Metrikler
Yayın
46
Açık Erişim
2
BM Sürdürülebilir Kalkınma Amaçları
Makaleler
Tümü (27)
SCI-E, SSCI, AHCI (11)
SCI-E, SSCI, AHCI, ESCI (15)
ESCI (4)
Scopus (22)
TRDizin (5)
2024
20241. Letter to the Editor regarding “New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.
DÜZENLİ T., SEZER A., PERÇİN F. E.
American Journal of Medical Genetics, Part A
, cilt.194, sa.4, 2024 (SCI-Expanded, Scopus)
2023
20232. Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder
SEZER A., KAYHAN G., Percin F. E.
European Journal of Medical Genetics
, cilt.66, sa.9, 2023 (SCI-Expanded, Scopus)
2023
20233. Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
DÜZENLİ T., Sezer A., KAYHAN G., ARSLAN A., Percin F. E.
American journal of medical genetics. Part A
, cilt.191, sa.8, ss.2232-2239, 2023 (SCI-Expanded, Scopus)
2023
20234. A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease
Sezer A., KAYHAN G., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., PERÇİN F. E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.191, sa.1, ss.220-227, 2023 (SCI-Expanded, Scopus)
2022
20225. A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities
Sezer A., Perçin F. E., Kazan H. H., Kayhan G., Akturk M. Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.188, sa.6, ss.1890-1895, 2022 (SCI-Expanded, Scopus)
2020
20206. An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge
Sezer A., Ogutlu O. B. G., TÜRKYILMAZ Z., GÜCÜYENER K., KAYHAN G., PERÇİN F. E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, ss.895, 2020 (SCI-Expanded, Scopus)
2020
20207. The first patient with mesomelic dysplasia and urogenital abnormalities associated with a de novo heterozygous variant in HOXA11 gene
Sezer A., Percin F. E., Kazan H. H., KAYHAN G., AKTÜRK M. Y.
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.466, 2020 (SCI-Expanded, Scopus)
2020
20208. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
Sezer A., Kayhan G., Koc A., Ergün M. A., Perçin F. E.
CYTOGENETIC AND GENOME RESEARCH
, cilt.160, sa.6, ss.309-315, 2020 (SCI-Expanded, Scopus)
2020
20209. 15-LOX-1 has diverse roles in the resensitization of resistant cancer cell lines to doxorubicin
Kazan H. H., Urfali-Mamatoglu C., Yalcin G. D., Bulut O., SEZER A., BANERJEE S., et al.
JOURNAL OF CELLULAR PHYSIOLOGY
, cilt.235, sa.5, ss.4965-4978, 2020 (SCI-Expanded, Scopus)
2020
202010. Two patients with Epidemolisis Bullosa
SAVAŞ A., SEZER A., KAYHAN G., ADIŞEN E., PERÇİN F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI, Scopus)
2020
202011. A report of two siblings diagnosed with Cutis Laxa
GÜNDOĞDU ÖĞÜTLÜ Ö. B., SEZER A., DEMİRBAŞ M. H., KAYHAN G., PERÇİN F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI, Scopus)
2020
202012. Two new patients diagnosed with Trichothiodystrophy type 1
Sezer A., Kayhan G., Gücüyener K., Bideci A., Perçin F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI, Scopus)
2020
202013. SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması
SEZER A., DEMİR E., KAYHAN G., ERGÜN M. A., TUĞ E.
Gazi Medical Journal , 2020 (ESCI, Scopus)
2019
201914. Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
SEZER A., KAYHAN G., Zenker M., Percin E. F.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, cilt.62, sa.12, 2019 (SCI-Expanded, Scopus)
2019
201915. Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene
DÖĞER E., SEZER A., Ugurlu A., Akbas E. D., Percin F. E., BİDECİ A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, ss.303-304, 2019 (SCI-Expanded, Scopus)
2019
201916. A rare form of interstitial deletion of chromosome 9q21.33q22.31: A case report
SEZER A., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)
2019
201917. ADNP Gene in the Etiology of Syndromic Autism: A case report
SEZER A., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)
2018
201818. A PATIENT WITH TWO SYNDROMES DUE TO PATERNALUNIPARENTAL DISOMY OF CHROMOSOME 2 (pUPD2)RELATED WITH HOMOZYGOUS NOVEL MUTATIONS OF THERAB3GAP1 AND UNC80 GENES
PERÇİN F. E., KAYHAN G., SEZER A., KOÇ A., ERGÜN M. A.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, ss.35-79, 2018 (TRDizin)
2018
201819. A patıent wıth two syndromes due to paternal unıparental dısomy of chromosome 2 (pUPD2) related wıth homozygous novel mutatıons of the RAB3GAP1 and UNC80 genes
Perçin F. E., Kayhan G., Sezer A., Koc A., Ergün M. A.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, ss.69, 2018 (TRDizin)
2018
201820. Lethal multiple pterygıum syndrome related with RYR1 gene mutation
KAYHAN G., SEZER A., ÖZDEMİR H., ERGÜN M. A., BAYRAM M., YİRMİBEŞ KARAOĞUZ M., et al.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)
2018
201821. HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q
SEZER A., KAYHAN G., MERMER S., ERGÜN M. A., PERÇİN F. E.
