Yayınlar

Yayın Adı Bölümazalan sırada Birim Yayın Türü İndeksi Tarihi
Gülsüner, S., Tekinay, A.B., Doerschner, K., Boyacı, H., Bilguvar, K., Ünal, H., Örs, A., Onat, O.E., Atalar, E., Başak, A.N., Topaloğlu, H., Kansu, T., Tan, M., Tan, U., Günel, M., Özçelik, T., “Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred”, Genome Research, 21, 12, 1995-2003, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Yalçın, O., Baykan, B., Agan, K., Yapıcı, Z., Yalçın, D., Dizdarer, G., Türkdoğan, D., Özkara, C., Ünalp, A., Uluduz, D., Gül, G., Kuşcu, D., Ayta, S., Tutkavul, K., Comu, S., Tatlı, B., Meral, C., Bebek, N., Cağlayan, S.H., “An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures”, Epilepsia, 52, 5, 975-983, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Galy, A., Schenck, A., Sahin, H.B., Qurashi, A., Sahel, J.A., Diebold, C., Giangrande, A., “CYFIP dependent actin remodeling controls specific aspects of drosophila eye morphogenesis”, Developmental Biology, 359, 1, 37-46, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Parman, Y., Kocasoy-Orhan, E., Matur, Z., Oflazer-Serdaroğlu, P., Battaloğlu, E., Poyraz, M., Deymeer, F., “Conduction blocks in charcot-marie-tooth 1a”, Journal of Neurology, 258, 110-110, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2011
Parman, Y., Matur, Z., Shugaiv, E., Ilgaz-Aydınlar, E., Battaloglu, E., Oflazer, P., Deymeer, F., “Clinico-pathological and genetic study of familial transthyretin-type amyloid polyneuropathy”, Journal of the Peripheral Nervous System, 16, S105-S105, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E 2011
Tüysüz, B., Tolun, A., Yıldırım, Y., “Response to kouwenberg Et Al. recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in ARCL2B due to PYCR1 mutations”, American Journal of Medical Genetics Part A, 155A, 9, 2333-2334, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Mektup SCI-E 2011
Deymeer, F., Matur, Z., Poyraz, M., Battaloğlu, E., et al., ”Nerve conduction studies in charcot-marie-tooth disease in a cohort Ffrom Turkey”, Muscle & Nerve, 43, 5, 657-664, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Taylan, F., Altıok, E., ”Patterns of meiotic recombination at major histocompatibility complex in human embryos”, Tissue Antigens, 77, 5, 483-484, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2011
Giardine, B., Borg, J., Higgs, D. R., Başak, A.N., et al., ”Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach”, Nature Genetics, 43, 4, 95-302, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Yıldırım, Y., Tolun, A., Tuysuz, B., ”The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2, American Journal of Medical Genetics Part A, 155A, 1, 134-140, 2011 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2011
Parman, Y., Battaloğlu, E., “Recessively transmitted predominantly motor neuropathies”, Peripheral Nerve Disorders, Book Series: Handbook of Clinical Neurology, Said G, Krarup C (Derleyenler), 115, 847-861, Elsevier, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Kitap Bölümü BKCI-S 2013
Şahin, H. B., Çelik, A., “Drosophila Eye Development and Photoreceptor Specification”, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Kitap Bölümü NULL 2013
Agim, Z.S., Esendal, M., Briollais, L., Uyan, Ö., Meschian, M., Martinez, L.A.M., Ding, Y.M., Başak, A.N., Özcçlik, H., “Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia”, PLoS One, 8, 1, Article Number: e53042, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Arslan, M., Yis, U., Çağlayan, H., Akın, R., “A novel mutation in the sodium channel alpha 1 subunit gene in a child with Dravet syndrome in Turkey”, Neural Regeneration Research, 8, 10, 955-958, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Bakış, Y., Otu, H. H., Taşçı, N., Meydan, C., Bilgin, N., Yüzbaşıoğlu, S., Sezerman, O. U., “Testing robustness of relative complexity measure method constructing robust phylogenetic trees for Galanthus L. Using the relative complexity measure”, BMC