Raas-Rothschild A - Search Results

1

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, Khateb S. Khalaileh A, et al. Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):1095-1104. doi: 10.1167/iovs.17-22817. Invest Ophthalmol Vis Sci. 2018. PMID: 29490346

2

Negative expansion of the myotonic dystrophy unstable sequence.

Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M. Abeliovich D, et al. Am J Hum Genet. 1993 Jun;52(6):1175-81. Am J Hum Genet. 1993. PMID: 8503449 Free PMC article.

3

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Lerer I, et al. Am J Med Genet. 2000 Nov 6;95(1):53-6. doi: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2. Am J Med Genet. 2000. PMID: 11074495

4

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A. Frishberg Y, et al. J Am Soc Nephrol. 2002 Feb;13(2):400-405. doi: 10.1681/ASN.V132400. J Am Soc Nephrol. 2002. PMID: 11805168

5

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.

Raas-Rothschild A, Shteyer E, Lerer I, Nir A, Granot E, Rein AJ. Raas-Rothschild A, et al. Am J Med Genet. 2002 Sep 15;112(1):75-8. doi: 10.1002/ajmg.10652. Am J Med Genet. 2002. PMID: 12239725

6

The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?

Frishberg Y, Feinstein S, Rinat C, Becker-Cohen R, Lerer I, Raas-Rothschild A, Ferber B, Nir A. Frishberg Y, et al. J Am Soc Nephrol. 2006 Jan;17(1):227-31. doi: 10.1681/ASN.2005060653. Epub 2005 Nov 16. J Am Soc Nephrol. 2006. PMID: 16291839

7

P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.

Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A. Hirshoren N, et al. Eur J Med Genet. 2008 Jul-Aug;51(4):351-7. doi: 10.1016/j.ejmg.2008.02.008. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18440889

8

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Raas-Rothschild A, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Eur J Med Genet. 2009. PMID: 19328248 Review.

9

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G. Bargal R, et al. Hum Mutat. 2001 May;17(5):397-402. doi: 10.1002/humu.1115. Hum Mutat. 2001. PMID: 11317355

10

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736

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