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Items: 23

1.

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.

Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U.

Pediatr Pulmonol. 2020 Feb;55(2):383-393. doi: 10.1002/ppul.24583. Epub 2019 Nov 25.

PMID:
31765523
2.

The Effect of Boron-Containing Nano-Hydroxyapatite on Bone Cells.

Gizer M, Köse S, Karaosmanoglu B, Taskiran EZ, Berkkan A, Timuçin M, Korkusuz F, Korkusuz P.

Biol Trace Elem Res. 2020 Feb;193(2):364-376. doi: 10.1007/s12011-019-01710-w. Epub 2019 May 8.

PMID:
31069715
3.

Ophthalmo-acromelic syndrome in an infant.

Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE.

Eur J Med Genet. 2019 Jul;62(7):103664. doi: 10.1016/j.ejmg.2019.05.003. Epub 2019 May 5. Review.

PMID:
31067494
4.

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I.

J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1.

PMID:
31043544
5.

Transcriptome analysis reveals differentially expressed genes between human primary bone marrow mesenchymal stem cells and human primary dermal fibroblasts.

Taşkiran EZ, Karaosmanoğlu B.

Turk J Biol. 2019 Feb 7;43(1):21-27. doi: 10.3906/biy-1808-81. eCollection 2019.

6.

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Taskiran EZ, Sonmez HE, Kosukcu C, Tavukcuoglu E, Yazici G, Esendagli G, Batu ED, Kiper POS, Bilginer Y, Alikasifoglu M, Ozen S.

J Clin Immunol. 2019 Jan;39(1):99-105. doi: 10.1007/s10875-018-0587-7. Epub 2019 Jan 8.

PMID:
30617623
7.

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K.

Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11.

PMID:
30217754
8.

Genetic testing for DADA2: How can we avoid missing patients?

Sönmez HE, Batu ED, Taşkıran EZ, Alikaşifoğlu M, Bilginer Y, Özen S.

Eur J Hum Genet. 2018 Nov;26(11):1563-1565. doi: 10.1038/s41431-018-0240-1. Epub 2018 Sep 11. No abstract available.

9.

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE.

Turk J Pediatr. 2018;60(1):1-9. doi: 10.24953/turkjped.2018.01.001.

10.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.

Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.

PMID:
30063090
11.

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ.

Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7. No abstract available.

PMID:
29107076
12.

Human bone marrow mesenchymal stem cells secrete endocannabinoids that stimulate in vitro hematopoietic stem cell migration effectively comparable to beta-adrenergic stimulation.

Köse S, Aerts-Kaya F, Köprü ÇZ, Nemutlu E, Kuşkonmaz B, Karaosmanoğlu B, Taşkıran EZ, Altun B, Uçkan Çetinkaya D, Korkusuz P.

Exp Hematol. 2018 Jan;57:30-41.e1. doi: 10.1016/j.exphem.2017.09.009. Epub 2017 Oct 10.

PMID:
29030083
13.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M.

Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8.

PMID:
28988429
14.

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G, Alikasifoglu M, Topaloglu H.

Neuropediatrics. 2017 Dec;48(6):477-481. doi: 10.1055/s-0037-1604483. Epub 2017 Aug 11. No abstract available.

PMID:
28800659
15.

HERC1 mutations in idiopathic intellectual disability.

Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M.

Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18.

PMID:
28323226
16.

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA.

Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28.

17.

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, Özen S.

J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024. No abstract available.

PMID:
26233953
18.

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F.

J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7.

19.

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA.

Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Review.

PMID:
24194475
20.

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.

Ozaltin F, Li B, Rauhauser A, An SW, Soylemezoglu O, Gonul II, Taskiran EZ, Ibsirlioglu T, Korkmaz E, Bilginer Y, Duzova A, Ozen S, Topaloglu R, Besbas N, Ashraf S, Du Y, Liang C, Chen P, Lu D, Vadnagara K, Arbuckle S, Lewis D, Wakeland B, Quigg RJ, Ransom RF, Wakeland EK, Topham MK, Bazan NG, Mohan C, Hildebrandt F, Bakkaloglu A, Huang CL, Attanasio M.

J Am Soc Nephrol. 2013 Feb;24(3):377-84. doi: 10.1681/ASN.2012090903. Epub 2012 Dec 28.

21.

The effect of colchicine on pyrin and pyrin interacting proteins.

Taskiran EZ, Cetinkaya A, Balci-Peynircioglu B, Akkaya YZ, Yilmaz E.

J Cell Biochem. 2012 Nov;113(11):3536-46. doi: 10.1002/jcb.24231.

PMID:
22730186
22.

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Topaloglu R, Taskiran EZ, Tan C, Erman B, Ozaltin F, Sanal O.

Clin Rheumatol. 2012 Jul;31(7):1123-6. doi: 10.1007/s10067-012-1978-4. Epub 2012 May 11.

PMID:
22576477
23.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium.

Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.

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