Özer E - Search Results

1

Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD.

Lebedeva E, Stingl JC, Thal DR, Ghebremedhin E, Strauss J, Özer E, Bertram L, von Einem B, Tumani H, Otto M, Riepe MW, Högel J, Ludolph AC, von Arnim CA. Lebedeva E, et al. Among authors: ozer e. Neurobiol Aging. 2012 Jan;33(1):201.e9-18. doi: 10.1016/j.neurobiolaging.2010.07.017. Epub 2010 Sep 18. Neurobiol Aging. 2012. PMID: 20850903

2

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.

Uttner I, Kirchheiner J, Tumani H, Mottaghy FM, Lebedeva E, Ozer E, Ludolph AC, Huber R, von Arnim CA. Uttner I, et al. Among authors: ozer e. Eur J Neurol. 2010 Apr;17(4):631-3. doi: 10.1111/j.1468-1331.2009.02810.x. Epub 2009 Nov 12. Eur J Neurol. 2010. PMID: 19912322

3

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.

Ozer EA, Kaya A, Yildirimer M, Guler O, Can S, Aydinlioglu H. Ozer EA, et al. Eur J Pediatr. 2009 Mar;168(3):367-9. doi: 10.1007/s00431-008-0778-y. Epub 2008 Jul 5. Eur J Pediatr. 2009. PMID: 18604556

4

Assessment of myocardial dysfunction in neonates with hypoxic-ischemic encephalopathy: is it a significant predictor of mortality?

Kanik E, Ozer EA, Bakiler AR, Aydinlioglu H, Dorak C, Dogrusoz B, Kanik A, Yaprak I. Kanik E, et al. Among authors: ozer ea. J Matern Fetal Neonatal Med. 2009 Mar;22(3):239-42. doi: 10.1080/14767050802430834. J Matern Fetal Neonatal Med. 2009. PMID: 19330708 Free article.

5

Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.

Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M. Sivasli O, et al. Among authors: ozer ea, ozer a. Genet Couns. 2007;18(2):247-50. Genet Couns. 2007. PMID: 17710878

6

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Ozer EA, Aksu N, Uclar E, Erdogan H, Bakiler AR, Tsuda M, Kitasawa E, Coker M, Ozer E. Ozer EA, et al. Among authors: ozer e. Pediatr Nephrol. 2003 Apr;18(4):397-8. doi: 10.1007/s00467-003-1085-5. Epub 2003 Mar 11. Pediatr Nephrol. 2003. PMID: 12700970

7

A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.

Ozer EA, Aksu N, Erdogan H, Yavascan O, Kara O, Gribouval O, Gubler MC, Antignac C. Ozer EA, et al. Nephrology (Carlton). 2004 Oct;9(5):310-2. doi: 10.1111/j.1440-1797.2004.00324.x. Nephrology (Carlton). 2004. PMID: 15504144

8

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA. Cosar H, et al. Among authors: ozer ea. Clin Dysmorphol. 2011 Oct;20(4):187-189. doi: 10.1097/MCD.0b013e328348836c. Clin Dysmorphol. 2011. PMID: 21691203

9

Escherichia coli brain abscess in a twin pair associated with TLR4 gene mutation.

Erdemir A, Kahramaner Z, Cosar H, Turkoglu E, Sutcuoglu S, Uygun DK, Yegin O, Berdeli A, Ozer EA. Erdemir A, et al. Among authors: ozer ea. Pediatr Int. 2013 Aug;55(4):516-8. doi: 10.1111/ped.12032. Pediatr Int. 2013. PMID: 23910802

10

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Atabay B, Turker M, Ozer EA, Mahadeo K, Diop-Bove N, Goldman ID. Atabay B, et al. Pediatr Hematol Oncol. 2010 Nov;27(8):614-9. doi: 10.3109/08880018.2010.481705. Pediatr Hematol Oncol. 2010. PMID: 20795774 Free PMC article.

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