Investigation of the relationship between reproductive disorders and chromosomal abnormalities in a large-scale, single-center 10-year retrospective study

Autor: Ertosun, Mustafa Gokhan, Araci, Duygu Gamze, Peker, Alp, Uzuner, Sezin Yakut, Toylu, Aslı, Ozekinci, Murat, Usta, Mustafa Faruk, Altiok Clark, Ozden

Publikováno v: In Journal of Gynecology Obstetrics and Human Reproduction November 2022 51(9)

Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability

Autor: Banu Güzel Nur, Ercan Mihci, Tuğba Karaman Mercan, Abdullah Utku Senol, Ozgur Erkal, Birsen Karaman, Sibel Berker Karauzum, Ozden Altiok Clark

Publikováno v: Cytogenetic and Genome Research. 161:153-159

Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that inc

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https://doi.org/10.1159/000515368

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Autor: ERTEN, ŞÜKRAN, DÜNDAR, MUNİS, Altinay, Mert, Bakir-Gungor, Burcu, TEMEL, ŞEHİME GÜLSÜN, AKIN, HALUK, ARTAN, SEVİLHAN, Acar, Aynur, Cora, Tulin, ŞAHİN, FERİDE İFFET, DURSUN, AHMET, Sezer, Ozlem, GÜRKAN, HAKAN, Erdogan, Murat, Kebudi, Rejin, ÇİLİNGİR, OĞUZ, AYKUT, AYÇA, Durmaz, Burak, EMMUNGİL, HAKAN, KARACA, EMİN, Emekli, Rabia, Gonen, Gizem Akinci, Onay, Huseyin, DURMAZ, ASUDE, Balta, Burhan, Aynekin, Busra, KANDEMİR, NEFİSE, Kiraz, Aslihan, ÇOĞULU, MUHSİN ÖZGÜR, Gunes, Meltem Cerrah, KARADUMAN, NESLİHAN, Ozkayin, Nese, ÖZKINAY, FERİŞTAH FERDA, YALÇINTEPE, SİNEM, ÇOLAK, Fatma, SUBAŞIOĞLU, Aslı, Haziyeva, Konul, Bayramicli, Oya Uygur, Bilge, Ilmay, Kaya, Niyazi, Bayram, Arslan, Erguzeloglu, Cemre Ornek, KAVUKÇU, SALİH, DOĞAN, BERKCAN, Tuncel, Gulten, Mocan, Gamze, Kale, Hamdi, Gurakan, Figen, Uyguner, Zehra Oya, Tunc, Betul, Kuru, Seda, Boz, Mehmet, Dundar, Ayca, AKALIN, HİLAL, KAZIMLI, ULVIYYA, Zeybel, Mujdat, BAYSAL, KÜBRA, Zamani, Aysegul, GEÇKİNLİ, BİLGEN BİLGE, Uzel, Veysiye Hulya, DURAK ARAS, BEYHAN, Kiranatlioglu, Kubra, Ates, Esra Arslan, KULAK ABAY, HANDE, COŞKUN, MERT, EM, SERDA, ALTIOK CLARK, ÖZDEN, TOYLU, ASLI, TOZKIR, HİLMİ, Komesli, Zeynep, KOCAGİL, SİNEM, ÇEVİK, MUHAMMER ÖZGÜR, Eroz, Recep, Demirtas, Mercan, FIRAT, CEM KORAY, ERGÜN, MEHMET ALİ, YÜCE KAHRAMAN, Çiğdem, Yigit, Serbulent, Sanri, Aslihan, Siniksaran, Betul