claudia Izzi
Gianfranco Savoldi
Barbara Gnutti
Valentina P Capone
William Morello
Stefano Guarino
Pasquale Esposito
Sarah Lambert
Jai Radhakrishnan
Gerald B Appel
Natalie S Uy
Maya K Rao
Pietro A Canetta
Andrew S Bomback
Jordan G Nestor
Thomas Hays
David J Cohen
Carolina Finale
Joanna A E van Wijk
Claudio La Scola
Olga Baraldi
Francesco Tondolo
Dacia Di Renzo
Anna Jamry-Dziurla
Alessandro Pezzutto
Valeria Manca
Adele Mitrotti
Domenico Santoro
Giovanni Conti
Marida Martino
Mario Giordano
Loreto Gesualdo
Lada Zibar
Giuseppe Masnata
Mario Bonomini
Daniele Alberti
Gaetano La Manna
Yasar Caliskan
Andrea Ranghino
Pierluigi Marzuillo
Krzysztof Kiryluk
Grażyna Krzemień
Monika Miklaszewska
Fangming Lin
Giovanni Montini
Francesco Scolari
Enrico Fiaccadori
Adela Arapović
Marijan Saraga
James McKiernan
Shumyle Alam
Marcin Zaniew
Maria Szczepańska
Agnieszka Szmigielska
Przemysław Sikora
Dorota Drożdż
Malgorzata Mizerska-Wasiak
Shrikant Mane
Richard P Lifton
Velibor Tasic
Anna Latos-Bielenska
Ali G Gharavi
Gian Marco Ghiggeri
Anna Materna-Kiryluk
Rik Westland
Simone Sanna-Cherchi
Affiliated Authors:
Dina F Ahram
Tze Y Lim
Juntao Ke
Gina Jin
Miguel Verbitsky
Byum Hee Kil
Debanjana Chatterjee
Stacy E Piva
Maddalena Marasa
Jun Y Zhang
Enrico Cocchi
Valentina P Capone
Jai Radhakrishnan
Gerald B Appel
Natalie S Uy
Maya K Rao
Pietro A Canetta
Andrew S Bomback
Jordan G Nestor
Thomas Hays
David J Cohen
Adele Mitrotti
Krzysztof Kiryluk
Fangming Lin
James McKiernan
Shumyle Alam
Ali G Gharavi
Simone Sanna-Cherchi
Columbia Affiliation:
Subjects:
Hydronephrosis (MeSH)
Ureteral Obstruction (MeSH)
Vesico-Ureteral Reflux (MeSH)
Author Keywords:
dna copy number variations
genetic renal disease
genetics and development
kidney development
nucleotides
obstructive uropathy
pediatric nephrology
elink
Publication Type:
Article
Unique ID:
10.1681/asn.0000000000000132
PMID:
36995132
DOI:
10.1681/asn.0000000000000132
Journal:
Journal of the American Society of Nephrology
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record

Record Created: