Yayınlar

Yayın Adı Bölümazalan sırada Birim Yayın Türü İndeksi Tarihi
Lahut, S., Omur, O., Gispert, S., Pirkevi, C., Tireli, H., Herrmann, E., Brehm, N., Başak, A.N., Auburger, G., 'A large Turkish Parkinson pedigree with alpha-synuclein duplication: blood expression biomarker profile for predictive diagnostics', European Journal of Neurology,  Meeting Abstract: OS2114, 21, 54-54, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Lahut, S.; Vadasz, D.; Depboylu, C.; Basak, A.N.; et al.,'The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome',Neurogenetics, 15, 3, 1-19, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Özoğuz, A., Uyan, O., Birdal, G., İskender, C., Omur, O., Lahut, S., Agim, Z.S., Kartal, E., Basak, A.N. et al. 'The distinct genetic pattern of ALS in Turkey', European Journal of Neurology,  Meeting Abstract: OS2207, 21, 63-63, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Özoğuz, A., Uyan, O., Birdal, G., İskender, C., Omur, O., Lahut, S., Agim, Z.S., Kartal, E., Başak, A.N. et al. 'The distinct genetic pattern of ALS in Turkey', Journal of Neurology,  Meeting Abstract: OS2207, 261, S47-S47, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Potier D, Davie K, Hulselmans G, Naval Sanchez M, Haagen L, Huynh-Thu VA, Duygu Koldere D, Celik A, Geurts P, Christiaens V, Aerts S, Mapping Gene Regulatory Networks in Drosophila Eye Development by Large-Scale Transcriptome Perturbations and Motif Inference, Cell Reports, 9, 1-14, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Durlu YK, Köroğlu Ç, Tolun A, Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation, JAMA Ophthalmology, 0, 1-7, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Erken E, Köroğlu Ç, Yıldız F, Ozer HT, Gülek B, Tolun A, A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy, Modern Rheumatology, 0, 1-9, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Kara B, Ayhan Özgecan, Gökçay G, Başboğa N, Tolun Aslıhan, Adult phenotype and further phenotypic variability in SRD5A3-CDG, BMC Med Genet, 15, 10, online dergi, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Özgecan Ayhan,Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun, Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia, Journal of Medical Genetics, 51, 239-244, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Yıldırım, Y., Kerem, M., Köroğlu, C., Tolun, A., 'A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family', European Journal of Human Genetics, 22, 3, 333-337, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Novarino, G.; Fenstermaker, A.G.; Zaki, M.S.; Tolun, A.; et al.,'Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders',Science, 343, 6170, 506-511, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Aydin, Begum,'High-fat-diet-mediated dysbiosis promotes intestinal carcinogenesis independently of obesity',Nature Volume: 514 Issue: 7523 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R, Motor protein mutations cause a new form of hereditary spastic paraplegia., Neurology, 82, 22, 2007-2016, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Akyüz, K., Battaloğlu, E., 'Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D',Genetics In Medicine, 16, 5, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Özeş, B., Gonzalez, M., Durmuş, H., Deymeer, F Oflazoğlu, P., Zuchner, S., Parman, Y., Battaloğlu, E., 'Whole exome sequencing analysis in recessive hereditary spastic paraplegia patients from Turkey', Journal of Neurology,  Meeting Abstract: EP2162, 261, S145-S145, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Özeş, B., Gonzalez, M., Durmuş, H., Deymeer, F., Oflazoğlu, P., Zuchner, S., Parman, Y., Battaloğlu, E., 'Whole exome sequencing analysis in recessive hereditary spastic paraplegia patients from Turkey', European Journal of Neurology,  Meeting Abstract: EP2162, 21, 209-209, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Sıvacı, M., Parman, Y., Gonzaga-Jauregui, C., Pehlivan, D., Durmuş, H., Deymeer, F., Oflazoglu, P., Lupski, J.R., Battaloğlu, E.,'Exome sequencing vs. phenotype directed gene screening in CMT patients from Turkey', European Journal of Neurology,  Meeting Abstract: EP2163, 21, 209-209, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2014
