Uyguner ZO - Search Results

1

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Altunoglu U, et al. Among authors: uyguner zo. Am J Med Genet A. 2014 Aug;164A(8):2054-8. doi: 10.1002/ajmg.a.36578. Epub 2014 Apr 24. Am J Med Genet A. 2014. PMID: 24764194

2

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.

Uyguner ZO, Siva A, Kayserili H, Saip S, Altintaş A, Apak MY, Albayram S, Işik N, Akman-Demir G, Taşyürekli M, Oz B, Wollnik B. Uyguner ZO, et al. J Neurol Sci. 2006 Jul 15;246(1-2):123-30. doi: 10.1016/j.jns.2006.02.021. Epub 2006 May 30. J Neurol Sci. 2006. PMID: 16730748

3

Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia.

Uyguner ZO, Kayserili H. Uyguner ZO, et al. Hum Genet. 2008 Oct;124(3):310-1. Hum Genet. 2008. PMID: 18846651 No abstract available.

4

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

Uzumcu A, Candan S, Toksoy G, Uyguner ZO, Karaman B, Eris H, Tatli B, Kayserili H, Yuksel A, Geckinli B, Yuksel-Apak M, Basaran S. Uzumcu A, et al. Among authors: uyguner zo. J Genet Genomics. 2009 Apr;36(4):251-6. doi: 10.1016/S1673-8527(08)60112-5. J Genet Genomics. 2009. PMID: 19376485

5

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.

Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A, Kayserili H, Basaran S. Uzumcu A, et al. Among authors: uyguner zo. Eur J Med Genet. 2009 Sep-Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19. Eur J Med Genet. 2009. PMID: 19460469

6

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. Kayserili H, et al. Among authors: uyguner zo. Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780. Am J Med Genet A. 2011. PMID: 21204229

7

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.

Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Kayserili H, et al. Among authors: uyguner zo. Am J Med Genet A. 2012 Jan;158A(1):236-44. doi: 10.1002/ajmg.a.34390. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140057

8

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.

Aydin HU, Altunoglu U, Uyguner ZO, Ozkan T, Kayserili H. Aydin HU, et al. Among authors: uyguner zo. J Plast Reconstr Aesthet Surg. 2013 Oct;66(10):e287-9. doi: 10.1016/j.bjps.2013.05.011. Epub 2013 Jun 1. J Plast Reconstr Aesthet Surg. 2013. PMID: 23732071 No abstract available.

9

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Aslanger AD, et al. Among authors: uyguner zo. Am J Med Genet A. 2014 Feb;164A(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24449201 Review.

10

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

Guven Y, Altunoglu U, Aktoren O, Uyguner ZO, Kayserili H, Kaewkahya M, Kantaputra PN. Guven Y, et al. Among authors: uyguner zo. Eur J Med Genet. 2014 Apr;57(5):240-6. doi: 10.1016/j.ejmg.2014.02.014. Epub 2014 Mar 12. Eur J Med Genet. 2014. PMID: 24631696

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