SCI-SSCI, SCI Expanded ve AHCI Kapsamındaki Yayınları

• Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. Am J Med Genet A. 2021 Dec 9. doi: 10.1002/ajmg.a.62602. Epub ahead of print. PMID: 34890115 (Aralık 2021)

• B. Karaman, S. Ergin, H. Kayserili, A. Yuksel, N. Satkin, I. Kalelioglu, R. Has, S. Basaran, HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES, 10.26650/IUITFD.2020.0071, JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol. 84, no. 2, pp. 186-191, 2021

• Satkin, N. B., Karaman, B., Ergin, S., Kayserili, H., Kalelioglu, I. H., Has, R., ... & Basaran, S. (2020). Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements. Balkan Journal of Medical Genetics, 23(2), 25-34. (Şubat 2020)

• Basaran S, Has R, Kalelioglu I, Karaman B, Dehgan T, Satkin BN, Yuksel A. "Follow-up studies of cf-DNA testing from 101 consecutive fetuses and related ultrasound findings." Ultraschall in der Medizin-European Journal of Ultrasound 41.02 (2020): 175-185. (Şubat 2020)

• Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Mild nasal clefting may be predictive for ALX4 heterozygotes. Am J Med Genet A. 2014 Aug;164(8):2054-8. (Ağustos 2014)

• Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014 Apr 24;157(3):651-63. (Nisan 2014)

• Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum. Am J Med Genet A. 2014 Mar;164A(3):837-40. (Mart 2014)

• Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Am J Med Genet A. 2014 Feb;164A(2):484-9. (Şubat 2014)

Uluslararası Bilimsel Toplantılarda Sunulan ve Bildiri Kitabında Basılan Bildiriler (Proceedings)

• Ece Çepni , Esra Yücel , Şahin Avcı , N. Bilge Satkın , Hülya Kayserili. Revisiting TOP2B-Related Phenotypes: Turkish family with Three Affecteds in Two Generations. European Human Genetics Conference. June 11-14, 2022, Vienna, Austria (Haziran 2022)

• Birsen Karaman, Hülya Kayserili, Adam Najafli, Umut Altunoğlu, Gökçe Kumbasar, Şahin Avcı, Somayyeh Heidargholizadeh, Oya Uyguner, Bilge Nihan Satkin, Guven Toksoy, Seher Başaran. The application of array CGH for monogenic disorders; clinical and molecular cytogenetic characterization of twenty patients. 11th European Cytogenetics Conference 2017 (Florence, Italy, July 1 -4, 2017). Molecular cytogenetics 2017, 10(suppl 1):20 (Temmuz 2017)

• B.Karaman, N. Satkin, U. Altunoglu, G. Toksoy, H. Kayserili, O. Uyguner, S. Basaran. Homozoygous shox gene deletion detected by array CGH in a girl with langer mesomelic dysplasia. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy . J11.01 (Haziran 2014)

• T. Kalayci, N. B. Satkın, U. Altunoğlu, B. Karaman, H. Kayserili. 17q22 microdeletion syndrome; a case report. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy . J11.01 (Mayıs 2014)

• Sahin Avcı, Bilge Nihan Satkın, Z. Oya Uyguner, Umut Altunoğlu, Hülya Kayserili. Aarskog-Scott syndrome: Four molecularly proven cases. European Human Genetics Conference 2013. June 8-11, 2013, Paris, France (Haziran 2013)

• Birsen Karaman, Bilge Nihan Satkin, Hulya Kayserili, Seher Basaran. Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases. 10th European Cytogenetic Conference.2013,Dublin. (Haziran 2013)

• Hülya Kayserili, Umut Altunoglu, Bilge Satkın. Expanding the spectrum for KIF7 related phenotypes : The mildest and of the spectrum. 15. Manchester Dysmorphology Conference, Manchester, England. October 22-25 2012 (Ekim 2012)

• B Karaman, B Satkin, IH Kalelioglu, R Has, S Ergin, H Kayserili, H Ermis, A Yuksel, S Basaran. Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally. European Human Genetics Conference 2012. Nurnberg, Germany. (Haziran 2012)