Sıvacı, M., Parman, Y., Gonzaga-Jeuregui, C., Pehlivan, D., Durmuş, H., Deymeer, F., Oflazoğlu, P., Lupski, J.R., Battaloğlu, E., ' Exome sequencing vs phenotype directed gene screening in CMT patients from Turkey', Journal of Neurology,  Meeting Abstract: EP2163, 261, S146-S146, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2014
Yamamoto, S., Jaiswal, M., Charng, W., Sıvacı, M., Battaloğlu, E. et al., 'A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases', Cell, 159, 1, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Weckhuysen S, Suls A, Djemie T, Sterbova K, Arslan M, Caglayan H, Striano P, Marini C, Lemke J, Depiene C,Helbig I, De Jonghe P, “Trio exome sequencing in 31 patients with SCN1A negative Dravet Syndrome”, The16th Annual Meeting of the Infantile Seizure Society (ISES 2014), 2014, Kapodokya, Joınt Meeting of the infantile seizure society and the Turkish Child Neurology Association, 1, 24, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri 2014
Özcan, Z., Gül, G. and Yaman, I. , Ochratoxin A Activates Opposing c-MET /PI3K/Akt and MAPK/Erk 1-2 Pathways in Human Proximal Tubule HK-2 Cells., Archives of Toxicology, ahead of print, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Gökcümen, Ö., Alkan, C., Kavak, P., Somel, M., Uğurlu, S., Dal, E., Bugra-Bilge, K., Güngör, T., Şahinalp, C., Özören, N., Bekpen, C., 'Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa', American Journal of Physical Anthropology, 153, 126-127, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2014
Alkan, C., Kavak, P., Somel, M., Gökcümen, Ö., Uğurlu, S., Saygı, C., Dal, E., Buğra, K., Güngör, T., Şahinalp, S.C., Özören, N., Bekpen, C., 'Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe', Asia and Africa, BMC Genomics, 15, 963, 1-12, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SSCI, SCI-E 2014
Usluer S, Şen Y, Türkdoğan D, Yiş U, Arslan M, Meral C, Tektürk P, Çağlayan H, “Massive Parallel Sequencing of SCN1A gene by amplicon sequencing method”, Annual Meeting of the Infantile Seizure Society, 2014, Kapadokya, Joint Meeting of the infantile seizure society and the Turkish Child Neurology Association , 1, 24, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri 2014
Hız MC, Canher B, Niron H, Türet M, Transcriptome Analysis of Salt Tolerant Common Bean (Phaseolus vulgaris L.) under Saline Conditions , PLOS ONE, 9, 3, 1-13, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Balta, H., Karakaş Metin, Ö., Şentürk Akfırat, F., Türet, M., et al. Identification of an AFLP marker linked with yellow rust resistance in wheat (Triticum aestivum L.), Turkish Journal of Biology, 38, 371-379, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Zaleska, A., Eiwegger, T., Soyer, O., van de Veen, W., Rhyner, C., Soyka, M.B., Bekpen, C., Demiröz, D., Treis, A., Söllner, S., Palomares, O., Kwok, W.W., Rose, H., Senti, G., Kündig, T.M,, Özören, N., Jutel, M., Akdiş, C.A., Crameri, R., Akdiş, M., 'Immune regulation by intralymphatic immunotherapy with modular allergen translocation MAT vaccine'., Allergy, 69, 9, 1162-70, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Sahillioğlu, A.C.; Sümbül, F.; Özören, N.; Haliloğlu, T.; et al.,'Structural and Dynamics Aspects of ASC Speck Assembly',Structure, 21818722-1734, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Fidancı İD, Zülfikar B, Kavaklı K, Ar MC, Kılınç Y, Başlar Z, Çağlayan SH, A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients, Turkish Journal of Hematology, 31, 17-24, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Altındağ, E., Gündoğdu, A., Usluer, S., Çağlayan, H., Baykan, B., 'Down syndrome and late onset myoclonic epilepsy in Down syndrome: investigation of EPM1 gene