Bioinformatics, 14, Article Number: 20, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Berber, E., Pehlevan, F., Akın, M., Çapan, Ö.Y., Kavaklı, K., Çağlayan, S.H., “A Common VWF Exon 28 Haplotype in the Turkish Population”, Clinical and Applied Thrombosis-Hemostasis, 19, 5, 550-556, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Fuss, S.H., Zhu, Y., Mombaerts, P., “Odorant receptor gene choice and axonal wiring in mice with deletion mutations in the odorant receptor gene SR1”, Molecular and Cellular Neuroscience”, 56, 212-224, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Gökçe, M., Gümrük, F., Haliloğlu, G., Serdaroğlu, E., Çağlayan, H., “Double trouble: Duchenne muscular dystrophy and hemophilia”, Pediatric Blood & Cancer, 60, 3, 525-525, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Güven, A., Tolun, A., “TBC1D24 truncating mutation resulting in severe neurodegeneration”, Journal of Medical Genetics, 50, 3, 199-202, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Köroğlu, Ç., Baysal, L., Çetinkaya, M., Karasoy, H., Tolun, A., “DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability”, Parkinsonism & Related Disorders, 19, 3, 320-324, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Köroğlu, Ç., Seven, M., Tolun, A., “Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism”, Journal of Medical Genetics, 50, 8, 515-520, 2013 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Küser-Abalı, G., Özcan, F., Uğurlu, A., Uysal, A., Fuss, S.H., Buğra-Bilge, K., “SIK2 is involved in the negative modulation of insulin-dependent müller cell survival and implicated in hyperglycemia-induced cell death”, Investigative Ophthalmology & Visual Science, 54, 5, 3526-3537, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Lamy, L., Ngo, V. N., Emre, N. C.T., Shaffer, A. L. III, Yang, Y., Tian, E., Nair, V., Kruhlak, M. J., Zingone, A., Landgren, O., Staudt, L. M., “Control of autophagic cell death by caspase-10 in multiple myeloma.”, Cancer Cell, 23, 4, 435-449, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale NULL 2013
Li, X., Erclik, T., Bertet, C., Chen, Z., Voutev, R., Venkatesh, S., Morante, J., Celik, A., Desplan, C., “Temporal patterning of Drosophila medulla neuroblasts controls neural fates.”, Nature, 498, 7455, 456-462, 2013 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Mishra, A.K., Tsachaki, M., Rister, J., Ng, J., Celik, A., Sprecher, S.G., “Binary cell fate decisions and fate transformation in the Drosophila larval eye”, PLoS Genetics, 9, 12, Article Number: e10040, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Onat, O.E., Gülsüner, S., Bilguvar, K., Başak, A.N., Topaloğlu, H., Tan, M., Tan, Ü., Günel, M., Özçelik, T., “Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion”, European Journal of Human Genetics 21, 3, 281-285, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Ozansoy, M., Başak, A.N., “The central theme of Parkinson’s disease: -synuclein”, Molecular Neurobiology , 47, 2, 460-465, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Praetorius, C., Grill, C., Stacey, S.N., Emre, N.C.T. et al., “A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway”, Cell, 155, 1022-1033, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Scholey, J.M., “Cilium Assembly: Delivery of Tubulin by Kinesin-2-Powered Trains”, Current Biology, 23, 21, R956-R959, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Suls, A., Jaehn, J.A., Kecskes, A., Çağlayan, S.A. et al, “De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome”, American Journal of Human Genetics, 93, 5, 967-975, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Taşcı Marangoz, N., Yüzbaşıoğlu, İ,S, Çelen, Z., Ekim, T., Bilgin, A.N., “Molecular phylogeny of Galanthus (Amaryllidaceae) of Anatolia inferred from multiple nuclear and chloroplast DNA regions”, Turkish Journal of Botany, 37, 6, 993-1007, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Topaloğlu, N., Gülsoy, M., Yüksel, Ş., “Antimicrobial photodynamic therapy of resistant bacterial strains by indocyanine green and 809-nm diode laser”, Photomedicine and Laser Surgery, 31, 4, 155-162, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Uyan, Ö., Ömür, Ö., Ağım, Z.S., Özoğuz, A., Li, H., Parman, Y., Deymeer, F., Oflazer, P., Koç, F., Tan, E., Özçelik, H., Başak, A.N., “Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor”, PLoS One, 8, 8, Article Number: e72381, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI 2013
