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Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: vivante a. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).
Koren-Michowitz M, Shimoni A, Vivante A, Trakhtenbrot L, Rechavi G, Amariglio N, Loewenthal R, Nagler A, Cohen Y. Koren-Michowitz M, et al. Among authors: vivante a. Leuk Res. 2008 Mar;32(3):421-7. doi: 10.1016/j.leukres.2007.07.003. Epub 2007 Aug 14. Leuk Res. 2008. PMID: 17698191
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.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hwang DY, et al. Among authors: vivante a. Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31. Hum Genet. 2015. PMID: 26026792 Free PMC article. Clinical Trial.
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE. Ta-Shma A, et al. Among authors: vivante a. Am J Hum Genet. 2017 Apr 6;100(4):666-675. doi: 10.1016/j.ajhg.2017.02.007. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318500 Free PMC article.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.
102 results