Onay H - Search Results

1

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene.

Ozkars MY, Keskın O, Bayram N, Onay H, Keskın M, Bayram H, Sahın Y, Küçükosmanoğlu E, Kırık S. Ozkars MY, et al. Among authors: onay h. Postepy Dermatol Alergol. 2019 Aug;36(4):403-411. doi: 10.5114/ada.2018.78898. Epub 2019 Aug 30. Postepy Dermatol Alergol. 2019. PMID: 31616213 Free PMC article.

2

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children.

Cosar H, Ozkinay F, Onay H, Bayram N, Bakiler AR, Anil M, Can D, Ozkinay C. Cosar H, et al. Among authors: onay h. Eur J Clin Microbiol Infect Dis. 2008 Dec;27(12):1165-9. doi: 10.1007/s10096-008-0573-8. Epub 2008 Jul 9. Eur J Clin Microbiol Infect Dis. 2008. PMID: 18612667

3

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Durmaz A, Atik T, Onay H, Canda EE, Uçar SK, Bademkıran F, Coker M, Coğulu Ö, Özkınay F. Durmaz A, et al. Among authors: onay h. Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1. Metab Brain Dis. 2014. PMID: 24788897

4

The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population.

Karaca E, Onay H, Cetinkalp S, Aykut A, Göksen D, Ozen S, Atik T, Darcan S, Tekin IM, Ozkınay F. Karaca E, et al. Among authors: onay h. Diabetes Metab Syndr. 2017 Nov;11 Suppl 1:S491-S496. doi: 10.1016/j.dsx.2017.03.042. Epub 2017 Mar 31. Diabetes Metab Syndr. 2017. PMID: 28395978

5

Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.

Mete Gökmen N, Gülbahar O, Onay H, Peker Koc Z, Özgül S, Köse T, Gelincik A, Büyüköztürk S, Sin AZ. Mete Gökmen N, et al. Among authors: onay h. Int Arch Allergy Immunol. 2019;178(1):50-59. doi: 10.1159/000492583. Epub 2018 Oct 2. Int Arch Allergy Immunol. 2019. PMID: 30278448

6

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

Kose E, Armagan C, Teke Kısa P, Onay H, Arslan N. Kose E, et al. Among authors: onay h. J Pediatr Endocrinol Metab. 2018 Nov 27;31(11):1289-1293. doi: 10.1515/jpem-2018-0280. J Pediatr Endocrinol Metab. 2018. PMID: 30307897

7

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations.

Atik T, Işık E, Onay H, Akgün B, Shamsali M, Kavaklı K, Evim M, Tüysüz G, Özbek NY, Şahin F, Salcıoğlu Z, Albayrak C, Oymak Y, Ünal E, Belen FB, Yılmaz Keskin E, Balkan C, Baytan B, Küpesiz A, Culha V, Tahtakesen Güçer TN, Güneş AM, Özkınay F. Atik T, et al. Among authors: onay h. Turk J Haematol. 2020 Aug 28;37(3):145-153. doi: 10.4274/tjh.galenos.2020.2019.0262. Epub 2020 Feb 6. Turk J Haematol. 2020. PMID: 32026663 Free PMC article.

8

Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance.

Mete Gökmen N, Rodríguez-Alcalde C, Gülbahar O, Lopez-Trascasa M, Onay H, López-Lera A. Mete Gökmen N, et al. Among authors: onay h. Immunol Cell Biol. 2020 Sep;98(8):693-699. doi: 10.1111/imcb.12362. Epub 2020 Jul 12. Immunol Cell Biol. 2020. PMID: 32445210

9

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.

Onay H, Bolat H, Kılıç Yıldırım G, Kose E, Kalkan Uçar S, Aşıkovalı S, Özkınay F, Çoker M. Onay H, et al. J Pediatr Endocrinol Metab. 2020 Aug 19;33(10):1245-1250. doi: 10.1515/jpem-2020-0056. J Pediatr Endocrinol Metab. 2020. PMID: 32813676 Review.

10

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.

Ozkinay F, Emecen DA, Kose M, Isik E, Bozaci AE, Canda E, Tuysuz B, Zubarioglu T, Atik T, Onay H. Ozkinay F, et al. Among authors: onay h. Mol Genet Metab Rep. 2021 Mar 12;27:100732. doi: 10.1016/j.ymgmr.2021.100732. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33747789 Free PMC article.

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