Raas-Rothschild A - Search Results

1

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

2

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

3

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

4

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.

5

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.

6

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

7

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.

8

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.

Raas-Rothschild A, Bargal R, DellaPergola S, Zeigler M, Bach G. Raas-Rothschild A, et al. Eur J Hum Genet. 1999 May-Jun;7(4):496-8. doi: 10.1038/sj.ejhg.5200277. Eur J Hum Genet. 1999. PMID: 10352940

9

Identification of the gene causing mucolipidosis type IV.

Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Bargal R, et al. Nat Genet. 2000 Sep;26(1):118-23. doi: 10.1038/79095. Nat Genet. 2000. PMID: 10973263

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

136 results

Search Page