Rizel L - Search Results

1

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T. Rizel L, et al. Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219650 Free PMC article.

2

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Benayoun L, et al. Among authors: rizel l. Mol Genet Metab. 2007 Apr;90(4):453-7. doi: 10.1016/j.ymgme.2006.12.010. Epub 2007 Feb 1. Mol Genet Metab. 2007. PMID: 17275380

3

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Auslender N, et al. Among authors: rizel l. Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. Genet Test. 2008. PMID: 18452394

4

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T. Benayoun L, et al. Among authors: rizel l. Am J Med Genet A. 2009 Feb 15;149A(4):650-6. doi: 10.1002/ajmg.a.32634. Am J Med Genet A. 2009. PMID: 19140180

5

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T. Collin RW, et al. Among authors: rizel l. Am J Hum Genet. 2010 May 14;86(5):783-8. doi: 10.1016/j.ajhg.2010.03.016. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398884 Free PMC article.

6

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.

Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T. Goldenberg-Cohen N, et al. Among authors: rizel l. Mol Vis. 2013 Jul 20;19:1565-71. Print 2013. Mol Vis. 2013. PMID: 23882135 Free PMC article.

7

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: rizel l. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.

8

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

Eidinger O, Leibu R, Newman H, Rizel L, Perlman I, Ben-Yosef T. Eidinger O, et al. Among authors: rizel l. Mol Vis. 2015 Dec 8;21:1295-306. eCollection 2015. Mol Vis. 2015. PMID: 26702251 Free PMC article.

9

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.

Braverman I, Blumen SC, Newman H, Rizel L, Khayat M, Hanna R, St Guily JL, Tiosano B, Ben-Yosef T. Braverman I, et al. Among authors: rizel l. Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7. Genet Test Mol Biomarkers. 2017. PMID: 28590779

10

PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.

Allon G, Mann I, Remez L, Sehn E, Rizel L, Nevet MJ, Perlman I, Wolfrum U, Ben-Yosef T. Allon G, et al. Among authors: rizel l. Hum Mol Genet. 2019 Dec 15;28(24):4078-4088. doi: 10.1093/hmg/ddz248. Hum Mol Genet. 2019. PMID: 31628458

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