Yalçınkaya, M., Yüksel, Ş., “Investigation of LL-37 mediated transfection”, Turkish Journal of Biology, 37, 4, 426-432, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2013
Aysan, N., Topaloğlu, N., Yüksel, Ş., Gülsoy, M., “Biostimulative effect of 809-nm diode laser and indocyanine green on p.aeruginosa instead of photodynamic therapy”, Mechanisms for Low-Light Therapy VIII, Hamblin M.R., Arany P.R., Carroll J.D. (Derleyenler), Book Series: Proceedings of SPIE, 8569, San Francisco, CA, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri CPCI-S 2013
Topaloğlu, N., Yüksel, Ş., Gülsoy, M., “Influence of different output powers on the efficacy of photodynamic therapy with 809-nm diode laser and indocyanine green”, Optical Interactions with Tissue and Cells XXIV, Jansen E.D., Thomas R.J. (Derleyenler), Book Series: Proceedings of SPIE, 8579, San Francisco, CA, 2013.   Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri CPCI-S  2013
Durmuş, H., Özoğuz, A., Deymeer, F., Serdaroğlu, P., Aysal, F., Ertaş, M., Günel, M., Başak, N., Parman, Y., “Clinical and Genetic Characteristics of Five Turkish Families with UBQLN2 Mutations”, Neurology, 80, Meeting Abstract: P05078, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2013
Idiman, E., Idiman, F., Özakbaş, S., Sagut, O., Gürkan, A., Battaloğlu, E., “A Charcot-Marie-Tooth disease (CMTD) case with brain white matter lesions and connexin 32 mutation showing different cerebrospinal fluid and magnetic resonance imaging features”, Multiple Sclerosis Journal, 19, 11, 145-145 Supplement: S, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2013
Sert, Y.Y., Buğra-Bilge, K., “SIK2 involvement in downregulation of FGF signaling through Gab1 and Raf1”, FEBS JournaL, 280, 445-445, Supplement: 1, 2013. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2013
Berber, E., Pehlevan, F., Akın, M., Yalçın-Çapan, Ö., Kavaklı, K., Çağlayan, S.H., “A common VWF exon 28 haplotype in the Turkish population”, Clinical and Applied Thrombosis/Hemostasis, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale NULL 2012
Çağlayan, M., Bilgin, N., “Temperature dependence of accuracy of DNA polymerase I from Geobacillus anatolicus”, Biochimie, 94, 9, 1968-1973, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Çobanoğlu, G., Ozansoy, M., Başak, A.N., “Are alsin and spartin novel interaction partners?”, Biochemical and Biophysical Research Communications, 427, 1, 1-4, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Gökdemir, S., Çağlayan, H., Kızıltan, M., Karaağaç, N., Leblebici, C., Yeni, S.N., “Presentation of an unusual patient with Lafora disease”, Epileptic Disorders, 14, 1, 94-98, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Güven, A., Gündüz, A., Bozoğlu, T.M., Yalçınkaya, C., Tolun, A., “Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly”, Neurogenetics, 13, 3, 189-194, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Lahut, S., Omur, O., Uyan, O., Ağım, Z.S., Özoğuz, A., Parman, Y., Deymeer, F., Oflazer, P., Koç, F., Özcelik, H., Auburger, G., Başak, A.N., “ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population”, Plos One, 7, 8, Article Number: e42956, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Leu, C., de Kovel, C.G.F., Zara, F., Çağlayan, H., et al., “Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies”, Epilepsia, 53, 2, 308-318, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Lohmann, E., Köroğlu, C., Hanağası, H.A., Dursun, B., Taşan, E., Tolun, A., “A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood”, Parkinsonism & Related Disorders, 18, 2, 191-193, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Najafov, A., Şeker, T., Even, I., Hoxhaj, G., Selvi, O., Özel, D.E., Koman, A., Birgül-İyison, N., “MENA is a transcriptional target of the Wnt/beta-catenin pathway”, Plos One, 7, 5, Article Number: e37013, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Salar, S., Yeni, N., Gündüz, A., Güler, A., Gökçay, A., Velioğlu, S., Gündoğdu, A., Çağlayan, S.H., “Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families”, Epilepsy Research, 98, 2-3, 273-276, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Steffens, M., Leu, C., Ruppert, A.K., Çağlayan, H. et al., “Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32”, Human Molecular Genetics, 21, 24, 5359-5372, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Synofzik, M., Ronchi, D., Keskin, I., Başak, A.N., Wilhelm, C., Gobbi, C., Birve, A., Biskup, S., Zecca, C., Fernandez-Santiago, R., Kaugesaar, T., Schols, L., Marklund, S.L., Andersen, P.M., “Mutant superoxide dismutase-1 indistinguishable from wild-type causes” ALS Human Molecular Genetics, 21, 16, 3568-3574, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Taylan, F., Altıok, E., “Meiotic recombinations within major histocompatibility complex of human embryos”, Immunogenetics, 64, 11, 839-844, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Zimon, M., Baets, J., Almeida-Souza, L., Battaloğlu, E. et al., “Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia”, Nature Genetics, 44, 10, 1080-1083, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2012
Topaloğlu, N., Yüksel, Ş., Gülsoy, M., “Optimization of parameters in photodynamic therapy to kill p. aeruginosa with 809-nm diode laser and indocyanine green”, Optical Methods for Tumor Treatment and Detection: Mechanisms and Techniques in Photodynamic Therapy XXI, Editör(ler): Kessel D.H.; Hasan T., Book Series: Proceedings of SPIE, 8210, Article Number: 821012, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri CPCI-S 2012
Bayramlı, X. Fuss, S.H., “Born to run: Patterning the drosophila olfactory system”, Developmental Cell, 22, 2, 240-241, 2012. SCI-E Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Editoryal Yazı SCI-E 2012
Deymeer, F., Matur, Z., Poyraz, M., Battaloğlu, E., Oflazer-Serdaroğlu, P., Parman, Y., “Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey reply”, Muscle & Nerve, 46, 2, 296-296, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Mektup SCI-E 2012
Berber, E., Brown, C., İncekara, K., Başlar, Z., Çağlayan, H., Lillicrap, D., “Functional characterization of the type 1 VWD candidate VWF gene variants: P.M771I, p.L881R, p.P1413L, and p.Q1475X”, Blood, 120, 21, 2012. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2012
Mavioğlu, R.N., Boomsma, D.I., Bartels, M., "Causes of Individual Differences in Adolescent Optimism: A Study in Dutch Twins and Their Siblings", European Child & Adolescent Psychiatry, 24, 11, 1381-1388, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Mümtaz, S., Yıldız, E., Jabeen, S., Khan, A., Tolun, A., Malik, S., "RBBP8 Syndrome with Microcephaly, Intellectual Disability, Short Stature and Brachydactyly", American Journal of Medical Genetics Part A, 167, 12, 3148-3152, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Atkinson, D., Kancheva, D., Zimon, M., De Rijk, P., Chamova, T., Mitev, V., Fabrizi, G.M., Topaloğlu, H., Tourney, I., Parman, Y., Battaloğlu, E., Estrada-Cuzcano, A., Jordanova, A., " Novel Mutatıons in Genes Causıng Charcot-Marıe-Tooth Neuropathy and Heredıtary Spastıc Paraplegıa Identıfıed by Homwes", Journal of the Peripheral Nervous System, 20, 2, 98, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2015
