Abeliovich D - Search Results

1

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D. Werner M, et al. Among authors: abeliovich d. Am J Med Genet A. 2004 Aug 30;129A(2):176-9. doi: 10.1002/ajmg.a.20621. Am J Med Genet A. 2004. PMID: 15316980

2

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Silverstein S, et al. Among authors: abeliovich d. Prenat Diagn. 2002 Aug;22(8):649-51. doi: 10.1002/pd.370. Prenat Diagn. 2002. PMID: 12210570

3

Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.

Reish O, Lerer I, Amiel A, Heyman E, Herman A, Dolfin T, Abeliovich D. Reish O, et al. Among authors: abeliovich d. Am J Med Genet. 2002 Jan 22;107(3):209-13. doi: 10.1002/ajmg.10143. Am J Med Genet. 2002. PMID: 11807901 Review.

4

Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations.

Segel R, Silverstein S, Lerer I, Kahana E, Meir R, Sagi M, Zilber N, Korczyn AD, Shapira Y, Argov Z, Abeliovich D. Segel R, et al. Among authors: abeliovich d. Am J Med Genet A. 2003 Jun 15;119A(3):273-8. doi: 10.1002/ajmg.a.20177. Am J Med Genet A. 2003. PMID: 12784291

5

Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

Quint A, Lerer I, Sagi M, Abeliovich D. Quint A, et al. Among authors: abeliovich d. Am J Med Genet A. 2005 Jul 30;136(3):246-8. doi: 10.1002/ajmg.a.30823. Am J Med Genet A. 2005. PMID: 15948195

6

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.

Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J. Fares F, et al. Among authors: abeliovich d. Am J Med Genet A. 2006 Aug 15;140(16):1785-8. doi: 10.1002/ajmg.a.31380. Am J Med Genet A. 2006. PMID: 16835920

7

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Granot-Hershkovitz E, Raas-Rothschild A, Frumkin A, Granot D, Silverstein S, Abeliovich D. Granot-Hershkovitz E, et al. Among authors: abeliovich d. Am J Med Genet A. 2011 Aug;155A(8):1825-32. doi: 10.1002/ajmg.a.33952. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739571

8

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: abeliovich d. Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013. Am J Hum Genet. 2008. PMID: 18940313 Free PMC article.

9

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D. Lerer I, et al. Among authors: abeliovich d. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. doi: 10.1093/hmg/ddi415. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301218

10

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D. Banin E, et al. Among authors: abeliovich d. Am J Med Genet A. 2007 Jun 1;143A(11):1150-8. doi: 10.1002/ajmg.a.31642. Am J Med Genet A. 2007. PMID: 17480003

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