المؤلفون: Sahin Eroglu, D, Dalva, K, Azap, A, Kutlay, NY, Ates, A, Yuksel, MK

المصدر: Scandinavian Journal of Rheumatology; Nov2023, Vol. 52 Issue 6, p703-704, 2p

مصطلحات موضوعية: BRUTON tyrosine kinase, RHEUMATOID arthritis, LYMPHOCYTIC leukemia, HEPATITIS B vaccines, CHRONIC leukemia, PROTEIN-tyrosine kinase inhibitors, CHRONIC lymphocytic leukemia, HEPATITIS B

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المؤلفون: Akalin I, Kutlay NY, Ilhan O, Tukun A

المصدر: International Journal of Laboratory Hematology; Jun2007, Vol. 29 Issue 3, p215-220, 6p

المؤلفون: Kiraz A; Kayseri City Training and Research Hospital, Genetic Diseases Evaluation Center, Kayseri, Turkey., Sezer O; Samsun Training and Research Hospital, Genetic Diseases Evaluation Center, Samsun, Turkey., Alemdar A; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey., Canbek S; Umraniye Training and Research Hospital, Genetic Diseases Evaluation Center, Health Sciences University, Istanbul, Turkey., Duman N; Department of Medical Genetics, Dragos Hospital, Bezmialem Vakıf University, Istanbul, Turkey., Bisgin A; Medical Genetics Department of Medical Faculty, AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey., Cora T; Department of Medical Genetics, Faculty of Medicine, Selcuk University, Konya, Turkey., Ruhi HI; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Ergoren MC; Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus., Geçkinli BB; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Gözden HE; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.; Department of Haematology, Bursa Yuksek Ihtısas Training and Research Hospital, Health Sciences University, Bursa, Turkey., Oz O; Department of Medical Genetics, Faculty of Medicine, Harran University, Sanlıurfa, Turkey., Altıntaş ZM; Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey., Yalcıntepe S; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey., Keskin A; Department of Biochemistry, Institute of Health Sciences, Adnan Menderes University, Aydın, Turkey., Tak AY; Department of Biostatistics and Medical Informatics, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey., Paskal ŞA; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Yürekli UF; Department of Medical Biochemistry, Sanlıurfa Mehmet Akif İnan Health Application and Research Center, Health Sciences University, Sanlıurfa, Turkey., Demirtas M; Mikrogen Genetic Diagnosis Laboratory, Ankara, Turkey., Evren EU; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, University of Kyrenia, Kyrenia, Cyprus., Hanta A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey., Başdemirci M; Konya Training and Research Hospital, Genetic Diseases Evaluation Center, Health Sciences University, Konya, Turkey., Suer K; Department of Infectious Diseases and Clinicai Microbiology, Faculty of Medicine, Near East University, Nicosia, Cyprus., Balta B; Kayseri City Training and Research Hospital, Genetic Diseases Evaluation Center, Kayseri, Turkey., Kocak N; Department of Medical Genetics, Faculty of Medicine, Selcuk University, Konya, Turkey., Karabulut HG; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Cobanogulları H; DESAM Institute, Near East University, Nicosia, Cyprus., Ateş EA; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Bozdoğan ST; Medical Genetics Department of Medical Faculty, AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey., Eker D; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey., Ekinci S; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Nergiz S; Department of Medical Genetics, Faculty of Medicine, Selcuk University, Konya, Turkey., Tuncalı T; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Yagbasan S; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Alavanda C; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Kutlay NY; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Evren H; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, University of Kyrenia, Kyrenia, Cyprus., Erdoğan M; Kayseri City Training and Research Hospital, Genetic Diseases Evaluation Center, Kayseri, Turkey., Altıner S; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Sanlidag T; DESAM Institute, Near East University, Nicosia, Cyprus., Gonen GA; Kayseri City Training and Research Hospital, Genetic Diseases Evaluation Center, Kayseri, Turkey., Vicdan A; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Eras N; Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey., Eker HK; Konya Training and Research Hospital, Genetic Diseases Evaluation Center, Health Sciences University, Konya, Turkey., Balasar O; Konya Training and Research Hospital, Genetic Diseases Evaluation Center, Health Sciences University, Konya, Turkey., Tuncel G; DESAM Institute, Near East University, Nicosia, Cyprus., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Gurkan H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey., Temel SG; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.; Department of Medical Genetics, Health Sciences Institute, Baskent University, Ankara, Turkey.

المصدر: Journal of medical virology [J Med Virol] 2023 Feb; Vol. 95 (2), pp. e28457.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7705876 Publication Model: Print Cited Medium: Internet ISSN: 1096-9071 (Electronic) Linking ISSN: 01466615 NLM ISO Abbreviation: J Med Virol Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19* , Thrombophilia*/epidemiology , Thrombophilia*/genetics , Thrombosis*, Humans ; Male ; Female ; Prothrombin/genetics ; Risk Factors ; SARS-CoV-2 ; Genotype ; Factor V/genetics ; Patient Acuity ; Mutation

