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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: vivante a. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Shasha Lavsky H, Volovelsky O, Mane S, Ben-Ruby D, Chowers G, Skorecki K, Borovitz Y, Kagan M, Mor N, Khavkin Y, Tzvi-Behr S, Pollack S, Toder MP, Geylis M, Schnapp A, Becker-Cohen R, Weissman I, Schreiber R, Davidovits M, Frishberg Y, Magen D, Barel O, Vivante A. Ben-Moshe Y, et al. Among authors: vivante a. Kidney Int Rep. 2023 Jul 31;8(10):2126-2135. doi: 10.1016/j.ekir.2023.07.019. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850020 Free PMC article.
Adolescent Body Mass Index and Early Chronic Kidney Disease in Young Adulthood.
Tsur AM, Akavian I, Landau R, Derazne E, Tzur D, Vivante A, Grossman E, Rotem RS, Fishman B, Pinhas-Hamiel O, Afek A, Coresh J, Chodick G, Twig G. Tsur AM, et al. Among authors: vivante a. JAMA Pediatr. 2024 Feb 1;178(2):142-150. doi: 10.1001/jamapediatrics.2023.5420. JAMA Pediatr. 2024. PMID: 38079159
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M, Semo-Oz R, Ben Moshe Y, Atias-Varon D, Tirosh I, Stern-Zimmer M, Eliyahu A, Raas-Rothschild A, Bivas M, Shlomovitz O, Chorin O, Rock R, Tzadok M, Ben-Zeev B, Heimer G, Bolkier Y, Gruber N, Dagan A, Bar Aluma BE, Pessach IM, Rechavi G, Barel O, Pode-Shakked B, Anikster Y, Vivante A. Kagan M, et al. Among authors: vivante a. Front Genet. 2023 Jan 9;13:1018062. doi: 10.3389/fgene.2022.1018062. eCollection 2022. Front Genet. 2023. PMID: 36699461 Free PMC article.
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.
Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B. Vivante A, et al. J Am Soc Nephrol. 2013 Mar;24(4):550-8. doi: 10.1681/ASN.2012010097. Epub 2013 Mar 21. J Am Soc Nephrol. 2013. PMID: 23520208 Free PMC article.
A human integrin-α3 mutation confers major renal developmental defects.
Shukrun R, Vivante A, Pleniceanu O, Vax E, Anikster Y, Dekel B, Lotan D. Shukrun R, et al. Among authors: vivante a. PLoS One. 2014 Mar 12;9(3):e90879. doi: 10.1371/journal.pone.0090879. eCollection 2014. PLoS One. 2014. PMID: 24621570 Free PMC article.
103 results