المؤلفون: Atallah, I., McCormick, D., Good, J.M., Barigou, M., Fraga, M., Sempoux, C., Superti-Furga, A., Semple, R.K., Tran, C.

المصدر: Journal of clinical lipidology, vol. 16, no. 5, pp. 583-590

مصطلحات موضوعية: Female, Humans, Adult, Werner Syndrome/diagnosis, Werner Syndrome/genetics, Werner Syndrome/complications, Werner Syndrome Helicase/genetics, Werner Syndrome Helicase/metabolism, RecQ Helicases/genetics, RecQ Helicases/metabolism, Exodeoxyribonucleases/genetics, Exodeoxyribonucleases/metabolism, Lipodystrophy, Diabetes Mellitus/diagnosis, Diabetes Mellitus/genetics, Insulin Resistance/genetics, Dyslipidemias/complications, Dyslipidemias/diagnosis, Dyslipidemias/genetics, Insulins/metabolism, Diabetes, Dyslipidaemia, Exome, Helicase, Liver steatosis, Partial lipodystrophy, Werner syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35780059; info:eu-repo/semantics/altIdentifier/pissn/1933-2874; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E5FCC361A2476; https://serval.unil.ch/notice/serval:BIB_E5FCC361A247Test; urn:issn:1876-4789; https://serval.unil.ch/resource/serval:BIB_E5FCC361A247.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5FCC361A2476Test

الإتاحة: https://doi.org/10.1016/j.jacl.2022.06.004Test
https://serval.unil.ch/notice/serval:BIB_E5FCC361A247Test
https://serval.unil.ch/resource/serval:BIB_E5FCC361A247.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5FCC361A2476Test

المؤلفون: Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga, Christine Sempoux, Andrea Superti-Furga, Robert K. Semple, Christel Tran

المصدر: Atallah, I, McCormick, D, Good, J-M, Barigou, M, Fraga, M, Sempoux, C, Superti-Furga, A, Semple, R K & Tran, C 2022, ' Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome ', Journal of clinical lipidology . https://doi.org/10.1016/j.jacl.2022.06.004Test
Journal of clinical lipidology, vol. 16, no. 5, pp. 583-590

مصطلحات موضوعية: Adult, Werner syndrome, Nutrition and Dietetics, Werner Syndrome Helicase, dyslipidaemia, RecQ Helicases, Lipodystrophy, diabetes, Endocrinology, Diabetes and Metabolism, Insulins, WRN, partial lipodystrophy, liver steatosis, helicase, Exodeoxyribonucleases, Internal Medicine, Diabetes Mellitus, Humans, Female, Exome, Werner Syndrome, Insulin Resistance, Cardiology and Cardiovascular Medicine, Dyslipidemias, Werner Syndrome/diagnosis, Werner Syndrome/genetics, Werner Syndrome/complications, Werner Syndrome Helicase/genetics, Werner Syndrome Helicase/metabolism, RecQ Helicases/genetics, RecQ Helicases/metabolism, Exodeoxyribonucleases/genetics, Exodeoxyribonucleases/metabolism, Diabetes Mellitus/diagnosis, Diabetes Mellitus/genetics, Insulin Resistance/genetics, Dyslipidemias/complications, Dyslipidemias/diagnosis, Dyslipidemias/genetics, Insulins/metabolism, Diabetes, Dyslipidaemia, Helicase, Liver steatosis, Partial lipodystrophy

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::513c014e12b40e46dff95666ae05afe3Test
https://www.pure.ed.ac.uk/ws/files/282649096/053022_Atallah.R1_clean.docxTest

المؤلفون: Victoria J Bartlett, Eunju Hurh, Elif Arioglu Oral, Adam H. Neidert, Ewa Karwatowska-Prokopczuk, Baris Akinci, Maria C Foss-Freitas

المصدر: Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-12 (2021)
Lipids in Health and Disease

