Raas-Rothschild A - Search Results

1

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

2

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

3

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC).

Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. Raas-Rothschild A, et al. J Clin Invest. 2000 Mar;105(5):673-81. doi: 10.1172/JCI5826. J Clin Invest. 2000. PMID: 10712439 Free PMC article.

4

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

5

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270

6

Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis.

Falik-Zaccai TC, Zeigler M, Bargal R, Bach G, Borochowitz Z, Raas-Rothschild A. Falik-Zaccai TC, et al. Prenat Diagn. 2003 Mar;23(3):211-4. doi: 10.1002/pd.566. Prenat Diagn. 2003. PMID: 12627421

7

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Raas-Rothschild A, et al. J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222. J Med Genet. 2004. PMID: 15060128 Free PMC article. No abstract available.

8

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Tiede S, et al. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2. Nat Med. 2005. PMID: 16200072

9

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

10

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Maydan G, Andresen BS, Madsen PP, Zeigler M, Raas-Rothschild A, Zlotogorski A, Gutman A, Korman SH. Maydan G, et al. J Inherit Metab Dis. 2006 Oct;29(5):620-6. doi: 10.1007/s10545-006-0407-8. Epub 2006 Aug 17. J Inherit Metab Dis. 2006. PMID: 16917729

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