• S. Ergin, B. Karaman, B. Satkin, Kalelioglu I., Kayserili H., Basaran S. Array-CGH results in fetuses with central nervous system . European Human Genetics Conference 2012. Nurnberg, Germany (Haziran 2012)

• B.Satkin, B. Karaman, K. Yilmaz, U. Altunoglu, S. Basaran. Step by step, Formation of complex chromosomal rearrangements.European Human Genetics Conference 2012. Nurnberg, Germany (Haziran 2012)

• B.Satkin, I. Kalelioglu, B.Karaman, R.Has, H. Kayserili, K.Aydinli, D.Acarsoz, H.Ermis, A.Yuksel, S.Basaran. Haploinsufficiency of SHH gene caused by deletion of 7q36->qter :Holoprosencephaly sequence in 5 cases. 9th European Cytogenetic Conference.2011,Porto. (Mayıs 2011)

• Bilge S., S. Palanduz, B. Karaman, G. Bagatir, M.Yenerer. Variant Philadelphia Translocations in patient with Chronic Myeloid Leukemia. 7th European Cytogenetic Conference.2009, Stockholm. (Haziran 2009)

• Bagatir G, Ozturk S, Palanduz S, Satkin Bilge , Kıvanc C, Meliha N. A case with Burkitt leukemia and karyotype result [t(8;14)(q24;q32), der(6) del (6) (q25)t(1;6) dup (1)(21.1qtel). Turkish Journel of Hematolgy Supplement 1. Vol.24 No:4 2007, pg 23. (a case report) (Temmuz 2007)

Ulusal Hakemli Dergilerde Yayınlanan Makaleler

• Karaman, B., Ergin, S., KAYSERİLİ, H., Yüksel, A., Satkin, N. B., KALELİOĞLU, İ. H., ... & Başaran, S. (2021). Holoprosencephaly: Chromosomal Abnormalities In The Etiopathogenesis Of 127 Antenatal Cases. Journal of Istanbul Faculty of Medicine, 84(2), 186-191. (Şubat 2021)

Ulusal Konferans ve Sempozyumlar

• N.Bilge Satkın, Kılıç G, Osmanbaşoğlu E, Kalyon H, Akay O.M, Eraslan S1& Ferhanoğlu B. IGVH mutasyon durumu, karyotip ve interfaz FISH verileri ile KLL’de karşılaştırmalı genetik karakterizasyon: 50 hastada KUH-GHDM deneyimi. 1. Ulusal Hematoonkogenetik kongresi. 25-27 Kasım-2022, Antalya. (Kasım 2022)

• B.Satkin, I. Kalelioglu, B.Karaman, R.Has H. Kayserili, K.Aydinli, D.Acarsoz, H.Ermis, A.Yuksel, S.Basaran. Clinical and ultrasonographic findings of fetuses with trisomy 21, 18 and 13 cases diagnosed prenatally in amniotic fluid samples. XI. National Medical Biology and Genetics Congress.2011, Istanbul (Kasım 2011)

• Satkin Bilge, Karaman Birsen, Kayserili Hulya, Kirmizi Nuray, Basaran Seher. The spectrum of phenotypic and genotypic in Turner syndrome. Endocrine diseases and genetics symposium.2009,Abant,Turkey. (Kasım 2009)

Projeler

• Nadir DNA Onarim Bozukluklari için Olaganüstü Öneme Sahip Beslenme Müdahaleleriyle Transkripsiyonel Stresin önlenmesi, 2022

• PIK3CA-Iliskili Asiri Büyüme Sendromlarinda Postzigotik-Düsük Oranli Mozaik Mutasyonlarin Belirlenmesi , 2021-2021

• Fenotipik olarak etkilenmis görünürde dengeli de novo kromozom anomalisi tasiyan 20 olgunun a CGH sonuçlari, 2013-2013

• Hiyalin Fibromatozis Sendromunun Dogal Seyri (klinik ve hücresel düzeyde, 2013-2013

• SNP mikroarray teknolojisinin dengesiz genomik yeniden düzenlemelerin tanimlanmasina katkisi, 2008-2008

Adli Genetik

İnsan Genetiği ve Genomu

Omik Teknolojileri

Sitogenetik