A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Autor: Fernández-Pombo A; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Yildirim Simsir I; Division of Endocrinology and Metabolism Disorders, Department of Internal Medicine, Ege University Medical Faculty, Izmir, Turkey., Sánchez-Iglesias S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain., Ozen S; Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, İzmir, Turkey., Castro AI; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain.; CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Madrid, Spain., Atik T; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Loidi L; Galician Public Foundation for Genomic Medicine (SERGAS-Xunta de Galicia), Santiago de Compostela, Spain., Onay H; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Prado-Moraña T; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Adiyaman C; Division of Endocrinology and Metabolism, Department of Medicine, Dokuz Eylul University, Izmir, Turkey., Díaz-López EJ; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Altay C; Department of Radiology, Medical Faculty, Dokuz Eylul University, Izmir, Turkey., Ginzo-Villamayor MJ; Department of Estatística, Análise Matemática e Optimización, University of Santiago de Compostela, Santiago de Compostela, Spain., Akinci B; Division of Endocrinology and Metabolism, Department of Medicine, Dokuz Eylul University, Izmir, Turkey., Araújo-Vilar D; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain.

Publikováno v: Diabetes, obesity & metabolism [Diabetes Obes Metab] 2024 Nov; Vol. 26 (11), pp. 4875-4886. Date of Electronic Publication: 2024 Aug 22.

Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

Autor: Tanriverdi S, Polat M, Onay H

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 25-31 (2022)

Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFTR gene in neo

Externí odkaz: https://doaj.org/article/f8d59fede260450eac384a6422cb3ad4

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Autor: Özen S; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Gökşen D; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Evin F; Bakırçay University, Çiğli Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey, Işık E; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Onay H; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Akgün B; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Ata A; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Atik T; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Düzcan F; Tınaztepe University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Özkınay F; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Darcan Ş; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Çoğulu Ö; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey

Publikováno v: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Dec 04; Vol. 16 (4), pp. 431-442. Date of Electronic Publication: 2024 Jun 03.

Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.

Autor: Korkmaz İ; Ege University Faculty of Medicine, Department of Ophthalmology, İzmir, Türkiye., Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatric Metabolism, İzmir, Türkiye., Onay H; Multigen Genetic Diseases Diagnosis Center, İzmir, Türkiye., Yıldırım Sözmen E; Ege University Faculty of Medicine, Department of Medical Biochemistry, İzmir, Türkiye., Çoker M; Ege University Faculty of Medicine, Department of Pediatric Metabolism, İzmir, Türkiye., Palamar M; Ege University Faculty of Medicine, Department of Ophthalmology, İzmir, Türkiye.

Publikováno v: Turkish journal of ophthalmology [Turk J Ophthalmol] 2024 Jun 28; Vol. 54 (3), pp. 127-132.

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Autor: Silva SME; GEDORAC/DCC/SBC-Study Group on Rare Diseases with Cardiac Impairment from Brazilian Society of Cardiology, Hospital de Base do Distrito Federal (HBDF), Brasilia, Brazil., Chaves AVF; Cardiology Department, Hospital Agamenon Magalhães, Recife, Brazil.; RARUS, Referral Service for Rare Disease, Recife, Brazil.; Medicine Department, Mauricio de Nassau University Center UNINASSAU, Recife, Brazil., Antunes M; The Heart Institute, InCor, University of São Paulo Medical School, São Paulo, Brazil.; Cardiology Department, São Francisco University (USF), Bragança Paulista, São Paulo, Brazil., Costabel JP; Coronary Care Unit, Cardiovascular Institute of Buenos Aires, Buenos Aires, Argentina., da Fonseca AA; DLE Laboratory, Institute Hermes Pardini S.A., Rio de Janeiro, Brazil., Furtado A; Sanofi, Global Medical Affairs-Rare Disease, Sao Paulo, Brazil., Gomez-Mesa JE; Cardiology Department, Hospital Fundacion Valle del Lili, Cali, Colombia.; Medicine Department, Icesi University, Cali, Colombia., Gutiérrez FJM; Mexican Social Security Institute, General Hospital of Zona 1, San Luis Potosi, Mexico., Caspi O; Heart Failure Unit, Cardiology Department, Rambam Health Care Campus and the B. Rapport Faculty of Medicine, Technion, Israel., Maksimova I; Sanofi, Global Medical Affairs-Rare Disease, Moscow, Russia., Maski M; Sanofi, Global Medical Affairs-Rare Disease, Cambridge, MA, USA., Micheletti C; DLE Laboratory, Institute Hermes Pardini S.A., São Paulo, Brazil., Pena JLB; Faculty of Medical Sciences of Minas Gerais, Belo Horizonte, MG, Brazil.; Echocardiography Department, Hospital Felício Rocho, Belo Horizonte, MG, Brazil., Ribeiro MG; DLE Laboratory, Fleury Group, Rio de Janeiro, Brazil., Rodríguez-González MJ; Heart Failure Department, Cardioinfantil Foundation, Cardiac Institute, Bogota, Colombia., Tufekcioglu O; Department of Cardiology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Onay H; Multigen Genetic Diseases Diagnosis Center, Izmir, Turkey.; Gene2Info Health Informatics, Istanbul, Turkey.

Publikováno v: Cardiovascular diagnosis and therapy [Cardiovasc Diagn Ther] 2024 Apr 30; Vol. 14 (2), pp. 294-303. Date of Electronic Publication: 2024 Mar 18.