Kalay E - Search Results

1

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. Kalay E, et al. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131973 Free PMC article.

2

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. Kalay E, et al. Am J Hum Genet. 2012 Jan 13;90(1):76-85. doi: 10.1016/j.ajhg.2011.11.014. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197489 Free PMC article.

3

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E. Dinçer T, et al. Among authors: kalay e. Eur J Hum Genet. 2017 Oct;25(10):1118-1125. doi: 10.1038/ejhg.2017.120. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832566 Free PMC article.

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. 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

Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.

Sahin N, Tan M, Kalay E, Calapoglu M, Karaguzel A. Sahin N, et al. Among authors: kalay e. Int J Neurosci. 2003 Jun;113(6):777-85. doi: 10.1080/00207450390200972. Int J Neurosci. 2003. PMID: 12775342

6

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A. Toraman B, et al. Among authors: kalay e. Gene. 2013 Jan 15;513(1):202-8. doi: 10.1016/j.gene.2012.10.059. Epub 2012 Nov 7. Gene. 2013. PMID: 23142378

7

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Dinçer T, Gümüş E, Toraman B, Er İ, Yildiz G, Yüksel Z, Kalay E. Dinçer T, et al. Among authors: kalay e. Am J Med Genet A. 2021 Jun;185(6):1691-1699. doi: 10.1002/ajmg.a.62154. Epub 2021 Mar 13. Am J Med Genet A. 2021. PMID: 33713555

8

RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells.

Dinçer T, Boz Er AB, Er İ, Toraman B, Yildiz G, Kalay E. Dinçer T, et al. Among authors: kalay e. Cell Biol Int. 2020 Mar;44(3):848-860. doi: 10.1002/cbin.11282. Epub 2019 Dec 19. Cell Biol Int. 2020. PMID: 31825120

9

Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy.

Boz C, Kalay E, Sahin N, Velioglu S, Ozmenoglu M, Karagüzel A. Boz C, et al. Among authors: kalay e. J Clin Neuromuscul Dis. 2004 Mar;5(3):115-8. doi: 10.1097/00131402-200403000-00001. J Clin Neuromuscul Dis. 2004. PMID: 19078730

10

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA. Semerci CN, et al. Among authors: kalay e. Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25. Br J Ophthalmol. 2014. PMID: 24568872

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

52 results

Search Page

Filters