Kleta R - Search Results

1

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA. Westbroek W, et al. Among authors: kleta r. Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7. Mol Genet Metab. 2008. PMID: 18397837 Free PMC article.

2

Renal glucosuria due to SGLT2 mutations.

Kleta R, Stuart C, Gill FA, Gahl WA. Kleta R, et al. Mol Genet Metab. 2004 May;82(1):56-8. doi: 10.1016/j.ymgme.2004.01.018. Mol Genet Metab. 2004. PMID: 15110322

3

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. Kleta R, et al. Mol Genet Metab. 2002 Jul;76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. Mol Genet Metab. 2002. PMID: 12126933

4

Cystinosis: antibodies and healthy bodies.

Kleta R, Gahl WA. Kleta R, et al. J Am Soc Nephrol. 2002 Aug;13(8):2189-91. doi: 10.1097/01.asn.0000027098.90648.f2. J Am Soc Nephrol. 2002. PMID: 12138155 Review. No abstract available.

5

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. Huizing M, et al. Among authors: kleta r. Traffic. 2004 Sep;5(9):711-22. doi: 10.1111/j.1600-0854.2004.00208.x. Traffic. 2004. PMID: 15296495 Free article.

6

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA. Zarzour W, et al. Among authors: kleta r. Mol Genet Metab. 2005 Jun;85(2):125-32. doi: 10.1016/j.ymgme.2005.02.011. Epub 2005 Mar 25. Mol Genet Metab. 2005. PMID: 15896657

7

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. Huizing M, et al. Among authors: kleta r. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16. Mol Genet Metab. 2010. PMID: 20350831 Free PMC article.

8

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: kleta r. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.

9

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

10

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA. Kleta R, et al. Mol Genet Metab. 2004 Jun;82(2):137-43. doi: 10.1016/j.ymgme.2004.03.001. Mol Genet Metab. 2004. PMID: 15172001

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