mutations in two casesP.M., Başak, A.N., 'C9orf72 hexanucleotide repeat expansion in Turkish ALS patients', European Journal of Neurology,  Meeting Abstract: PP2050, 21, 496-496, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Altındağ, E., Gündoğdu, A., Usluer, S., Çağlayan, H., Baykara, B., 'Down syndrome and late onset myoclonic epilepsy in Down syndrome: investigation of EPM1 gene mutations in two cases', Journal of Neurology,  Meeting Abstract: PP2050, 261, S328-S328, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Suls, A., Jaehn, J.J., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D.C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., Iliescu, C.M., Talvik, T., Talvik, I., Meral, C., Çağlayan, S.H. et al. 'De Novo Loss-of-Function Mutations in CHD2 Cause A Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features With Dravet Syndrome', Epilepsia, 55, 2, 79-80, Meeting Abstract: p239, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2014
Weckhuysen, S., Suls, A., Djemie, T., Sterbova, K., Hoffman-Zacharska, D., Talvik, T., Çağlayan, H. et al. 'Trio Exome Sequencing in 31 Patients with SCN1A Negative Dravet Syndrome Leads to the Detection of Another Recessive SCN1B Mutation and the Discovery of at Least Two Novel Epilepsy Genes', Epilepsia, 55, 2, 81-81 Meeting Abstract: p239, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2014
Fuss, S.H., Bayramlı, X., 'Birth and migration of zebrafish olfactory sensory neurons', Chemical Senses, 39, 1, 96-96, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Fuss, S.H., Kaya, A.B., 'Mining the zebrafish olfactory transcriptome', Chemical Senses, 39, 1, 96-96, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Fuss, S.H., Zhu, Y., Mombaerts, P., 'Odorant receptor gene choice at the SR1 receptor gene locus', Chemical Senses, 39, 1, 79-80, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Topaloğlu, N., Yüksel, Ş., Gülsoy, M., 'Effect of near-infrared diode laser and indocyanine green to treat infections on different wound models', Biophotonics: Photonic Solutions for Better Health Care IV  Book Series: Proceedings of SPIE,  Popp J. Tuchin V.V. Matthews D.L. Pavone F.S. (Derleyenler), 9129,  Article Number: 912925, 2014.   Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri CPCI-S 2014
Yüksel, Ş.; Eren, E.; Hatemi, G.; Sahillioğlu, A.C.; Gültekin, Y.; Demiroz, D. Akdiş, C.; Fresko, İ.; Özören, N.,'Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behets syndrome patients',International Immunology, 26, 2, 71-81, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Sahillioğlu, A.C., Sümbül, F., Özören, N., Haliloğlu, T., Structural and dynamics aspects of ASC speck assembly', Structure, 22, 12, 1722-1734, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
​​​Şahin, U., Jollivet, F., Berthier, C., de The, H., Lallemand-Breitenbach, V.​​​​​, 'Detection of Protein SUMOylation In Situ by Proximity Ligation Assays'​​​​​, Rodriguez​​​​​, M.S., SUMO Methods and Protocols​​​​​, Springer Humana Press​​​​​, 2016​​.​ Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Kitap Bölümü 2016
​Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G.L., Jaehn, J., Anttonen, A.K., Brilstra, E., Çağlayan, H.S., et al., 'Pitfalls in Genetic Testing: The Story of Missed SCN1A Mutations', Molecular Genetics and Genomic Medicine, 4, 4, 457-464, 2016. ​​ ​ ​ ​​​ Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale 2016
​Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu , X., Zheng, Y., Schulman, B.A., Xu, J., Semple, I., Ro, S.H., Kim, B, Mavioğlu, R.N., Tolun, A., et al., 'Mutation in ATG5 Reduces Autophagy and Leads to Ataxia with Developmental Delay', ELife​, e12245​, 10​, 1-18​, 2016. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale 2016
