Behar DM - Search Results

1

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: behar dm. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.

2

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Reinstein E, Tzur S, Cohen R, Bormans C, Behar DM. Reinstein E, et al. Among authors: behar dm. Eur J Hum Genet. 2016 Nov;24(11):1635-1638. doi: 10.1038/ejhg.2016.72. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329731 Free PMC article.

3

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L. de Vries L, et al. Among authors: behar dm. J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32. doi: 10.1210/jc.2014-1268. Epub 2014 Jul 25. J Clin Endocrinol Metab. 2014. PMID: 25062452

4

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L. Straussberg R, et al. Among authors: behar dm. Eur J Paediatr Neurol. 2015 Mar;19(2):240-2. doi: 10.1016/j.ejpn.2014.11.004. Epub 2014 Nov 29. Eur J Paediatr Neurol. 2015. PMID: 25500575

5

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

Cohen L, Orenstein N, Weisz-Hubshman M, Bazak L, Davidov B, Reinstein E, Tzur S, Behar D, Smirin-Yosef P, Salmon-Divon M, Gross A, Shohat M, Basel-Vanagaite L. Cohen L, et al. Harefuah. 2017 Apr;156(4):212-216. Harefuah. 2017. PMID: 28551919 Hebrew.

6

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A. Behar DM, et al. J Lipid Res. 2014 Feb;55(2):307-12. doi: 10.1194/jlr.P041103. Epub 2013 Nov 21. J Lipid Res. 2014. PMID: 24262094 Free PMC article.

7

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otın C. Reinstein E, et al. Among authors: behar dm. Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7. Eur J Hum Genet. 2016. PMID: 27601210 Free PMC article.

8

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Among authors: behar dm. Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6. Hum Genet. 2015. PMID: 25560765

9

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Weisz-Hubshman M, et al. Among authors: behar dm. Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19. Eur J Paediatr Neurol. 2019. PMID: 30853297

10

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Among authors: behar dm. Hum Genet. 2015 Mar;134(3):315. doi: 10.1007/s00439-015-1530-0. Hum Genet. 2015. PMID: 25609191 No abstract available.

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