Karadeniz Teknik Üniversitesi
Akademik Veri Yönetim Sistemi
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SCI,SSCI,AHCI İNDEKSLERİNE GİREN DERGİLERDE YAYINLANAN MAKALELER
Altun E., Yayli S., Toraman B., Arica D.A., Kalay E., Selcuk L.B., et al., "HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study", ACTA DERMATOVENEROLOGICA CROATICA, vol.25, pp.189-194, 2017
Dinçer T., Budak G., Olmez A., Er İ., Dodurga Y., Ozdemir O.M.A., et al., "Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome", EUROPEAN JOURNAL OF HUMAN GENETICS, vol.25, pp.1118-1125, 2017
Şahin S., Cansu A., Kalay E., Dinçer T., Kul S., Çakir İ.M. , et al.,"Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings", JOURNAL OF THE NEUROLOGICAL SCIENCES, pp.54-58, 2016 (Link)
Mutlu M., Kalay E., Dilber B., Aslan Y., Dilber E., Almaani N., et al., "Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)", TURKISH JOURNAL OF PEDIATRICS, vol.57, pp.385-387, 2015
Weber M.L., Hsin H., Kalay E., Brozkova D.S., Shimizu T., Bayram M., et al., "Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay", BMC MEDICAL GENETICS, vol.15, 2014
Semerci C.N., Kalay E., Yildirim C., Dinçer T., Olmez A., Toraman B., et al., "Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia", BRITISH JOURNAL OF OPHTHALMOLOGY, vol.98, pp.832-840, 2014
Toraman B., Okten A., Kalay E., Karagüzel G., Dinçer T., Acikgoz E.G., et al., "Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation", GENE, vol.513, pp.202-208, 2013
Schraders M., Ruiz-Palmero L., Kalay E., Oostrik J., Del Castillo F.J., Sezgin O., et al., "Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment", AMERICAN JOURNAL OF HUMAN GENETICS, vol.91, pp.883-889, 2012
Kalay E., Sezgin O., Chellappa V., Mutlu M., Morsy H., Kayserili H., et al., "Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome", AMERICAN JOURNAL OF HUMAN GENETICS, vol.90, pp.76-85, 2012
Abidin İ., Yildirim M., Aydin-Abidin S., Kalay E., Cansu A., Akça M., et al., "Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: An in vivo electrophysiological study", BRAIN RESEARCH BULLETIN, vol.86, pp.159-164, 2011
Kalay E., Yigit G., Aslan Y., Brown K.E., Pohl E., Bicknell L.S., et al., "CEP152 is a genome maintenance protein disrupted in Seckel syndrome", NATURE GENETICS, vol.43, pp.23-26, 2011
Ahmed Z.M., Masmoudi S., Kalay E., Belyantseva I.A., Mosrati M.A., Collin R.W.J., et al., "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans", NATURE GENETICS, vol.40, pp.1335-1340, 2008
Collin R.W.J., Kalay E., Tariq M., Peters T., Van Der Zwaag B., Venselaar H., et al., "Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35", AMERICAN JOURNAL OF HUMAN GENETICS, vol.82, pp.125-138, 2008
Kalay E., Caylan R., Kiroglu A.F., Yasar T., Collin R.W.J., Heister J.G.A.M., et al., "A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4", JOURNAL OF MOLECULAR MEDICINE-JMM, vol.85, pp.397-404, 2007
Kalay E., Uzumcu A., Krieger E., Caylan R., Uyguner O., Ulubil-Emiroglu M., et al., "MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.143A, pp.2382-2389, 2007
Collin R.W.J., Kalay E., Oostrik J., Caylan R., Wollnik B., Arslan S., et al., "Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment", HUMAN MUTATION, vol.28, pp.718-723, 2007
White S.J., Vissers L.E.L.M., Van Kessel A.G., De Menezes R.X., Kalay E., Lehesjoki A.E., et al., "Variation of CNV distribution in five different ethnic populations", CYTOGENETIC AND GENOME RESEARCH, vol.118, pp.19-30, 2007
Kalay E., Li Y., Uzumcu A., Uyguner O., Collin R., Caylan R., et al., "Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss", HUMAN MUTATION, vol.27, pp.633-639, 2006
Kalay E., Caylan R., Kremer H., De Brouwer A., Karaguzel A., "Gjb2 Mutations In Turkish Patients With Arnshl: Prevalence And Two Novel Mutations", HEARING RESEARCH, vol.203, pp.88-93, 2005
