Aykut A - Search Results

1

Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.

Aykut A, Karaca E, Onay H, Gökşen D, Çetinkalp Ş, Eren E, Ersoy B, Çakır EP, Büyükinan M, Kara C, Anık A, Kırel B, Özen S, Atik T, Darcan Ş, Özkınay F. Aykut A, et al. Gene. 2018 Jan 30;641:186-189. doi: 10.1016/j.gene.2017.10.057. Epub 2017 Oct 19. Gene. 2018. PMID: 29056535

2

Two cases of macrocephaly and immune deficiency.

Cogulu O, Aykut A, Kutukculer N, Ozkinay C, Ozkinay F. Cogulu O, et al. Among authors: aykut a. Clin Dysmorphol. 2007 Apr;16(2):81-84. doi: 10.1097/MCD.0b013e3280464ee6. Clin Dysmorphol. 2007. PMID: 17351349

3

Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction.

Onay H, Ugurlu T, Aykut A, Pehlivan S, Inal M, Tinar S, Ozkinay C, Ozkinay F. Onay H, et al. Among authors: aykut a. Gynecol Obstet Invest. 2008;66(2):104-10. doi: 10.1159/000128598. Epub 2008 Apr 29. Gynecol Obstet Invest. 2008. PMID: 18446039

4

An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

Aykut A, Cogulu O, Ekmekci AY, Ozkinay F. Aykut A, et al. Genet Couns. 2008;19(2):237-40. Genet Couns. 2008. PMID: 18618999

5

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Cogulu O, Onay H, Aykut A, Wilson NJ, Smith FJ, Dereli T, Ozkinay F. Cogulu O, et al. Among authors: aykut a. Eur J Pediatr. 2009 Oct;168(10):1269-72. doi: 10.1007/s00431-008-0908-6. Epub 2008 Dec 24. Eur J Pediatr. 2009. PMID: 19107515

6

Reasons for adult referrals for genetic counseling at a genetics center in Izmir, Turkey: analysis of 8965 cases over an eleven-year period.

Cogulu O, Ozkinay F, Akin H, Onay H, Karaca E, Durmaz AA, Durmaz B, Aykut A, Pariltay E, Kirbiyik O, Gunduz C, Ozkinay C. Cogulu O, et al. Among authors: aykut a. J Genet Couns. 2011 Jun;20(3):287-93. doi: 10.1007/s10897-010-9342-9. Epub 2011 Jan 8. J Genet Couns. 2011. PMID: 21221751

7

Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney.

Aykut A, Cogulu O, Ozkinay F. Aykut A, et al. Genet Couns. 2012;23(1):77-80. Genet Couns. 2012. PMID: 22611646 No abstract available.

8

Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.

Kazandi M, Turan V, Selvi Demirtas G, Akercan F, Aykut A, Ozkinay F. Kazandi M, et al. Among authors: aykut a. Arch Iran Med. 2012 Jul;15(7):449-51. Arch Iran Med. 2012. PMID: 22724884

9

A cardio-facio-cutaneous syndrome case with tight Achilles tendons.

Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F. Hazan F, et al. Among authors: aykut a. Genet Couns. 2012;23(2):305-11. Genet Couns. 2012. PMID: 22876591

10

Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.

Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F. Karaca E, et al. Among authors: aykut a. J Pediatr Endocrinol Metab. 2012;25(9-10):957-62. doi: 10.1515/jpem-2012-0155. J Pediatr Endocrinol Metab. 2012. PMID: 23426826

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