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Page 1
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D. Stepensky P, et al. Among authors: zenvirt s. Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18. Blood. 2013. PMID: 23599270 Free article.
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O. Nevo Y, et al. Among authors: zenvirt s. Blood. 2013 Jan 3;121(1):129-35. doi: 10.1182/blood-2012-07-441857. Epub 2012 Nov 13. Blood. 2013. PMID: 23149847 Free article.
An SNX10 mutation causes malignant osteopetrosis of infancy.
Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. Aker M, et al. Among authors: zenvirt s. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. J Med Genet. 2012. PMID: 22499339
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O. Edvardson S, et al. Among authors: zenvirt s. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1. PLoS One. 2012. PMID: 22563501 Free PMC article.
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A. Maor-Sagie E, et al. Among authors: zenvirt s. J Assist Reprod Genet. 2015 Jun;32(6):887-91. doi: 10.1007/s10815-015-0445-y. Epub 2015 Apr 22. J Assist Reprod Genet. 2015. PMID: 25899990 Free PMC article.
21 results