Zobrazeno 1 - 4
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pro vyhledávání: '"congenital kidney malformations"'
Akademický článek
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Autor:
Lorraine N. Clark, Krzysztof Kiryluk, Francesco Scolari, Gian Marco Ghiggeri, Marcin Zaniew, Anna Materna-Kiryluk, Valentina Corbani, Anita Ammenti, Stephen Sanders, Stefania Giberti, Hana Flögelová, Daniele Cusi, Ali G. Gharavi, Maddalena Gigante, Simona Curioni, Kristina Drnasin, Hakon Hakonarson, Akshata Kini, Landino Allegri, Simone Sanna-Cherchi, Roel Sterken, Luca Bernardo, Claudia Izzi, Nadica Ristoska-Bojkovska, Adela Arapović, Loreto Gesualdo, Brittany J. Perry, Sandosh Padmanabhan, Matthew W. State, Vladimir J Lozanovski, Alba Carrea, Cristina Barlassina, Dexter Hadley, Matthew G. Sampson, Richard P. Lifton, Tatiana Foroud, Wendy K. Chung, Gianluca Caridi, Miguel Verbitsky, Shannon N. Nees, Zoran Gucev, Nilgun Kacak, Marijan Saraga, Vinicio Goj, Katelyn Elizabeth Burgess, Velibor Tasic, Monica Bodria, Patricia L. Weng, Stefania Ferretti, Beatrice Bianco, Danio Somenzi, Corrado Murtas, Anna Latos-Bielenska, Vaidehi Jobanputra, Franca Allegri, Anna F. Dominiczak
Publikováno v:
American journal of human genetics, vol 91, iss 6
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37aace9b86699c6a0922f8cdf344d229
Autor:
Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Sterken, Roel, Verbitsky, Miguel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Perry, Brittany J., Carrea, Alba, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Arapovic, Adela, Drnasin, Kristina, Gianluca Caridi, Goj, Vinicio, Lifton, Richard P., Saraga, Marijan, Dominiczak, Anna F., 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:
Publons
ResearcherID
Web of Science
ResearcherID
Web of Science
Up to 16.6 % of patients with congenital kidney defects have a molecular diagnosis attributable to a genomic disorder. A search for genomic structural variantsis indicated in this patient population to diagnose theirspecific genomic disorders, conduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::26fabd575b8305e418942786857e3014
https://publons.com/publon/8159076/
https://publons.com/publon/8159076/
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.