Aykut A - Search Results

1

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.

Kutukculer N, Aykut A, Karaca NE, Durmaz A, Aksu G, Genel F, Pariltay E, Cogulu Ö, Azarsız E. Kutukculer N, et al. Among authors: aykut a. Scand J Immunol. 2019 Feb;89(2):e12737. doi: 10.1111/sji.12737. Epub 2019 Jan 23. Scand J Immunol. 2019. PMID: 30506560 Free article.

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

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

4

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

5

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

6

Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis.

Cogulu O, Pariltay E, Durmaz AA, Aykut A, Gunduz C, Ozbaran B, Aydin HH, Erermis S, Aydin C, Ozkinay F. Cogulu O, et al. Among authors: aykut a. J Neuropsychiatry Clin Neurosci. 2012 Winter;24(1):E13-4. doi: 10.1176/appi.neuropsych.11010027. J Neuropsychiatry Clin Neurosci. 2012. PMID: 22450627 No abstract available.

7

Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies.

Cogulu O, Pariltay E, Koroglu OA, Aykut A, Ozyurek R, Levent E, Kultursay N, Ozkinay F. Cogulu O, et al. Among authors: aykut a. Genet Couns. 2013;24(1):85-91. Genet Couns. 2013. PMID: 23610870

8

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F. Aykut A, et al. Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22. Gene. 2013. PMID: 23618813

9

A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.

Zeytinoglu M, Aykut A, Hazan F, Torrente I, Akay MC, Karapinar DY, Vergin C, Cogulu O, Ozkinay F. Zeytinoglu M, et al. Among authors: aykut a. Clin Dysmorphol. 2013 Oct;22(4):140-142. doi: 10.1097/MCD.0b013e3283633831. Clin Dysmorphol. 2013. PMID: 23924873 No abstract available.

10

Determination of fetal rhesus d status by maternal plasma DNA analysis.

Aykut A, Onay H, Sagol S, Gunduz C, Ozkinay F, Cogulu O. Aykut A, et al. Balkan J Med Genet. 2013 Dec;16(2):33-8. doi: 10.2478/bjmg-2013-0029. Balkan J Med Genet. 2013. PMID: 24778561 Free PMC article.

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