Batini, C.,Hallast, P., Zadik, D., Delser, P.M., Benazzo, A., Ghirotto, S., Arroyo-Pardo, E., Cavalleri, G.L., de Knijff, P., Dupuy, B.M., Eriksen, H.A., King, T.E., de Munain, A.L., Lopez-Parra, A.M., Loutradis, A., Milasin, J., Novelletto, A., Pamjav, H., Sajantila, A., Tolun, A., Winney, B., Jobling, M.A., "Large-Scale Recent Expansion of European Patrilineages Shown by Population Resequencing", Nature Communications, 6, 7152, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Bayrak, A.O., Bayrak, I.K., Battaloüglu, E., Özes, B., Yıldız, O., Onar, M.K., "Ultrasonographic Findings in Hereditary Neuropathy With Liability to Pressure Palsies", Neurological Research, 37, 2, 106-111, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Corell, M., Wicher, G., Radomska, K.J., Dağlıkoca, E.D., Godskesen, R.E., Fredriksson, R., Benedikz, E., Magnaghi, V., Svenningsen, A.F., "GABA and Its B-Receptor Are Present at the Node of Ranvier in a Small Population of Sensory Fibers, Implicating a Role in Myelination", Journal of Neuroscience Research, 93, 2, 285-295, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Dede, H.O., Gelişin, O., Baykan, B., Çağlayan, H., Topaloğlu, P., Gürses, C., Bebek, N., Gökyiğit, A., "Definite Sudep in Dravet Syndrome: An Adult Case Report", Journal ff Neurological Sciences-Turkish, 32, 3, 610-616, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Erken, E., Köroğlu, C., Yıldız, F., Özer, H.T.E., Gülek, B., Tolun, A., "A Novel Recessive 15-Hydroxyprostaglandin Dehydrogenase Mutation in A Family With Primary Hypertrophic Osteoarthropathy", Modern Rheumatology, 25, 2, 315-321, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Erten, N., Battaloğlu, E., Erdoğan, A., Seren, E., "A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey", Turkish Journal of Neurology, 21, 3, 124-126, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale ESCI 2015
Fuss, S.H., Bayramlı, X., Çoban, B., Çapar, S., Balı, B., "Birth and Migration of Sensory Neurons in the Adult Zebrafish Olfactory System", Chemical Senses, 40, 3, 229, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E, CPCI-S 2015
Gonzaga-Jauregui, C., Harel, T., Gambin, T., Özeş, B., Battaloğlu, E., et.al., "Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy", Cell Reports, 12, 7, 1169-1183, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Gökerküçük, E.B., Kuey, C., Akyüz, V.K., Yıldırım, K., Kılınç, M., Vilain, S., Uyyterhoeven, V., Verstreken, P., Çelik, A., Battaloğlu, E., ''Not The Morhology But The Functioning of The Neuromuscular Junction is Affected In Drosophila Larvae With Altered Expression of Gdap1 and Mtmr2 Gene Homologs'', Journal of The Peripheral Nervous System, 20, 2, 150-151, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2015
Gökerküçük, E.B., Kuey, C., Akyüz, V.K., Yıldırm, K., Kılınç, M., Vilain, S., Uyyterhoeven, V., Verstreken, P., Çelik, A., Battaloğlu, E., "Not The Morhology But the Functioning of the Neuromuscular Junction is Affected in Drosophila Larvae with Altered Expression of Gdap1 and Mtmr2 Gene Homologs", Journal of the Peripheral Nervous System, 20, 2, 150-151, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E 2015
Gültekin, Y., Eren, E., Özören, N., "Overexpressed NLRC3 Acts as an Anti-Inflammatory Cytosolic Protein", Journal of Innate Immunity, 7, 1, 25-36, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Halbach, M.V., Stehning, T., Damrath, E., Jendrach, M., Şen, N.E., Başak, A.N., Auburger, G., "Both Ubiquitin Ligases FBXW8 and PARK2 Are Sequestrated into Insolubility by ATXN2 PolyQ Expansions, but Only FBXW8 Expression Is Dysregulated", Plos One, 10, 3, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Hallast, P., Batini, C., Zadik, D., Tolun, A., et.al., "The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades", Molecular Biology and Evolution, 32, 3, 661-673, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Hanagasi, H.A., Bilgiç, B., Abbink, T.E.M., Hanagasi, F., Tufekçioğlu, Z., Gurvit, H., Başak, N., van der Knaap, M.S., Emre, M., "Secondary Paroxysmal Kinesigenic Dyskinesia Associated with CLCN2 Gene Mutation", Parkınsonısm & Related Dısorders, 21, 5, 544-546, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Koestler, S.A.,, Alaybeyoğlu, B., Weichenberger, C.X., Çelik, A., "FlyOde - A Platform for Community Curation and İnteractive Visualization of Dynamic Gene Regulatory Networks in Drosophila Eye Development", F1000Research, 4, 1484, 1-6, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale NULL 2015
