Eğitim    |   Yayınlar   |   Araştırmalar   |    Dersler    |   Ödüller    

YAYIN

Son 3 yıldaki yayınları

2011

1. Eker MC, Kitis O, Okur H, Eker OD, Ozan E, Isikli S, Akarsu N, Gonul AS. Smaller hippocampus volume is associated with short variant of 5-HTTLPR polymorphism in medication-free major depressive disorder patients. Neuropsychobiology 2011;63(1):22-8.

2010

1. Gundesli H, Talim B, Korkusuz P. Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal recessive limb-girdle muscular dystrophy. Am J Hum Genet, 2010; 87(6):834-41.
2. Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA.  Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.  Am J Hum Genet, 2010; 86(5):789-96.
3. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010; 86(4):551-9.
4. Tunçbilek G, Alanay Y, Uzun H, Kayikçioğlu A, Akarsu NA, Benli K. Intracranial and extracranial malformations in patients with craniofacial anomalies. J Craniofac. Surg. 2010; 21(5):1460-4.
5. Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA. Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. Am J Med Genet A. 2010; 152A(10):2628-33.
6. Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet. 2010;3(1):10.
7. Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.  Hum Mutat. 2010; 31(1):81-9.
8. Ozan E, Okur H, Eker C, Eker OD, Gönül AS, Akarsu N. The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels.Brain Res Bull. 2010;81(1):61-5.

2009

1. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet, 2009; 18:4357-4366.
2. Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. Clin. Genet. 2009;76(1):85-90.
3. Oner AF, Okur H, Balta G, Unal S, Deger I, Akarsu N, Gurgey A. Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene. Leuk Res. 2009; 33(9):e152-3 (Research Letter).
4. Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.Acta Ophthalmol. 2009; 87(1):52-7

2008

1. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A. 2008; 105(11):4232-6.
2. Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, Sayli T, Unal S, Gurgey A. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.Leuk Res. 2008; 32(6):972-5.
3. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA.  Skewed X-inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. Br. J. Ophthalmol. 2008; 92: 135-141

     
Copyright © 2011 gen.hacettepe.edu.tr All Rights Reserved