Akcay, H.I., Durmuş, H., Deymeer, F., Oflazer-Serdaroğlu, P., Sıvacı, M., Candayan, A., Battaloğlu, E., Parman, Y., 'Charcot-Marie-Tooth Disease in Turkey: Clinical and Genetic Findings from a Single-centre Experience', Journal of the Peripheral Nervous System, 21, 3, 230-231, 2016. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Altındağ, E., Usluer, S., Gündoğdu, A., Tuncer, Ö.G., Vanlı-Yavuz, E.N., Çağlayan, H., Baykan, B., 'Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases', Journal of Neurological Sciences-Turkish, 33, 1, 132-137, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Alvina, K., Tara, E., Khodakhah, K., 'Developmental Change in the Contribution of Voltage-Gated Ca2+ Channels to the Pacemaking of Deep Cerebellar Nuclei Neurons', Neuroscience, 322, 171-177, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Balestrini, S., Milh, M., Castiglioni, C., Tolun, A., 'TBC1D24 Genotype-phenotype Correlation: Epilepsies and Other Neurologic Features', Neurology, 87, 1, 77-85, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Battaloğlu, E., Estrada-Cuzcano, A., Atkinson, D., Candayan, A., De Vriendt, E., Parman, Y., Jordanova, A., 'SPG11 is an Overlapping Gene Between Charcot-Marie-Tooth Disease and Hereditary Spastic Paraplegia', Journal of the Peripheral Nervous System, 21, 3, 238-239, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Burmeister, M., Lee, J., Schulman, B.A., Yapıcı, Z., Tolun, A., Juhasz, G., Li, J.Z., Klionsky, D.J., 'A Role of Autophagy in Spinocerebellar ataxiaRare Exception or General Principle?', Autophagy, 12, 7, 1208-1209, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Editoryal Yazı SCI-E 2016
Candayan, A., Sıvacı, M., Parman, Y., Battaloğlu, E., 'Mitofusin 2 Gene Mutations in a Turkish Charcot-Marie-Tooth Disease Cohort', Journal of the Peripheral Nervous System, 21, 3, 242-242, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Çağavi, E., Özören, N., 'Editorial 'Stem Cells: Biology, Genetics, and Epigenetics'', Turkish Journal of Biology, 40, 5, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Editoryal Yazı SCI-E 2016
Çevrim, Ç., Mika, K., Callaerts, P., Çelik, A., 'Unzipped Mediates Drosophila Mushroom Body Development through Neuron-glia Interactions.', Chemical Senses, 41, 4, 403-404, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Durmuş, H., Ayhan, Ö., Çırak, S., Tolun, A., et.al., 'Neuromuscular Endplate Pathology in Recessive Desminopathies: Lessons from Man and Mice', Neurology, 87, 8, 799-805, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Erol, A.M., Kılıç, A.K., Çelik, A., Çelik, C., Başak, A.N, 'Brait-Fahn-Schwarz disease: Parkinson's Disease and Amyotrophic Lateral Sclerosis Complex', ACTA Neurologica Belgica, 116, 3, 401-403, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Mektup SCI-E 2016
Genç, G., Apaydın, H., Gündüz, A., Poyraz, Ç., Oğuz, S., Yağcı, S., Canaz, H., Aydın, S., Gündoğdu-Eken, A., Başak, A.N., Ertan, S., 'Successful Treatment of Juvenile Parkinsonism with Bilateral Subthalamic Deep Brain Stimulation in a 14-year-old Patient with Parkin Gene Mutation', Parkinsonism & Related Disorders, 24, 137-138, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Mektup SCI-E 2016
Hanagasi, H.A., Giri, A., Kartal, E., Güven, G., Bilgiç, B., Hauser, A., Emre, M., Heutink, P., Başak, A.N,. Gasser, T., Simon-Sanchez, J., Lohmann, E., 'A Novel Homozygous DJ1 Mutation Causes Parkinsonism and ALS in a Turkish Family', Parkinsonism & Related Disorders, 29, 117-120, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Jiang, Z., Luo, H., Huang, S., Farrell, J.J., Davis, L., Theberge, R., Benson, K.A., Riolueang, S., Viprakasit, V., Al-Allawi, N.A.S., Ünal, Ş., Gümrük, F., Akar, N., Başak, A.N., Osorio, L., Badens, C., Pissard, S., Joly, P., Campbell, A.D., Gallagher, P.G., Steinberg, M.H., Forget, B.G., Chui, D.H.K., 'The Genetic Basis of Asymptomatic Codon 8 Frame-shift (HBB:c25_26delAA) beta(0)-thalassaemia Homozygotes', British Journal of Haematology, 172, 6, 958-965, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Johannesen, K., Marini, C., Pfeffer, S., Çağlayan, H., 'Phenotypic Spectrum of GABRA1: From Generalized Epilepsies to Severe