Seyhan, DEMİR, MİKAİL, ÖZÇELİK, FIRAT, Dundar, Bilge, BAŞ, HASAN, SUSAM, EZGİ, Karakoyun, Hilal Keskin, KARASU, NİLGÜN, Kenanoglu, Sercan, SAATÇİ, ÇETİN, ÖZKUL, YUSUF, Temena, Arda, Yuksel, Berrin, ÇAĞLAYAN, AHMET OKAY, BAHADIR, Oğuzhan, Genc, Gunes Cakmak, KEKLİKCİ, ALİ RIZA, Altunoglu, Umut, Sarac, Elif, Baskin, Esra Sidika, TOSUN, ÖZGÜR, Tulay, Pinar, Kabayegit, Zehra Manav, Altan, Mustafa, Mardan, Lamiya, Sayar, Ceyhan, ERZURUMLUOĞLU GÖKALP, EBRU, ÇETİN, GÖKHAN OZAN, Turkgenc, Burcu, Arslan, Serap, Tumer, Sait, NUR, BANU, Ergoren, Mahmut Cerkez, Onder, Nerin Bahceciler, KOÇAK, NADİR, Tasdemir, Mehmet, NERGİZ, SÜLEYMAN, Beyitler, Ilke, KUTLAY, NÜKET, TUNCALI, TİMUR, BEYAZIT, ŞERİFE BÜŞRA, SEMERCİ GÜNDÜZ, CAVİDAN NUR, SIDAR DUMAN, YEŞİM, Ergun, Sezen Guntekin, Ercal, Derya, ALEMDAR, ADEM, ALIYEVA, LAMIYA, ÖZEMRİ SAĞ, ŞEBNEM, Atasever, Umut, AYDIN, ZAFER, Thahir, Adam, TATAR, Abdulgani, ILGIN RUHİ, HATİCE, TERZİ, YUNUS KASIM, BİŞGİN, ATIL, Dincer, Selin Akad, ÖZDEMİR, ÖZTÜRK, ÜLGENALP, AYFER, PERÇİN, FERDA EMRİYE, YILDIRIM, MALİK EJDER, Ulu, Memnune Sena, Solak, Mustafa, Elmas, Muhsin, ÖZDEMİR ERDOĞAN, MÜJGAN, Zararsiz, Gozde Erturk, DEMİR, HÜSEYİN, ÇALIŞ, MUSTAFA, BAŞKOL, MEVLÜT, Aymelek, Huri Sema, ALTINTAŞ, ZUHAL, Eraslan, Serpil, KURT, EMİN EMRE, Erdem, Levent, FAHRİOGLU, UMUT, GÜLEÇ CEYLAN, GÜLAY, Sahin, Izem Olcay, CEYLAN, AHMET CEVDET, TUĞ BOZDOĞAN, SEVCAN, BOĞA, İBRAHİM, Yildiz, Saliha Handan, KARABULUT, HALİL GÜRHAN, YILMAZ, MUSTAFA, TEKEŞ, SELAHADDİN, SILAN, FATMA, KOCABEY, MEHMET, KOÇ, ALTUĞ, ÇANKAYA, TUFAN, BAĞIŞ, HAYDAR, BORA, ELÇİN, GİRAY BOZKAYA, ÖZLEM, ÖZDEMİR, Sevda Yeşim, ÖNAL, MÜGE GÜLCİHAN, ŞENEL, ABDURRAHMAN SONER, POYRAZOĞLU, MUAMMER HAKAN, PAÇ KISAARSLAN, AYŞENUR, GÜRSOY, ŞEBNEM, YÜCE, HÜSEYİN, DUMAN, NİLGÜN, BOZKURT, GÖKAY, Yararbas, Kanay, YILDIRIM, MAHMUT SELMAN, ARMAN, AHMET, MIHÇI, ERCAN

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestat

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https://avesis.gazi.edu.tr/publication/details/cd169be6-fe9e-4955-9f97-fb13b3622339/oai

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Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia.

Autor: Cetin, Z.¹, Altiok‐Clark, O.², Sevuk, M.³, Berker Karauzum, S.¹

Publikováno v: Andrologia. Feb2015, Vol. 47 Issue 1, p112-115. 4p.