Uz E - Search Results

1

Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.

Uz E, Mustafa C, Topaloglu R, Bilginer Y, Dursun A, Kasapcopur O, Ozen S, Bakkaloglu A, Ozcelik T. Uz E, et al. Arthritis Rheum. 2009 Nov;60(11):3410-2. doi: 10.1002/art.24956. Arthritis Rheum. 2009. PMID: 19877028 Free article.

2

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.

Ozcelik T, Uz E, Akyerli CB, Bagislar S, Mustafa CA, Gursoy A, Akarsu N, Toruner G, Kamel N, Gullu S. Ozcelik T, et al. Among authors: uz e. Eur J Hum Genet. 2006 Jun;14(6):791-7. doi: 10.1038/sj.ejhg.5201614. Eur J Hum Genet. 2006. PMID: 16596118 Free article. Clinical Trial.

3

Extremely skewed X-chromosome inactivation is increased in pre-eclampsia.

Uz E, Dolen I, Al AR, Ozcelik T. Uz E, et al. Hum Genet. 2007 Mar;121(1):101-5. doi: 10.1007/s00439-006-0281-3. Epub 2006 Nov 7. Hum Genet. 2007. PMID: 17115188

4

Skewed X-chromosome inactivation in scleroderma.

Uz E, Loubiere LS, Gadi VK, Ozbalkan Z, Stewart J, Nelson JL, Ozcelik T. Uz E, et al. Clin Rev Allergy Immunol. 2008 Jun;34(3):352-5. doi: 10.1007/s12016-007-8044-z. Clin Rev Allergy Immunol. 2008. PMID: 18157513 Free PMC article.

5

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases.

Chabchoub G, Uz E, Maalej A, Mustafa CA, Rebai A, Mnif M, Bahloul Z, Farid NR, Ozcelik T, Ayadi H. Chabchoub G, et al. Among authors: uz e. Arthritis Res Ther. 2009;11(4):R106. doi: 10.1186/ar2759. Epub 2009 Jul 9. Arthritis Res Ther. 2009. PMID: 19589151 Free PMC article.

6

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA. Kaplan Y, et al. Among authors: uz e. Br J Ophthalmol. 2008 Jan;92(1):135-41. doi: 10.1136/bjo.2007.128157. Epub 2007 Oct 25. Br J Ophthalmol. 2008. PMID: 17962394

7

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Ozcelik T, et al. Among authors: uz e. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7. Proc Natl Acad Sci U S A. 2008. PMID: 18326629 Free PMC article.

8

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Ozcelik T, et al. Among authors: uz e. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105. Proc Natl Acad Sci U S A. 2008. PMID: 18544652 Free PMC article. No abstract available.

9

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses.

Plagnol V, Uz E, Wallace C, Stevens H, Clayton D, Ozcelik T, Todd JA. Plagnol V, et al. Among authors: uz e. PLoS One. 2008 Aug 13;3(8):e2966. doi: 10.1371/journal.pone.0002966. PLoS One. 2008. PMID: 18698422 Free PMC article.

10

ALX4 dysfunction disrupts craniofacial and epidermal development.

Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. Kayserili H, et al. Among authors: uz e. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19. Hum Mol Genet. 2009. PMID: 19692347

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