Epileptic Encephalopathies', Neurology, 87, 11, 1140 -1151, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Kancheva, D., Atkinson, D., De Rijk, P., Zimon, M., Chamova, T., Mitev, V., Yaramış, A., Fabrizi, G.M., Topaloğlu, H., Tournev, I., Parma, Y., Battaloğlu, E., Estrada-Cuzcano, A., Jordanova, A., 'Novel Mutations in Genes Causing Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Neuropathy Identified by an Optimized Protocol for Homozygosity Mapping based on Whole-exome Sequencing', Genetics in Medicine, 18, 6, 600-607, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Kim, M., Sandford, E., Gatica, D., Qiu, Y., Mavioğlu, R.N., Tolun, A., et.al., 'Mutation in ATG5 Reduces Autophagy and Leads to Ataxia with Developmental Delay', eLIFE, 5, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Kotan, D., İskender, C., Özoğuz Erimiş, A., Başak, A.N., 'A Turkish Family with a Familial ALS-positive UBQLN2-S3401 Mutation', Archives of Neuropsychiatry, 53, 3, 283-285, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Mektup SCI-E 2016
Kurt, S., Çevik, B., Aksoy, D., Sahbaz, E.I, Eken, A.G, Başak, A.N., 'Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia', Case Reports in Neurological Medicine, 2016. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale ESCI 2016
Mignot, C., von Stuelpnagel, C., Nava, C., Çaglayan, H., 'Genetic and Neurodevelopmental Spectrum of SYNGAP1-associated Intellectual Disability and Epilepsy', Journal of Medical Genetics, 53, 8, 511-522, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Mizzi, C., Dalabira, E., Kumuthini, J., Başak, A.N., 'A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics', Plos One, 11, 9, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Sobhiafshar, U., Yılmaz, E., Emre, N.C.T., 'Identification and Analysis of Interferon Regulatory Factor 4 Target Genes in Melanoma via High-throughput Sequencing of Immunoprecipitated Chromatin', FEBS Journal, 283, 258, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Şen, N.E., Drost, J., Gispert, S., Başak, A.N., et.al., 'Search for SCA2 Blood RNA Biomarkers Highlights Ataxin-2 as Strong Modifier of the Mitochondrial Factor PINK1 Levels', Neurobiology of Disease, 96, 115-126, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Usluer, S., Salar, S., Arslan, Mu., Yis, U., Kara, B., Tektürk, P., Baykan, B., Meral, C., Türkdoğan, D., Bebek, N., Çapan, Ö.Y., Eken, A.G., Çağlayan, S.H., 'SCN1A Gene Sequencing in 46 Turkish Epilepsy Patients Disclosed 12 Novel Mutations', Seizure-European Journal of Epilepsy, 3, 34-43, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Makale SCI-E 2016
Yasa, S., Sahillioğlu, A.C., Özören, N., 'The ASC Speck as Novel Antigen Carrier', FEBS Journal, 283, 112-112, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Yıldız, N., Ayhan, M.C., Emre, N.C.T., 'Investigating the Role of Interferon Regulatory Factor 4 in Melanoma Cell Lines', FEBS Journal, 283, 255, 2016. Moleküler Biyoloji ve Genetik Fen Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2016
Akçakaya, N.H., Çapan, Ö. Y., Schulz, H., Çağlayan, S. H., et.al., "De Novo 8p23.1 Deletion in a Patient with Absence Epilepsy", Epileptic Disorders, 19, 2, 217-221, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Akçakaya, N.H., İşeri, S.U., Bilir, B., Battaloğlu, E., et.al., "Clinical and Genetic Features of PKAN Patients in a Tertiary Centre in Turkey", Clinical Neurology and Neurosurgery, 154, 34-42, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Allen, A. S., Berkovic, S. F., Bridgers, J., Çaglayan, H., "Application of Rare Variant Transmission Disequilibrium Tests to Epileptic Encephalopathy Trio Sequence Data", European Journal of Human Genetics, 25, 7, 894-899, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Auburger, G., Şen, N.E., Meierhofer, D., Başak, A.N., Gitler, A.D., "Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2", Trends in Neurosciences, 40, 8, 507-516, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi İnceleme SCIE 2017