SCR Disease Name: Thrombophilia, hereditary

المؤلفون: Taşdelen E; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey ; Department of Medical Genetics, Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey., Özel Kızıl ET; Department of Psychiatry, Faculty of Medicine, Ankara University, Ankara, Turkey., Tezcan S; Department of Neurology, Faculty of Medicine, Ankara University, Ankara, Turkey ; Department of Neurology, Dr. Nafiz Körez Sincan State Hospital, Ankara, Turkey., Yalap E; Department of Neurology, Faculty of Medicine, Ankara University, Ankara, Turkey., Bingöl AP; Department of Neurology, Faculty of Medicine, Ankara University, Ankara, Turkey., Kutlay NY; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

المصدر: Turkish journal of medical sciences [Turk J Med Sci] 2022 Oct; Vol. 52 (5), pp. 1458-1467. Date of Electronic Publication: 2022 Oct 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Scientific and Technical Research Council of Turkey Country of Publication: Turkey NLM ID: 9441758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1303-6165 (Electronic) Linking ISSN: 13000144 NLM ISO Abbreviation: Turk J Med Sci Subsets: MEDLINE

مواضيع طبية MeSH: Exosomes*/genetics , Exosomes*/metabolism , Alzheimer Disease*/genetics , MicroRNAs*/genetics , MicroRNAs*/metabolism, Humans ; Inflammasomes/metabolism ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; NLR Family, Pyrin Domain-Containing 3 Protein/metabolism ; Neurons ; Biomarkers

المؤلفون: Taşdelen E; Department of Medical Genetics, Sanliurfa Education and Research Hospital, Şanlıurfa, Turkey.; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey., Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, University of Utah, Salt Lake, Utah, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Herman I; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Boys Town National Research Hospital, Boys Town, Nebraska, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Altıparmak T; Department of Neurology, Cankırı State Hospital, Cankırı, Turkey., Kutlay NY; Department of Medical Genetics, Sanliurfa Education and Research Hospital, Şanlıurfa, Turkey., Lupski JR; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2153-2161. Date of Electronic Publication: 2022 Mar 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Hereditary Sensory and Autonomic Neuropathies* , Intracellular Signaling Peptides and Proteins*/genetics , Membrane Proteins*/genetics , Osteomyelitis*/genetics , Renal Insufficiency*, Alleles ; Humans ; Pedigree

SCR Disease Name: Neuropathy, Hereditary Sensory And Autonomic, Type IIB

المؤلفون: 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; 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مؤلفون مشاركون: National Genetics Consortium Study

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100939343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-7948 (Electronic) Linking ISSN: 1438793X NLM ISO Abbreviation: Funct Integr Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Familial Mediterranean Fever*/epidemiology , Familial Mediterranean Fever*/genetics , Pyrin*/genetics, Genetics, Population ; Genotype ; Humans ; Mutation ; Phenotype ; Turkey/epidemiology

المؤلفون: Kalay Yildizhan I; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey, incilaykalay@gmail.com., Gökpınar İli E; Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey.; Genetic Diseases Center, Başakşehir Pine and Sakura City Hospital, Istanbul, Turkey., Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Kocyigit P; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey., Kesidou E; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Simpson MA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Kutlay NY; Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey., Kundakci N; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey.

المصدر: Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (9), pp. 523-530. Date of Electronic Publication: 2020 Nov 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Dermatitis/*genetics , Mixed Function Oxygenases/*genetics , Psoriasis/*genetics, Child ; Cholesterol/biosynthesis ; Cholesterol/blood ; Cholesterol/deficiency ; Cholesterol/therapeutic use ; Consanguinity ; Eye Diseases/genetics ; Female ; Genes, Recessive ; Growth Disorders/genetics ; Homozygote ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Intellectual Disability/genetics ; Male ; Mixed Function Oxygenases/deficiency ; Pedigree ; Rosuvastatin Calcium/therapeutic use ; Siblings ; Triglycerides/blood ; Turkey ; Exome Sequencing

المؤلفون: Kutlay NY; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey. nykutlay@medicine.ankara.edu.tr., Pekpak E; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Altıner S; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey., Ileri T; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Vicdan AN; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey., Dinçaslan H; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Ince EU; Ankara University School of Medicine, Pediatric Hematology and Oncology, Ankara, Turkey., Tukun FA; Ankara University School of Medicine, Medical Genetics, Ankara, Turkey.

المصدر: International journal of hematology [Int J Hematol] 2016 Sep; Vol. 104 (3), pp. 368-77. Date of Electronic Publication: 2016 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-3774 (Electronic) Linking ISSN: 09255710 NLM ISO Abbreviation: Int J Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Diploidy* , Gene Dosage*, Core Binding Factor Alpha 2 Subunit/*genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis , Proto-Oncogene Proteins c-ets/*genetics , Repressor Proteins/*genetics, Child ; Child, Preschool ; Humans ; In Situ Hybridization, Fluorescence ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prognosis ; ETS Translocation Variant 6 Protein

المؤلفون: Durmaz CD; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Yararbaş K, Kutlay NY, Türedi Ö, Akın İ, Gürbüz C, Karataş G, Tükün A

المصدر: Cytogenetic and genome research [Cytogenet Genome Res] 2016; Vol. 148 (1), pp. 19-24. Date of Electronic Publication: 2016 May 11.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/genetics ; Child, Preschool ; Chromosome Breakpoints ; Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 9/genetics ; Developmental Disabilities/genetics ; Humans ; INDEL Mutation/genetics ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Karyotype ; Male ; Syndrome ; Telomere/genetics

SCR Disease Name: Chromosome 9p Deletion Syndrome