Altunoglu U - Search Results

1

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S. Karaman B, et al. Among authors: altunoglu u. Mol Cytogenet. 2018 Aug 17;11:45. doi: 10.1186/s13039-018-0395-z. eCollection 2018. Mol Cytogenet. 2018. PMID: 30140312 Free PMC article.

2

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: altunoglu u. 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

3

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: altunoglu u. 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.

4

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Schanze D, et al. Among authors: altunoglu u. Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357607 No abstract available.

5

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: altunoglu u. 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.

6

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: altunoglu u. 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

7

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Altunoglu U, et al. 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

8

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. Schaffer AE, et al. Among authors: altunoglu u. Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049. Cell. 2014. PMID: 24766810 Free PMC article.

9

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H. Uyguner ZO, et al. Among authors: altunoglu u. Eur J Med Genet. 2015 Jun-Jul;58(6-7):358-63. doi: 10.1016/j.ejmg.2015.05.003. Epub 2015 May 23. Eur J Med Genet. 2015. PMID: 26007620

10

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Among authors: altunoglu u. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.

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