Bayramlı, X., Kocagöz, Y., Sakızlı, U., Fuss, S.H., "Patterned Arrangements of Olfactory Receptor Gene Expression in Zebrafish are Established by Radial Movement of Specified Olfactory Sensory Neurons", Scientific Reports, 7, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Berber, E., Özbil, M., Brown, C., Başlar, Z., Çaglayan, S. H., Lillicrap, D., "Functional Characterisation of the Type 1 von Willebrand Disease Candidate VWF Gene Variants: p. M771I, p. L881R and p. P1413L", Blood Transfusion, 15, 6, 548-556, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Bölükbaşı, E. Y., Afzal, M., Mümtaz, S., Ahmad, N., Malik, S., Tolun, A., "Progressive SCAR14 with Unclear Speech, Developmental Delay, Tremor, and Behavioral Problems Caused by a Homozygous Deletion of the SPTBN2 Pleckstrin Homology Domain", American Journal of Medical Genetics Part A, 173, 9, 2494-2499, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Candayan, A., Atkinson, D., Tekçe, D. H., Parman, Y., Jordanova, A., Battaloğlu, E., "Mutation Spectrum in a Turkish Charcot-Marie-Tooth Disease Cohort", Journal of The Peripheral Nervous System, 22, 3, 255-255, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Conkbayır, C., Yamacı, R.F., Gençer, P., Barın, B., Yücel, G., Yıldız, C.E., Uğurlucan, M., Başak, A. N., "Impact of Genetic Defects on Coronary Atherosclerosis among Turkish Cypriots", Heart Surgery Forum, 20, 5, E223-E229, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Dandekar, T., Naseem, M., "Auxins and Cytokinins in Plant Biology Methods and Protocols Preface", Auxins and Cytokinins In Plant Biology: Methods and Protocols, 1569, V-V, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Editoryal Yazı BKCI-S 2017
de Kovel, C.G.F., Syrbe, S., Brilstra, E.H., Cağlayan, H., et.al., "Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes", Jama Neurology, 74, 10, 1228-1236, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Eren, E., Berber, M., Özören, N., "NLRC3 Protein Inhibits Inflammation by Disrupting NALP3 Inflammasome Assembly via Competition with the Adaptor Protein ASC for pro-caspase-1 Binding", Journal of Biological Chemistry, 292, 30, 12691-12701, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Fuss, S. H., Bayramlı, X., Sakızlı, U., Kocagöz, Y., "Patterns of Olfactory Receptor Gene Expression in the Zebrafish Olfactory Epithelium Arise from Migration of Specified Olfactory Sensory Neurons", Chemical Senses, 42, 2, E32-E32, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Garipcan, A., Özçimen, B., Önder, T., Özören, N., "NLRP7's Key Role in Primate Trophoblast Differentiation.", Molecular Biology of The Cell, 28, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Hamzeiy, H., Suluyayla, R., Brinkrolf, C., Janowski, S. J., Hofestaedt, R., Allmer, J., "Visualization and Analysis of MicroRNAs within KEGG Pathways using VANESA", Journal of Integrative Bioinformatics, 14, 1, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale ESCI 2017
Kaltdorf, M., Dandekar, T., Naseem, M., "Reconstruction of an Immune Dynamic Model to Simulate the Contrasting Role of Auxin and Cytokinin in Plant Immunity", Auxins and Cytokinins in Plant Biology: Methods and Protocols, 1569, 83-92, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale; Kitap Bölümü BKCI-S 2017
Kara, B., Köroğlu, Ç., Peltonen, K., Steinberg, R. C., Genç, H. M., Holtta-Vuori, M., Güven, A., Tolun, A.,et.al., "Severe Neurodegenerative Disease in Brothers with Homozygous Mutation in POLR1A", European Journal Of Human Genetics, 25, 3, 315-323, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Karacan, İ., Esatoğlu, S. N., Turanlı, E. T., Tolun, A., Seyahi, E., "Whole Genome Linkage and Exome Sequencing Analyses in an Autosomal Recessive Takayasu Arteritis Family", Annals of The Rheumatic Diseases, 76, 208-208, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Karacan, İ., Uğurlu, S., Tolun, A., Turanlı, E.T., Özdoğan, H., "Other Autoinflammatory