Erciyes Medical Journal , cilt.40, sa.2, ss.35-79, 2018 (TRDizin)
2018
201822. Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon
KAYHAN G., SEZER A., Ozdemır H., ERGÜN M. A., BAYRAM M., YİRMİBEŞ KARAOĞUZ M., et al.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)
2018
201823. LETHAL MULTIPLE PTERYGIUM SYNDROME RELATED WITHRYR1 GENE MUTATION
KAYHAN G., SEZER A., ÖZDEMİR H., ERGÜN M. A., BAYRAM M., YİRMİBEŞ KARAOĞUZ M., et al.
Erciyes Medical Journal , cilt.40, sa.2, ss.70-73, 2018 (TRDizin)
2018
201824. Background of a carrier family with along inversion of chromosome 2 detected via karyotyping and aCGH analysis
YİRMİBEŞ KARAOĞUZ M., SEZER A., KAYHAN G.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)
2018
201825. Haploınsuffıcıency of ZNF462 gene ın a patıent wıth ınterstıtıal deletıon of chromosome 9q
Sezer A., Kayhan G., Mermer S., Ergün M. A., Perçin F. E.
ERCIYES TIP DERGISI , cilt.40, sa.2, ss.51, 2018 (Scopus)
2018
201826. Clinical findings of the two fetuses with the pericentric inversion of chromosome Y relevant or coincidental
SAVAŞ A., SEZER A., KAYHAN G., YİRMİBEŞ KARAOĞUZ M.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)
2017
201727. A report of two infertile patients with isodicentric short arm of chromosome Y
KAYHAN G., ALTAN M., SEZER A., ERGÜN M. A., YİRMİBEŞ KARAOĞUZ M.
ERCIYES MEDICAL JOURNAL , cilt.39, ss.51, 2017 (TRDizin)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2022
20221. Patient Series of Multiple Molecular Diagnoses: A Single-Center Experience
KAYHAN G., Ogutlu O. B., Sezer A., Percin F.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, cilt.31, ss.269, (Özet Bildiri)
2020
20202. SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması.
SEZER A., DEMİR E., KAYHAN G., ERGÜN M. A., TUĞ E.
14. Ulusal Tıbbi Genetik Kongresi“Uluslararası Katılımlı”, Türkiye, 20 - 22 Kasım 2020, (Tam Metin Bildiri)
2019
20193. Herediter Sapastik Parapleji: 6 olgu sunumu
Menderes D., Erçelebi H., Özbudak P., Sezer A., Perçin F. E., Demir E., et al.
3. Nöromusküler Hastalıklar Kongresi, İzmir, Türkiye, 1 - 03 Kasım 2019, ss.25, (Özet Bildiri)
2019
20194. WES analizi ile otozomal resesif herediter spastik parapleji tanısı alan altı yeni hasta
Sezer A., Kayhan G., Gücüyener K., Erçelebi H., Cengiz B., Ergün M. A., et al.
3. Nöromusküler Hastalıklar Kongresi, İzmir, Türkiye, 1 - 03 Kasım 2019, ss.122-123, (Özet Bildiri)
2019
20195. SLC25A4 ilişkili bir aksiyel miyopati olgusu: Yeni bir fenotip
ERÇELEBİ H., SEZER A., ERDEM ÖZDAMAR S., ERGÜN M. A., DEMİR E.
3. Nöromusküler Hastalıklar Kongresi, 1-3 Kasım 2019, Çeşme, İzmir, Türkiye, 1 - 03 Kasım 2019, (Özet Bildiri)
2019
20196. KONJENİTAL JENERALİZE LİPODİSTROFİ TİP 4 - CAVIN1 GENİNDEYENİ MUTASYON
DÖĞER E., SEZER A., KILINÇ UĞURLU A., DEMET AKBAŞ E., PERÇİN F. E., BİDECİ A., et al.
3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019, (Özet Bildiri)
2018
20187. Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient
Perçin F. E., Kayhan G., Sezer A., Koç A., Ergün M. A.
51st Conference of Theocharis European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385, (Özet Bildiri)
2017
20178. IS HYPOPIGMENTED SKIN PATCH A NEW SYMPTOM OFROBERTS / SC PHOCOMELIA SYNDROME?
SEZER A., KAYHAN G., SARI S., PERÇİN F. E.
Erciyes Medical Genetics Days 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, cilt.39, ss.48, (Özet Bildiri)
2017
20179. Is there any relationship between NRG1 gene duplication and cardiac findings in two prenatal cases with invdupdel(8p) syndrome?
SEZER A., BAYRAM M., KAYHAN G., ÜNAL A., ÖZDEMİR H., KARÇAALTINCABA D., et al.
European Human Genetics Conference, Kopenhag, Danimarka, Kopenhag, Danimarka, 27 - 30 Mayıs 2017, (Özet Bildiri)
2016
201610. Disentrik ve Neosentrik Kromozomal Yeniden Düzenlenimle Sonuçlanan 4 9 Resiprokal Translokasyonlu İnfertil Olgu
TUĞ E., SEZER A., YİRMİBEŞ KARAOĞUZ M.
XII. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016, (Tam Metin Bildiri)