The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

Autor: Ocal G, Berberoglu M, Siklar Z, Ruhi HI, Tükün A, Camtosun E, Erdeve SS, Hacihamdioglu B, Fitöz S, Ocal, Gönül, Berberoğlu, Merih, Sıklar, Zeynep, Ruhi, Hatice Ilgın, Tükün, Ajlan, Camtosun, Emine, Savaş Erdeve, Senay, Hacıhamdioğlu, Bülent, Fitöz, Suat

Publikováno v: European Journal of Pediatrics; Oct2012, Vol. 171 Issue 10, p1497-1502, 6p

De novo germline TP53 mutation in a pediatric patient with Li-Fraumeni syndrome and diffuse peritoneal mesothelioma.

Autor: Ortaköylü MY; Division of Pediatric Oncology, Department of Pediatrics, Ankara University, Ankara, Turkey., Özdemir Sİ; Division of Pediatric Oncology, Department of Pediatrics, Ankara University, Ankara, Turkey., Dinçaslan H; Division of Pediatric Oncology, Department of Pediatrics, Ankara University, Ankara, Turkey., Taçyıldız N; Division of Pediatric Oncology, Department of Pediatrics, Ankara University, Ankara, Turkey., Ateş U; Department of Pediatric Surgery, Ankara University, Ankara, Turkey., Ünal AE; Department of General Surgery, Ankara University, Ankara, Turkey., Soydal Ç; Department of Nuclear Medicine, Ankara University, Ankara, Turkey., Fitoz ÖS; Division of Pediatric Radiology, Radiology Department, Ankara University, Ankara, Turkey., Karabulut HG; Department of Medical Genetics, Ankara University, Ankara, Turkey., Ruhi HI; Department of Medical Genetics, Ankara University, Ankara, Turkey., Ünal EC; Division of Pediatric Oncology, Department of Pediatrics, Ankara University, Ankara, Turkey.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Aug; Vol. 71 (8), pp. e31071. Date of Electronic Publication: 2024 May 21.