Wattenhofer M., Sahin-Calapoglu N., Andreasen D., Kalay E., Caylan R., Braillard B., Fowler-Jaeger N., Reymond A., Rossier B., Karaguzel A., Antonarakis S., "A Novel Tmprss3 Missense Mutation In A Dfnb8/10 Family Prevents Proteolytic Activation Of The Protein", HUMAN GENETICS, vol.117, pp.528-535, 2005
Balci B., Gerceker F., Aksoy S., Sennaroglu G., Kalay E., Sennaroglu L., et al., "Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea region in Turkey", TURKISH JOURNAL OF PEDIATRICS, vol.47, pp.213-221, 2005
Kalay E., De Brouwer A., Caylan R., Nabuurs S., Wollnik B., Karaguzel A., et al., "A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome", JOURNAL OF MOLECULAR MEDICINE-JMM, vol.83, pp.1025-1032, 2005
Alver A., Ucar F., Keha E., Kalay E., Ovali E., "Effects Of Leptin And Insulin On Ca Iii Expression In Rat Adipose Tissue", JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY, vol.19, pp.279-281, 2004
Tan M., Sahin N., Kalay E., Calapoglu M., Karaguzel A., "Connexin 32 Mutation In A Turkish Family With X-Linked Charcot-Marie-Tooth Disease", INTERNATIONAL JOURNAL OF NEUROSCIENCE, vol.113, pp.777-785, 2003
Boz C., Sahin N., Kalay E., Velioglu S., Ozmenoglu M., "X-Linked Spinal And Bulbar Muscular Atrophy Without Proximal Atrophy", CLINICAL NEUROLOGY AND NEUROSURGERY, vol.105, pp.14-17, 2002
DİĞER DERGİLERDE YAYINLANAN MAKALELER
Kalay E., "Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).", The Turkish Journal of Pediatrics, pp.385-387, 2015
HAKEMLİ KONGRE / SEMPOZYUMLARIN BİLDİRİ KİTAPLARINDA YER ALAN YAYINLAR
Toraman B., Livaoğlu M., Dinçer T., Budak G., Nalkiran İ., Ünsal S., et al.,"Kalıtsal nonsendromik yarık dudak/damak hastalığında genetik etiyolojinin araştırılması", XV. Tıbbi Biyoloj ve Genetik Kongresi, MUĞLA, TÜRKIYE, 26-29 Ekim 2017, ss.225-225
Dinçer T., Boz A.B., Er İ., Budak G., Toraman B., Kalay E., "TGFß sinyal yolağının Reseptörle Etkileşen serin/tireonin Kinaz 4 (RIPK4) tarafından baskılanması", XV. Tıbbi Biyoloj ve Genetik Kongresi, MUĞLA, TÜRKIYE, 26-29 Ekim 2017, ss.97-97
Dinçer T., Budak G., Semerci C.N., Ölmez A. , Dodurga Y., Özmert Ö.M., et al.,"A novel splicing site mutation of PLK4 that is required for centriole biogenesis and genomic stability causes Seckel Syndrome.", The European Human Genetics Conference, BARSELONA, ISPANYA, 21-24 Mayıs 2016, pp.354-354 (Link)
Toraman B., Sümer C., Budak G., Dinçer T., Tural Hesapçıoğlu S. , Bilginer S.Ç., et al.,"Dengeli Resiprokal Translokasyonun Segregasyonu Sonucu Meydana Gelen İki farklı Genetik Fenotip: Otizm Spektrum Bozukluğu ve Mental Retardasyon", XIV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, MUĞLA, TÜRKIYE, 27-30 Ekim 2015, ss.111-111
Budak G., Şahin S., Dinçer T., Kamaşak T., Toraman B., Cansu A., et al.,"Mitokondriyal Bir Hastalık Olan Kombine Oksitatif Fosforilasyon Eksikliği 12’ye Neden Olan İki Yeni EARS2 Mutasyonu", XIV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, MUĞLA, TÜRKIYE, 27-30 Ekim 2015, ss.265-265
Altun E., Yayli S., Toraman B., Aksu Arica D., Kalay E., Bahadir S., "The evaluation of HLA-E gene polymorphisms in patients with pemphigus vulgaris", 24th EADV Congress, Kopenhag, DANIMARKA, 7-11 Ekim 2015, pp.1-1
Toraman B., Karagüzel G., Kalay E., Dinçer T., "A novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency", ESPE DUBLIN, Dublin, IRLANDA, 20-22 Eylül 2014, pp.1-7
Öztürk B., Hesapçıoğlu S., Toraman B., Göker Z., Bilginer Ç., Dinçer T., et al., "Otizm spektrum bozuklukların etiyolojisinde kromozomal anomaliler", 13.Ulusal Tıbbi Biyoloji ve Genetik Kongresi, AYDIN, TÜRKIYE, 27-30 Ekim 2013, ss.338-338
Kalay E., "A novel Mutation in RIPK4 Causes the Bartsocas-Papas Syndrome", 6. İstanbul Dismorfoloji Günleri (6th İstanbul Dysmorphology Days), İSTANBUL, TÜRKIYE, 3-4 Mayıs 2013, pp.102-102
