Uzümcü A - Search Results

1

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: uzumcu a. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549

2

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: uzumcu a. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574

3

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: uzumcu a. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

4

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H. Kalay E, et al. Among authors: uzumcu a. Am J Med Genet A. 2007 Oct 15;143A(20):2382-9. doi: 10.1002/ajmg.a.31937. Am J Med Genet A. 2007. PMID: 17853461

5

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. Tukel T, et al. Among authors: uzumcu a. J Med Genet. 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. J Med Genet. 2005. PMID: 15863670 Free PMC article.

6

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. Uyguner O, et al. Among authors: uzumcu a. Clin Genet. 2003 Jul;64(1):65-9. doi: 10.1034/j.1399-0004.2003.00101.x. Clin Genet. 2003. PMID: 12791041

7

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. 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

8

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. J Genet Genomics. 2009 Apr;36(4):251-6. doi: 10.1016/S1673-8527(08)60112-5. J Genet Genomics. 2009. PMID: 19376485

9

Ataxia with vitamin E deficiency associated with deafness.

Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H. Kara B, et al. Among authors: uzumcu a. Turk J Pediatr. 2008 Sep-Oct;50(5):471-5. Turk J Pediatr. 2008. PMID: 19102053

10

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B. Uzumcu A, et al. J Med Genet. 2006 Feb;43(2):e5. doi: 10.1136/jmg.2005.032904. J Med Genet. 2006. PMID: 16467215 Free PMC article.

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