Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko, Jillian K; Tan, Weizhen; Daga, Ankana; Schapiro, David; Lawson, Jennifer A; Shril, Shirlee; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Schneider, Ronen; Gee, Heon Yung; Schmidt, J Magdalena; Vivante, Asaf; van der Ven, Amelie T; Ityel, Hadas; Chen, Jing; Sadowski, Carolin E; Kohl, Stefan; Pabst, Werner L; Nakayama, Makiko; Somers, Michael J G; Rodig, Nancy M; Daouk, Ghaleb; Baum, Michelle; Stein, Deborah R; Ferguson, Michael A; Traum, Avram Z; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan; Zenker, Martin; Bakkaloglu, Sevcan A; Müller, Dominik; Noyan, Aytul; Ozaltin, Fatih; Cadnapaphornchai, Melissa A; Hashmi, Seema; Hopcian, Jeffrey; Kopp, Jeffrey B; Benador, Nadine; Bockenhauer, Detlef; Bogdanovic, Radovan; Stajic, Natasa; Chernin, Gil; Ettenger, Robert

Warejko, Jillian K; Tan, Weizhen; Daga, Ankana; Schapiro, David; Lawson, Jennifer A; Shril, Shirlee; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Schneider, Ronen; Gee, Heon Yung; Schmidt, J Magdalena; Vivante, Asaf; van der Ven, Amelie T; Ityel, Hadas; Chen, Jing; Sadowski, Carolin E; Kohl, Stefan; Pabst, Werner L; Nakayama, Makiko; Somers, Michael J G; Rodig, Nancy M; Daouk, Ghaleb; Baum, Michelle; Stein, Deborah R; Ferguson, Michael A; Traum, Avram Z; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan; Zenker, Martin; Bakkaloglu, Sevcan A; Müller, Dominik; Noyan, Aytul; Ozaltin, Fatih; Cadnapaphornchai, Melissa A; Hashmi, Seema; Hopcian, Jeffrey; Kopp, Jeffrey B; Benador, Nadine; Bockenhauer, Detlef; Bogdanovic, Radovan; Stajic, Natasa; Chernin, Gil; Ettenger, Robert.

Affiliation

Warejko JK; Due to the number of contributing authors, the affiliations are provided in the Supplemental Material .

Clin J Am Soc Nephrol ; 13(1): 53-62, 2018 01 06.

Article in En | MEDLINE | ID: mdl-29127259

Subject(s)

DNA Mutational Analysis/methods; Exome Sequencing; Genetic Markers; Mutation; Nephrotic Syndrome/congenital; Adolescent; Adult; Age of Onset; Child; Child, Preschool; Female; Genetic Association Studies; Genetic Predisposition to Disease; Heredity; Humans; Infant; Male; Mutation Rate; Nephrotic Syndrome/diagnosis; Nephrotic Syndrome/epidemiology; Nephrotic Syndrome/genetics; Nephrotic Syndrome/therapy; Pedigree; Phenotype; Predictive Value of Tests; Prognosis; Young Adult

Key words

Child; Exome; Humans; Kidney Failure, Chronic; Mutation; Nephrosis, congenital; Phenotype; Renal Insufficiency, Chronic; genetic renal disease; kidney transplantation; molecular genetics; nephrotic syndrome; pediatric

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Full text: 1 Database: MEDLINE Main subject: DNA Mutational Analysis / Genetic Markers / Exome Sequencing / Mutation / Nephrotic Syndrome Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin J Am Soc Nephrol Journal subject: NEFROLOGIA Year: 2018 Type: Article

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