Altunoglu U - Search Results

1

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.

Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Toksoy G, et al. Among authors: altunoglu u. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. Neuromuscul Disord. 2019. PMID: 31443951

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

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

9

Mutations in CDK5RAP2 cause Seckel syndrome.

Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bögershausen N, Uyguner ZO, Altunoglu U, Nürnberg G, Nürnberg P, Rauch A, Li Y, Thiel CT, Wollnik B. Yigit G, et al. Among authors: altunoglu u. Mol Genet Genomic Med. 2015 Sep;3(5):467-80. doi: 10.1002/mgg3.158. Epub 2015 May 24. Mol Genet Genomic Med. 2015. PMID: 26436113 Free PMC article.

10

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Kayserili H, Altunoglu U, Yesil G, Rosti RÖ. Kayserili H, et al. Among authors: altunoglu u. Am J Med Genet A. 2016 Jun;170(6):1391-9. doi: 10.1002/ajmg.a.37652. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075597

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

80 results

Search Page

Filters