Kurt, S., Kartal, E., Aksoy, D., Çevik, B., Eken, A.G., Sahbaz, I., Başak, A.N., "Coexistence of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay and Spondyloepiphyseal Dysplasia in a Turkish Patient", Journal of the Neurological Sciences, 357, 1-2, 290-291, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Mavioğlu, R.N., Boomsma, D.I., Bartels, M., "Causes of Individual Differences in Adolescent Optimism: A Study in Dutch Twins and their Siblings",  European Child &Adolescent Psychiatry, 24, 11, 1381-1388, 2015.    Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SSCI 2015
Özcan, Z., Gül, G., Yaman, I., "Ochratoxin a Activates Opposing C-MET/PI3K/Akt And MAPK/ERK 1-2 Pathways in Human Proximal Tubule HK-2 Cells", Archıves of Toxıcology, 89, 8, 1313-1327, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Özes, B., Sivacı, M., Akyüz, K., Durmuş, H., Deymeer, F., Oflazoğlu, P., Parman, Y., Battaloğlu, E., "Genetic Survey of a Large Cohort of Cmt Patients from Turkey Revealed Equal Frequencies of Cmt1a Duplication and Hnpp Deletion", Journal of the Peripheral Nervous System, 20, 2, 205, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2015
Özeş, B., Sıvacı, M., Akyüz, K., Durmuş, H., Deymeer, F., Oflazoğlu, P., Parman, Y., Battalogğlu, E., “Genetic Survey of A Large Cohort of Cmt Patients From Turkey Revealed Equal Frequencies of Cmt1a Duplication and Hnpp Deletion”, 2015 PNS Meeting, 2015, Quebec City, Quebec, Canada, Peripheral Nerve Society, Meeting Guide, 194, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri NULL 2015
Özoğuz, A., Uyan, O., Birdal, G., Iskender, C., Kartal, E., Lahut, S., Ömur, O., Agim, Z.S., Eken, A.G., Şen, N.E., Kavak, P., Saygı, C., Sapp, P.C., Keagle, P., Parman, Y., Tan, E., Koç, F., Deymeer, F., Oflazer, P., Hanagasi, H., Gurvit, H., Bilgiç, B., Durmuş, H., Ertaş, M., Kotan, D., Akalın, M.A., Güllüoğlu, H., Zarifoğlu, M., Aysal, F., Dosolu, N., Bilguvar, K., Günel, M., Keskin, O., Akgün, T., Özçelik, H., Landers, J.E., Brown, R.H., Başak, A.N., "The Distinct Genetic Pattern of ALS in Turkey and Novel Mutations", Neurobiology of Aging, 36, 4, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Sahillioğlu, A.C., Özören, N., "Artificial Loading of ASC Specks with Cytosolic Antigens", Plos One, 10, 8, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Samancı, B.M., Durmuş, H., Özoğuz, A., Oflazer-Serdaroğlu, P., Deymeer, F., Başak, A.N., Parman, Y., "Clinical and Genetic Characteristics of 20 als Patients from Turkey with Sod1 Mutations", Journal of the Peripheral Nervous System, 20, 2, 224-225, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCI-S 2015
Seven, M., Güven, A., Bozoğlu, T.M., Tolun, A., "Detecting Porcn Microdeletions in A Large Family With Focal Dermal Hypoplasia", Genetic Counseling, 26, 2, 195-204, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Syrbe, S., Hedrich, U., Riesch, E., Çağlayan, H. et al.,"De Novo Loss- or Gain-of-Function Mutations in Kcna2 Cause Epileptic Encephalopathy", Epilepsia, 56, 77, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti SCI-E, CPCIS 2015
Syrbe, S., Hedrich, U.B.S., Riesch, E., Çağlayan, H., et.al., "De Novo Loss- or Gain-of-Function Mutations in KCNA2 Cause Epileptic Encephalopathy", Nature Genetics, 47, 4, 393, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Usluer, S., Türkdoğan, D., Çağlayan, H.S., "Inherited Kcnq2 Duplication in 3 Patients With Benign Neonatal Seizures", Epilepsia, 56, 221, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E, CPCI-S 2015