Disease Genes in an FMF-Prevalent Population: A Homozygous MVK Mutation and a Heterozygous TNFRSF1A Mutation in Two Different Turkish Families with Clinical FMF", Clinical and Experimental Rheumatology, 35, 6, S75-S81, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Kocagöz, Y., Bayramlı, X., Çapar, S., Bali, B., Fuss, S. H., "Distinct Stem / Progenitor Cell Populations Contribute to Two Different Modes of Neurogenesis in the Adult Zebrafish Olfactory Epithelium", Chemical Senses, 42, 2, E37-E37, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Köroğlu, Çiğdem, Yılmaz, R., Sorgun, M. H., Solakoğlu, S., Şener, Ö., "GNE Missense Mutation in Recessive Familial Amyotrophic Lateral Sclerosis", Neurogenetics, 18, 4, 237-243, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Kunz, M., Dandekar, T., Naseem, M., "A Systems Biology Methodology Combining Transcriptome and Interactome Datasets to Assess the Implications of Cytokinin Signaling for Plant Immune Networks", Auxins And Cytokinins In Plant Biology: Methods And Protocols, 1569, 165-173, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale; Kitap Bölümü BKCI-S 2017
Lahut, S., Gispert, S., Ömür, Ö., Depboylu, C., Pirkevi, C., Başak, A. N., et.al., "Blood RNA Biomarkers in Prodromal PARK4 and Rapid Eye Movement Sleep Behavior Disorder Show Role of Complexin 1 Loss for Risk of Parkinson's disease", Disease Models & Mechanisms, 10, 5, 619-631, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Masnada, S., Hedrich, U.B.S., Gardella, E., Çağlayan, H.S., et.al., "Clinical Spectrum and Genotype-Phenotype Associations of KCNA2-related Encephalopathies", Brain, 140, 2337-2354, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Mitropoulos, K., Papadima, E.M., Xiromerisiou, G., Akçimen, F., Başak, N., "Genomic Variants in the FTO Gene Are Associated with Sporadic Amyotrophic Lateral Sclerosis in Greek Patients", Human Genomics, 11, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Moller, R.S., de Kovel, C. G. F., Syrbe, S., Çağlayan, H., "Kcnb1 Mutations Are Causing a Neurodevelopmental Disorder Including Epilepsy And Autism", Epilepsia, 58, S31, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, SSCI, CPCI-S 2017
Mümtaz, S., Yıldız, E., Lal, K., Tolun, A., Malik, S., "Complex Postaxial Polydactyly Types A And B With Camptodactyly, Hypoplastic Third Toe, Zygodactyly And Other Digit Anomalies Caused by a Novel GLI3 Mutation", European Journal of Medical Genetics, 60, 5, 268-274, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Naseem, M., Kunz, M., Dandekar, T., "Plant-Pathogen Maneuvering over Apoplastic Sugars", Trends In Plant Science, 22, 9, 740-743, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Editoryal Yazı SCIE 2017
Naseem, M., Shams, S., Roitsch, T., "Modulating the Levels of Plant Hormone Cytokinins at the Host-Pathogen Interface", Auxins and Cytokinins In Plant Biology: Methods and Protocols, 1569, 141-150, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale; Kitap Bölümü BKCI-S 2017
Özes, B., Karagöz, N., Schuele, R., Battaloğlu, E., et.al., "PLA2G6 Mutations Associated with a Continuous Clinical Spectrum from Neuroaxonal Dystrophy to Hereditary Spastic Paraplegia", Clinical Genetics, 92, 5, 534-539, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017
Parman, Y., Durmuş, H., Deymeer, F., Oflazer-Serdaroğlu, P., Battaloğlu, E., "Clinical and Genetic Heterogeneity in Charcot-Marie-Tooth Neuropathy Type 2 Patients From Turkey", Journal of the Peripheral Nervous System, 22, 3, 355-355, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCIE, CPCI-S 2017
Ralff, M.D., Kline, C.L.B., Küçükkase, O.C., et.al., "ONC201 Demonstrates Antitumor Effects in Both Triple-Negative and Non-Triple-Negative Breast Cancers through TRAIL-Dependent and TRAIL-Independent Mechanisms", Molecular Cancer Therapeutics, 16, 7, 1290-1298, 2017. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCIE 2017

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