المؤلفون: Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 15-24 (2022)

مصطلحات موضوعية: array-based comparative genomic hybridization (acgh), copy number variations (cnv), developmental delay, dysmorphic facial features, genotype-phenotype correlation, intellectual disability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/b4c8addd46594dddad739bcf0d55ca5e

المؤلفون: Kaygusuz SB, E Arslan Ates, Vignola ML, Volkan B, Geckinli BB, Turan S, Bereket A, Gaston-Massuet C, Guran T

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0afd3e9bb9b6a0e8faa940a176f51b92
https://doi.org/10.1530/ey.19.1.12

المؤلفون: Türkyılmaz, A, Geckinli, BB, Tekin, E, Ates, EA, Yarali, O, Cebi, AH, Arman, A

المصدر: Balkan Journal of Medical Genetics; 2021, Vol. 24 Issue 2, p15-24, 10p

مصطلحات موضوعية: COMPARATIVE genomic hybridization, INTELLECTUAL disabilities, DEVELOPMENTAL delay, GENOMICS, PHENOTYPES, COGNITIVE development

المؤلفون: Demir S; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Sevik MO; Department of Ophthalmology, School of Medicine,Marmara University, Istanbul, Turkey., Ersoy A; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Sahin O; Department of Ophthalmology, School of Medicine,Marmara University, Istanbul, Turkey., Arslan Ates E; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Istanbul, Turkey.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 113-119. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/pathology , Cataract*/diagnosis , Cataract*/genetics , Polyneuropathies*/diagnosis , Polyneuropathies*/genetics , Polyneuropathies*/pathology , Hearing Loss* , Ataxia*, Male ; Humans ; Adult ; Phenotype ; Mutation ; Syndrome ; Pedigree ; Monoacylglycerol Lipases/genetics

SCR Disease Name: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

المؤلفون: Arıcı S; Pediatric Cardiology, Kartal Kosuyolu Training and Research Hospital, Istanbul, Turkey., Akalın F; Pediatric Cardiology, Marmara University School of Medicine, Istanbul, Turkey., Geckinli BB; Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.

المصدر: Cardiology in the young [Cardiol Young] 2024 Mar 04, pp. 1-3. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

المؤلفون: Serey-Gaut M; Centre de génétique humaine, Université de Franche-Comté, Besançon, France. Electronic address: sereymargaux@gmail.com., Cortes M; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Sullivan JA; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asleh AN; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Mitra J; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA., Dar MA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., McNamara A; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Shashi V; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Dugan S; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Cabrol C; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France., Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; University Texas Health Science Center, Houston, TX 77030, USA., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Dibra HK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Byrd PJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey., Posey J; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Westman R; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Jungbluth C; Providence Medical Group Genetic Clinics, Spokane, WA, USA., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia., Evans CA; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia., Lemire G; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., VanNoy GE; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Mau-Them FT; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Juven A; UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Nixon CY; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia., Zhu Y; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Ha T; Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA., Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Thauvin C; INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France., Essien Umanah GK; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France; EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Dawson TM; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Antonarakis SE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 499-515. Date of Electronic Publication: 2023 Jan 31.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly* , Neurodevelopmental Disorders* , Movement Disorders*, Humans ; Intracellular Signaling Peptides and Proteins ; HEK293 Cells ; TOR Serine-Threonine Kinases

المؤلفون: Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetics Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Medical Genetic Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Almahroos MA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alharby E; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Almuntashri M; Department of Radiology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alshangiti AM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Clément P; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Qebibo L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, 1163, F-75015, Paris, France., Doco-Fenzy M; CHU Reims, SFR CAP Sante, EA3801, Reims, France and CHU de Nantes, service de génétique médicale, Nantes, France., Mastrangelo M; Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy., Torella A; Department of Precision Medicine, Università della Campania 'Luigi Vanvitelli' ,Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Manti F; Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy., Nigro V; Department of Precision Medicine, Università della Campania 'Luigi Vanvitelli' ,Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Alban Z; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Alharbi GS; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Hashmi JA; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Alraddadi R; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Alamri R; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Magalie B; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX., Geckinli BB; Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Romito A; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Karageorgou V; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Martini J; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Colin E; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Bonneau D; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Bertoli-Avella A; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX., Pastore A; Dementia Research Institute at King's College London, The Wohl Institute, 5 Cutcome Rd, London SE59RT, UK., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA., Dallol A; Noor Diagnostics and Discovery, Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia; College of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia. Electronic address: nmontashri@taibahu.edu.sa.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100323. Date of Electronic Publication: 2022 Nov 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Ubiquitin/genetics ; Ubiquitin-Protein Ligases/genetics ; Phenotype

المؤلفون: Duman N; Department of Medical Genetics, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey., Tuncel G; DESAM Research Institute, Near East University, Nicosia, Cyprus., Bisgin A; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.; AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey., Bozdogan ST; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.; AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Gul S; Department of Biology, Biotechnology Division, Faculty of Sciences, Istanbul University, Istanbul, Turkey., Kiraz A; Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey., Balta B; Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey., Erdogan M; Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey., Uyanik B; Department of Medical Genetics, Istanbul Bakırkoy Dr. Sadi Konuk Education and Research Hospital, Istanbul, Turkey., Canbek S; Department of Medical Genetics, Umraniye City Hospital, Istanbul, Turkey., Ata P; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Geckinli BB; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Arslan Ates E; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Alavanda C; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Yesim Ozdemir S; Department of Medical Genetics, Faculty of Medicine, Uskudar University, İstanbul, Turkey., Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Turkey., Ozgon GO; Nesiller Genetic Diagnosis Center, Istanbul, Turkey., Gurkan H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey., Guler K; Mikrogen Genetic Diagnostic Center, Ankara, Turkey., Boga I; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.; AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey., Kaya N; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Alemdar A; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Sayan M; DESAM Research Institute, Near East University, Nicosia, Cyprus.; PCR Unit, Kocaeli University Education and Research Hospital, Kocaeli, Turkey., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ergoren MC; DESAM Research Institute, Near East University, Nicosia, Cyprus.; Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus., Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.; Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.

المصدر: Journal of medical virology [J Med Virol] 2022 Nov; Vol. 94 (11), pp. 5225-5243. Date of Electronic Publication: 2022 Jul 22.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: COVID-19*/epidemiology , COVID-19*/genetics , SARS-CoV-2*/genetics, Angiotensin-Converting Enzyme 2/*metabolism, Angiotensin-Converting Enzyme 2/genetics ; Humans ; Peptidyl-Dipeptidase A/genetics ; Retrospective Studies ; Risk Factors ; Serine Endopeptidases/genetics ; Exome Sequencing

المؤلفون: Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University., Alavanda C; Department of Medical Genetics, School of Medicine, Marmara University., Arslan Ates E; Department of Medical Genetics, Marmara University Pendik Training and Research Hospital., Yildirim O; Department of Molecular Biology and Genetics, Institute of Science, Istanbul University, Istanbul, Turkey., Arman A; Department of Medical Genetics, School of Medicine, Marmara University.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2022 Jul 01; Vol. 31 (3), pp. 153-156. Date of Electronic Publication: 2022 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/etiology , Bone Diseases, Developmental* , Intellectual Disability*/complications , Tooth Abnormalities*/complications , Tooth Abnormalities*/diagnosis , Tooth Abnormalities*/genetics, Facies ; Humans ; Phenotype ; Repressor Proteins/genetics

SCR Disease Name: KBG syndrome

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.; 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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.

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