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

Autor: Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey. dundar@erciyes.edu.tr., Fahrioglu U; Department of Medical Biology, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com.; DESAM Institute, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com.; Genetics and Cancer Diagnosis-Research Centre, Centre of Excellence, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com., Yildiz SH; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Bakir-Gungor B; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Akin H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Cora T; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Sahin FI; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Dursun A; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bulent Ecevit University, Zonguldak, 67600, Turkey., Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Gurkan H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Erdogan M; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Gunduz CNS; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Bisgin A; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Ozdemir O; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, 17100, Turkey., Ulgenalp A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Percin EF; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey., Yildirim ME; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Tekes S; Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Bagis H; Department of Medical Genetics, Faculty of Medicine, Adiyaman University, Adiyaman, 02040, Turkey., Yuce H; Department of Medical Genetics, Faculty of Medicine, Duzce University, Duzce, 81620, Turkey., Duman N; Department of Medical Genetics, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Bozkurt G; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Yararbas K; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Yildirim MS; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, 42080, Turkey., Arman A; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, 34854, Turkey., Mihci E; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Eraslan S; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koc University, Istanbul, 34010, Turkey., Altintas ZM; Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, 33343, Turkey., Aymelek HS; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey.; Division of Medical Genetics, Bursa City Hospital, Bursa, 16110, Turkey., Ruhi HI; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Tatar A; Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, 25240, Turkey., Ergoren MC; DESAM Institute, Near East University, 99138, Nicosia, Cyprus.; Department of Medical Genetics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Cetin GO; Department of Medical Genetics, Faculty of Medicine, Pamukkale University, Denizli, 20070, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey.; Department of Medical Genetics, Faculty of Medicine (KUSOM), Koc University, Istanbul, 34010, Turkey., Caglayan AO; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Medical Genetics, Faculty of Medicine, Istanbul Bilim University, Istanbul, 34394, Turkey., Yuksel B; Department of Medical Genetics, Faculty of Medicine, Usak University, Usak, 64050, Turkey., Ozkul Y; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Saatci C; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kenanoglu S; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Karasu N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Dundar B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Ozcelik F; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Demir M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey., Siniksaran BS; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kulak H; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey., Kiranatlioglu K; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Baysal K; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kazimli U; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Akalin H; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Dundar A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Boz M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Bayram A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Etlik Zubeyde Hanim Women's Diseases Education and Research Hospital, Ankara, 06050, Turkey., Subasioglu A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Izmir Katip Celebi University, Izmir, 35620, Turkey., Colak FK; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, 46040, Turkey., Karaduman N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Division of Medical Genetics, Kirikkale High Specialization Hospital, Kirikkale, 71300, Turkey., Gunes MC; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, 41001, Turkey., Kandemir N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, 06110, Turkey., Aynekin B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Emekli R; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Sahin IO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Ozdemir SY; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Uskudar University, Istanbul, 34662, Turkey., Onal MG; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Senel AS; Department of Rheumatology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Poyrazoglu MH; Department of Pediatrics, Division of Nephrology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kisaarslan ANP; Department of Child Health and Diseases, Division of Pediatric Rheumatology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Gursoy S; Department of Gastroenterology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Baskol M; Department of Gastroenterology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Calis M; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Demir H; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Zararsiz GE; Department of Biostatistics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Erdogan MO; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Elmas M; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Solak M; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Ulu MS; Department of Internal Medicine, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Thahir A; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Aydin Z; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Atasever U; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Aliyeva L; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Alemdar A; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Dogan B; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Erguzeloglu CO; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Kaya N; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey.; Department of Pediatrics and Health, Genetics and Teratology, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Cogulu O; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey.; Department of Pediatrics and Health, Genetics and Teratology, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Durmaz A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Onay H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Karaca E; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Durmaz B; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Cilingir O; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Aras BD; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Gokalp EE; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Arslan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Temena A; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Haziyeva K; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Kocagil S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Bas H; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Susam E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Keklikci AR; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Sarac E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Kocak N; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Nergiz S; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Terzi YK; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Dincer SA; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Baskin ES; Department of Pediatric Nephrology, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Genc GC; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bulent Ecevit University, Zonguldak, 67600, Turkey., Bahadir O; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Sanri A; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Yigit S; Department of Genetics, Faculty of Veterinary, Ondokuz Mayis University, Samsun, 55270, Turkey.; Department of Medical Biology, Faculty of Medicine, Gaziosmanpasa University, Tokat, 60030, Turkey., Tozkir H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Yalcintepe S; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Ozkayin N; Department of Pediatrics, Division of Nephrology, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Kiraz A; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Balta B; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Gonen GA; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Kurt EE; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Ceylan GG; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Ceylan AC; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Erten S; Department of Rheumatology, Ataturk Training Research Hospital, Ankara Yildirim Beyazit University, Ankara, 06230, Turkey., Bozdogan ST; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Boga I; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Yilmaz M; Division of Pediatric Rheumatology, Faculty of Medicine, Cukurova University, Adana, 01790, Turkey., Silan F; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, 17100, Turkey., Kocabey M; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Koc A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Cankaya T; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Bora E; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Bozkaya OG; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Ercal D; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Ergun MA; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey., Ergun SG; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey.; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey., Duman YS; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Beyazit SB; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Uzel VH; Department of Pediatric Hematology, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Em S; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Cevik MO; Department of Medical Genetics, Faculty of Medicine, Adiyaman University, Adiyaman, 02040, Turkey., Eroz R; Department of Medical Genetics, Faculty of Medicine, Duzce University, Duzce, 81620, Turkey., Demirtas M; Department of Medical Genetics, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Firat CK; Department of Child Health and Diseases, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Kabayegit ZM; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Altan M; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Mardan L; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Sayar C; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Tumer S; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Turkgenc B; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Karakoyun HK; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Tunc B; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Kuru S; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Zamani A; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, 42080, Turkey., Geckinli BB; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, 34854, Turkey., Ates EA; Department of Medical Genetics, Marmara Teaching and Research Hospital, Marmara University, Istanbul, 34899, Turkey., Clark OA; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Toylu A; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Coskun M; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Nur B; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Bilge I; Department of Pediatric Nephrology, Koc University Hospital, Istanbul, 34010, Turkey., Bayramicli OU; Department of Gastroenterology and Hepatology, Med American Ambulatory Care Center, Istanbul, 34724, Turkey., Emmungil H; Department of Rheumatology, Faculty of Medicine, Trakya University, Edirne, 22100, Turkey., Komesli Z; Department of Internal Medicine, Koc University Hospital, Istanbul, 34010, Turkey., Zeybel M; Department of Gastroenterology and Hepatology, Faculty of Medicine, Koc University, Istanbul, 34010, Turkey., Gurakan F; Department of Pediatrics, VKV American Hospital, Istanbul, 34365, Turkey., Tasdemir M; Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Koc University, Istanbul, 34010, Turkey., Kebudi R; Department of Pediatric Hematology-Oncology, Institute of Oncology, Istanbul University, Istanbul, 34093, Turkey., Karabulut HG; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Tuncali T; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Kutlay NY; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Kahraman CY; Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, 25240, Turkey., Onder NB; Department of Pediatrics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Beyitler I; Department of Pediatrics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Kavukcu S; Department of Pediatric Nephrology, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Tulay P; DESAM Institute, Near East University, 99138, Nicosia, Cyprus.; Department of Medical Genetics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Tosun O; Department of Biostatistics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Tuncel G; DESAM Institute, Near East University, 99138, Nicosia, Cyprus., Mocan G; Department of Pathology, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Kale H; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey., Acar A; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey., Altinay M; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey., Erdem L; Department of Internal Medicine, Faculty of Medicine, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey.

Publikováno v: Functional & integrative genomics [Funct Integr Genomics] 2022 Jun; Vol. 22 (3), pp. 291-315. Date of Electronic Publication: 2022 Jan 31.

Analysis of Xq27.3 Fragility Using the Micronucleus-Fluorescence In situ Hybridization Assay.

Autor: Özer L; Mikrogen Genetic Diagnosis Center, Ankara, Turkey.; Division of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Ruhi HI; Division of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Bökesoy I; Division of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

Publikováno v: Genome integrity [Genome Integr] 2020 Aug 13; Vol. 11, pp. 1. Date of Electronic Publication: 2020 Aug 13 (Print Publication: 2020).

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.

Autor: Kan Karaer D; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.; Department of Medical Genetics, Dr. Ersin Arslan Research and Training Hospital, Gaziantep, Turkey., Ergün MA; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey., Ruhi HI; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Öztürk J; Provincial Health Directorate, Ankara, Turkey., Kara H; Provincial Health Directorate, Ankara, Turkey., Reisoğlu Çakmak D; Provincial Health Directorate, Ankara, Turkey., Aydoğmuş T; Provincial Health Directorate, Ankara, Turkey., Perçin EF; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.

Publikováno v: Turkish journal of medical sciences [Turk J Med Sci] 2017 Jun 12; Vol. 47 (3), pp. 973-978. Date of Electronic Publication: 2017 Jun 12.