Altunoglu U - Search Results

1

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.

Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B. Escande-Beillard N, et al. Among authors: altunoglu u. Neuron. 2020 Jul 8;107(1):82-94.e6. doi: 10.1016/j.neuron.2020.03.028. Epub 2020 Apr 23. Neuron. 2020. PMID: 32330411 Free 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

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.

4

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

5

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

6

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

7

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: altunoglu u. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.

8

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

9

ALX4 related parietal foramina mimicking encephalocele in prenatal period.

Saraç Sivrikoz T, Altunoglu U, Kalelioglu İH, Yüksel A, Uyguner OZ, Has R, Kayserili H. Saraç Sivrikoz T, et al. Among authors: altunoglu u. Prenat Diagn. 2016 Jun;36(6):591-3. doi: 10.1002/pd.4826. Epub 2016 May 17. Prenat Diagn. 2016. PMID: 27080046 No abstract available.

10

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.

Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B. Bögershausen N, et al. Among authors: altunoglu u. Am J Med Genet A. 2016 Dec;170(12):3282-3288. doi: 10.1002/ajmg.a.37931. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530281

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