Volodarsky M - Search Results

1

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. Among authors: volodarsky m. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.

2

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: volodarsky m. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

3

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.

Volodarsky M, Langer Y, Birk OS. Volodarsky M, et al. BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9. BMC Med Genet. 2014. PMID: 25267529 Free PMC article.

4

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS. Volodarsky M, et al. Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358778

5

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. Perez Y, et al. Among authors: volodarsky m. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545877

6

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

7

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Volodarsky M, Zilberman U, Birk OS. Volodarsky M, et al. Arch Oral Biol. 2015 Jun;60(6):919-22. doi: 10.1016/j.archoralbio.2015.02.018. Epub 2015 Feb 28. Arch Oral Biol. 2015. PMID: 25827751

8

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. Perez Y, et al. Among authors: volodarsky m. Brain. 2017 Apr 1;140(4):928-939. doi: 10.1093/brain/awx013. Brain. 2017. PMID: 28334855 Free PMC article.

9

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Aref-Eshghi E, McGee JD, Pedro VP, Kerkhof J, Stuart A, Ainsworth PJ, Lin H, Volodarsky M, McLachlin CM, Sadikovic B. Aref-Eshghi E, et al. Among authors: volodarsky m. J Hum Genet. 2020 Oct;65(10):865-873. doi: 10.1038/s10038-020-0780-4. Epub 2020 Jun 1. J Hum Genet. 2020. PMID: 32483276 Free PMC article.

10

Is intrauterine device a risk factor for failure of conservative management in patients with tubo-ovarian abscess? An observational retrospective study.

Kapustian V, Namazov A, Yaakov O, Volodarsky M, Anteby EY, Gemer O. Kapustian V, et al. Among authors: volodarsky m. Arch Gynecol Obstet. 2018 May;297(5):1201-1204. doi: 10.1007/s00404-018-4690-z. Epub 2018 Feb 24. Arch Gynecol Obstet. 2018. PMID: 29478102

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