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» Publications

SCI-SSCI or SCI Expanded Articles

  • 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 (December 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. (February 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. (February 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. (August 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. (April 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. (March 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. (February 2014)

International Conference Proceedings

  • .GÜRKAN HAKAN,ATLI ENGIN,Özüpek Nilay,SATKIN NIHAN BILGE,Zhuri Drenusha,Sezginer Güler Hazal,DEMIR SELMA,TOPALOGLU SERNAZ,SEZER YAVUZ ATAKAN,TASTEKIN EBRU,TUNÇBILEK NERMIN, Investigation of variant distribution and frequency in triple negative breast cancer patients living in theTrakya Region of Turkey: A Single Center Experience, European Human Genetics Hybrid Conference 2024. (June 2024)
  • .ALTUNOGLU UMUT,Kaya Mert,SATKIN NIHAN BILGE,BÖRKLÜ TIRPANCI ESRA, Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer, EUROPEAN JOURNAL OF HUMAN GENETICS, 2024. (June 2024)
  • SATKIN NIHAN BILGE,Çiçek Ece,Kütükçü Ayhan,TUNCA ALPARSLAN GÜZIN, Preliminary studies of human Pseudogene and Homology Database (hPHD), European Human Genetics Hybrid Conference 2024. (June 2024)
  • .ATLI ENGIN,SATKINNIHAN BILGE, Whole Exome Sequencing Analysis Results In Patients With Epilepsy Of Unknown Cause: Single Center Experience., Union Of Thrace Universities Vi. International Health Sciences Congress, 2023 (November 2023)
  • .Kaya Sevval,ATLI EMINE IKBAL,ATLI ENGIN,SATKIN NIHAN BILGE,GÜRKAN HAKAN, A De Novo Large 5q35 Duplication As A Result Of Translocation; Reversed Sotos Syndrome With Craniosynostosis., 14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting, Skopje-MAKEDONYA, 2023 (October 2023)
  • 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 (June 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 (July 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 (June 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 (May 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 (June 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. (June 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 (October 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. (June 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 (June 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 (June 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. (May 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. (June 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) (July 2007)

National Articles

  • 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. (February 2021)

National Conferences and Symposiums

  • 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. (November 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 (November 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. (November 2009)

Projects

  • .KLL Olgularinda Kritik Öneme Sahip IGHV Somatik Hipermutasyon Durumunun Tespitine Yönelik Tani Kiti Gelistirilmesi, 2024-2024.
  • .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.