Toroman B., Okten A., Kalay E., Karagüzel G., Dinçer T., Acikgoz E.G., et al.,"21-hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi hastalarında CYP21A2 mutasyon profilinin ayrıntılı araştırılması: Yeni bir kurucu mutasyon. ", XIII. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, AYDIN, TÜRKIYE, 27-30 Ekim 2013, ss.119-120
Yorgancioğlu G., Hülya K., Toraman B., Dinçer T., Kandil S., Bilginer Ç., et al.,"Sendromik mental retardasyonlu bir ailede de-novo PQBP1 (polyglutamine binding protein 1) mutasyonu", XIII. Ulusal Tıbbi Biyoloji ve Genetik Kongresi , AYDIN, TÜRKIYE, 27-30 Ekim 2013, ss.112-112
Kalay E., "Homozygous Mutation in ALDH1A3 Encoding Aldehyde Dehydrogenase 1A3 Causes Extreme Microphthalmia.", 6. İstanbul Dismorfoloji Günleri (6th İstanbul Dysmorphology Days), İSTANBUL, TÜRKIYE, 3-4 Mayıs 2013, pp.101-101
Abidin İ., Yildirim M., Aydin-Abidin S., Kalay E., Mittmann T., "Beyin Kaynaklı Nörotrofik Faktör (BDNF) heterozigot fare beyin korteksinde azalmış inhibisyon/eksitasyon dengesi ve farklı epilepsi benzeri aktivite özellikleri. ", 24. Ulusal Biyofizik Kongresi, İSTANBUL, TÜRKIYE, 25-28 Eylül 2012, ss.35-35
Kalay E., "Somatic Mutations of RIPK4/PKK Drive NF-kappaB Dependent Cancers while Germline Variants Compromise NF-kappaB Signaling in an Inherited Syndrome Involving Defective Epidermal Differentiation, NF-kappaB Signaling and Biology: ", From Bench to Bedside. , British Columbia, KANADA, 18-23 Mart 2012, pp.120-120
Tural Hesapçioğlu S., Göker Z., Yenisey F., Köseahmet T., Turan N., Sarp K.S., et al.,"Otistik Spektrum Bozukluklarında Kromozomal Düzensizlikler", 20. Ulusal Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları Kongresi, MUĞLA, TÜRKIYE, 25-28 Nisan 2010, ss.1-1
Kalay E., "Identification of the gene causing autosomal recessive non-syndromic hearing impairment DFNB35. ", 6th Molecular Biologyof Hearing & Deafness Conference , Hinxton, INGILTERE, 11-14 Temmuz 2007, pp.591-591
Kalay E., "Mutations in GJB2, TMC1, TMPRSS3 and MYO15A cause autosomal recessive nonsyndromic hearing loss in Turkish patients. ", European Human Genetics Conference, Amsterdam, HOLLANDA, 6-9 Mayıs 2006, pp.141-141
Kalay E., "Distribution of recurrent copy number variation in different ethnic population", European Human Genetics Conference, Amsterdam, HOLLANDA, 6-9 Mayıs 2006, pp.150-150
Kalay E., "A novel D458V mutatation in the SANS PDZ-binding motif causes atypical usher syndrome. ", 5th Molecular Biology of Hearing and Deafness, Bethesta, Maryland, ABD, 30 Eylül 2004 - 3 Kasım 2006, pp.100-100
Kalay E., ". Mutations causing autosomal recessive hearing loss in Turkish patients.", 5th Molecular Biology of Hearing and Deafness, Bethesta, Maryland, ABD, 30 Eylül - 3 Kasım 2004, pp.250-250
Kalay E., "Cytokine gene polymorphisms in Turkis patients with crohn’s disease. 18th Europian Histocompatibility Conference. ", 18th Europian Histocompatibility Conference. (Gene and Immunity), Sofia, BULGARISTAN, 8-11 Mayıs 2004, pp.88-89
Kalay E., "The CARD15 (NOD2) gene 3020insC mutations in Turkish patients with Inflammatory Bowel Disease. ", 12th world congress of the international association of surgeons and gastroentero logists. Hepato-Gastroenterology. , Soya, BULGARISTAN, 30 Ekim - 4 Kasım 2002, pp.34-34
Kalay E., "Chromosomal analysis in infertility.", 5th Balkan Meeting on Human Genetics, Sofia, BULGARISTAN, 29 Eylül - 1 Ekim 2002, pp.95-95
Kalay E., "A rapid and cost-effectic protocol for detection of common deafness mutation 35delG in the connexin 26 (GJB2) gene.", st Eurasıan congress on molecular biotechnology., TRABZON, TÜRKIYE, 17-20 Aralık 2001, pp.45-45
Kalay E., "Connexin32 gene mutation in Turkish family with X-linked charcot-marie-tooth disease. ", 9th Meeting of the European Society of Gene Therapy, ANTALYA, TÜRKIYE, 2-4 Ekim 2001, pp.88-88
DİĞER YAYINLAR
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