Zenvirt S - Search Results

1

Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.

Daum H, Meiner V, Hacohen N, Zvi N, Eilat A, Drai-Hasid R, Yagel S, Zenvirt S, Frumkin A. Daum H, et al. Among authors: zenvirt s. Ultrasound Obstet Gynecol. 2019 Nov;54(5):655-660. doi: 10.1002/uog.20230. Ultrasound Obstet Gynecol. 2019. PMID: 30693591 Free article.

2

Role of late amniocentesis in the era of modern genomic technologies.

Daum H, Ben David A, Nadjari M, Zenvirt S, Helman S, Yanai N, Meiner V, Yagel S, Frumkin A, Shkedi Rafid S; collaborating authors. Daum H, et al. Among authors: zenvirt s. Ultrasound Obstet Gynecol. 2019 May;53(5):676-685. doi: 10.1002/uog.20113. Epub 2019 Apr 12. Ultrasound Obstet Gynecol. 2019. PMID: 30155922 Free article.

3

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.

Stern S, Hacohen N, Meiner V, Yagel S, Zenvirt S, Shkedi-Rafid S, Macarov M, Valsky DV, Porat S, Yanai N, Frumkin A, Daum H. Stern S, et al. Among authors: zenvirt s. Ultrasound Obstet Gynecol. 2021 May;57(5):813-820. doi: 10.1002/uog.22026. Epub 2021 Apr 5. Ultrasound Obstet Gynecol. 2021. PMID: 32202684 Free article.

4

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.

Daum H, Segel R, Meiner V, Goldberg Y, Zeligson S, Weiss O, Stern S, Frumkin A, Zenvirt S, Ganz G, Shkedi-Rafid S. Daum H, et al. Among authors: zenvirt s. J Med Genet. 2023 Jan;60(1):99-105. doi: 10.1136/jmedgenet-2021-107890. Epub 2022 Mar 9. J Med Genet. 2023. PMID: 35264407

5

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.

6

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Ben-Neriah Z, et al. Among authors: zenvirt s. Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990102

7

Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Ta-Shma A, Pierri CL, Stepensky P, Shaag A, Zenvirt S, Elpeleg O, Rein AJ. Ta-Shma A, et al. Among authors: zenvirt s. Am J Med Genet A. 2013 Dec;161A(12):3115-20. doi: 10.1002/ajmg.a.36194. Epub 2013 Oct 29. Am J Med Genet A. 2013. PMID: 24254849

8

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O. Berger I, et al. Among authors: zenvirt s. Mol Genet Metab. 2011 Dec;104(4):517-20. doi: 10.1016/j.ymgme.2011.09.020. Epub 2011 Sep 24. Mol Genet Metab. 2011. PMID: 22019070

9

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

10

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O. Edvardson S, et al. Among authors: zenvirt s. Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036350 Free PMC article.

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