Usluer, S., Türkdoğan, D., Çağlayan, H.S., “Inherited KCNQ2 Duplication in 3 Patients with Benign Neonatal Seizures”, 31st International Epilepsy Congress, 3-263, İstanbul, Türkiye, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Bildiri NULL 2015
Weilemann, A., Grau, M., Erdmann, T., Merkel, O., Emre, N.C.T., et.al., "Essential Role of IRF4 and MYC Signaling for Survival of Anaplastic Large Cell Lymphoma", Blood, 125, 1, 124-132, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Yüceyar, N., Ayhan, O., Karasoy, H., Tolun, A., "Homozygous MYH7 R1820W Mutation Results in Recessive Myosin Storage Myopathy: Scapuloperoneal and Respiratory Weakness With Dilated Cardiomyopathy", Neuromuscular Disorders, 25, 4, 340-344, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Zimon, M., Battaloğlu, E., Parman, Y., Erdem, S., Baets, J., De Vriendt, E., Atkınson, D., Almeida-Souza, L., Deconinck, T., Özes, B., Goossens, D., Çırak, S., Van Damme, P., Shboul, M., Voit, T., Van Maldergem, L., Dan, B., El-Khateeb, M.S., Guergueltcheva, V., Lopez-Laso, E., Goemans, N., Masri, A., Zuchner, S., Timmerman, V., Topaloğlu, H., De Jonghe, P., Jordanova, A., "Unraveling the Genetic Landscape of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach", Neurogenetics, 16, 1, 33-42, 2015. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2015
Georg Auburger, Suzana Gispert, Suna Lahut, Ozgur Omur, Ewa Damrath, Melanie Heck, A.Nazli Basak, 12q24 locus association with type 1 diabetes: SH2B3 or ATXN2, World Journal Diabetes, 5(3): , 15;, 316-327, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SSCI 2014
Gündüz A, Eken AG, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak AN, Ertan S , 'FBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family',Parkinsonism & Related Disorders, 20, 11, 1253-1256, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SCI-E 2014
Suna Lahut, David Vadasz,Candan Depboylu, Vincent Ries,Martina Krenzer,Karin Stiasny-Kolster, A. Nazli Basak,Wolfgang H. Oertel , Georg Auburger, The PD-associated alpha-synuclein promoter Rep1 allele 2shows diminished frequency in restless legs syndrome , Neurogenetics, s10048-014-040, 10048-014, 2014 Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Makale SSCI 2014
İskender, C., Eken, A.G., Özoğuz, A., Akimoto, C., Alstermark, H., Andersen, P.M., Başak, A.N., 'C9orf72 hexanucleotide repeat expansion in Turkish ALS patients', European Journal of Neurology,  Meeting Abstract: EP4118, 21, 328-328, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
İskender, C., Eken, A.G., Özoğuz, A., Akimoto, C., Alstermark, H., Andersen, P.M., Başak, A.N., 'C9orf72 hexanucleotide repeat expansion in Turkish ALS patients', Journal of Neurology,  Meeting Abstract:EP4118, 261, S222-S222, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Jiang, .ZH., Huang, S.W., Luo, H.Y., Akar, N., Basak, A.N.,et al. 'Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (-AA) beta(0)-Thalassemia Mutation',Blood 124, 21, 2014.   Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Kurt, S., Kartal, E., Aksoy, D., Cevik, B., Eken, A.G., Şahbaz, I., Basak, N., 'Coexistance of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient', European Journal of Neurology,  Meeting Abstract: PP4196, 21, 691-691, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Kurt, S., Kartal, E., Aksoy, D., Çevik, B., Eken, A.G., Şahbaz, I., Başak, N., 'Coexistance of autosomal recessive spastic ataxia of charlevoix saguenay and spondyloepiphyseal dysplasia in a Turkish patient', Journal of Neurology,  Meeting Abstract:PP4196, 261, S448-S448, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014
Lahut, S., Omur, O., Gispert, S., Pirkevi, C., Tireli, H., Herrmann, E., Brehm, A.N., Başak, N., Auburger, G., 'A large Turkish Parkinson pedigree with alpha-synuclein duplication: blood expression biomarker profile for predictive diagnostics', Journal of Neurology,  Meeting Abstract: OS2114, 261, S41-S41, 2014. Moleküler Biyoloji ve Genetik Fen-Edebiyat Fakültesi Toplantı Özeti CPCI-S 2014

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