مصطلحات موضوعية: Adult, Male, Angiopoietin-like protein 3, RC620-627, Familial partial lipodystrophy, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mixed meal test, Bioinformatics, Proof of Concept Study, Angiopoietin, Endocrinology, ANGPTL3, Humans, Medicine, Nutritional diseases. Deficiency diseases, Triglycerides, Hypolipidemic Agents, business.industry, Research, Biochemistry (medical), Middle Aged, medicine.disease, Lipodystrophy, Familial Partial, Lipoproteins, LDL, Vupanorsen, Proof of concept, Female, Adipose tissue insulin resistance, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c02b87ec1f624c5136d88267c15fe1eTest
https://doaj.org/article/50ffdd79d6e14f6093c4b51acb7bcb51Test

المؤلفون: Altay, Canan, Seçil, Mustafa, Demir, Tevfik, Atik, Tahir, Akıncı, Gülçin, Kutbay, Nilüfer Özdemir, Temeloğlu, Ela Keskin, Şimşir, Ilgin Yıldırım, Özışık, Seçil, Demir, Leyla, Tuna, Emine Burçin, Aytaç, Hasibe, Onay, Hüseyin, Akıncı, Barış

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., orcid:0000-0002-1684-1053, Eren, Erdal, AAM-1734-2020, AAH-1155-2021, 36113153400

مصطلحات موضوعية: Radiology, nuclear medicine & medical imaging, Congenital generalized lipodystrophy, Familial partial lipodystrophy, Severe insulin-resistance, Body-fat distribution, Gene-expression, Regional differences, Ptrf mutationsi, Identification, Heterogeneity, Deficiency, Adipose tissue, Adolescent, Adult, Child, Diagnosis, differential, Female, Humans, Lipodystrophy, Magnetic resonance imaging, Male, Middle aged, Whole body Imaging, Young adult, Metreleptin, Acquired Partial Lipodystrophy, Caveolin 1, Creatinine

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Diagnostic and Interventional Radiology; Yurt içi; Sanayi; Altay, C. vd. (2017). ''Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy''. Diagnostic and Interventional Radiology, 23(6), 428-434.; https://doi.org/10.5152/dir.2017.17019Test; https://www.dirjournal.org/en/determining-residual-adipose-tissue-characteristics-with-mri-in-patients-with-various-subtypes-ofTest-lipodystrophy-131769; http://hdl.handle.net/11452/30424Test; 000414273500004; 2-s2.0-85032956287; 428; 434; 23

الإتاحة: https://doi.org/10.5152/dir.2017.17019Test
http://hdl.handle.net/11452/30424Test
https://www.dirjournal.org/en/determining-residual-adipose-tissue-characteristics-with-mri-in-patients-with-various-subtypes-ofTest-lipodystrophy-131769

المؤلفون: Vinaya Simha, John D. Port, Claudio Cobelli, Ivan Vuckovic, Katherine A. Klaus, Ian R. Lanza, Nathan Le Brasseur, Surendra Dasari, K. Sreekumaran Nair, Marcello C. Laurenti

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biology, Mitochondrion, Biochemistry, Muscle hypertrophy, Young Adult, Absorptiometry, Photon, Endocrinology, Insulin resistance, Internal medicine, medicine, Humans, Muscle Strength, Muscle, Skeletal, Clinical Research Articles, Aged, Catabolism, Gene Expression Profiling, Biochemistry (medical), Skeletal muscle, Middle Aged, medicine.disease, Familial partial lipodystrophy, Lipodystrophy, Familial Partial, Mitochondria, Muscle, medicine.anatomical_structure, Mitochondrial biogenesis, Proteolysis, Physical Endurance, Female, Lipodystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c26ac528ae3793dffc68316265e60fTest
https://doi.org/10.1210/clinem/dgab725Test

المؤلفون: Baris Akinci, Omer A. Ali, Rebecca J. Brown, Elif A. Oral, Deepshekhar Gupta, Maria Cristina Foss de Freitas, Kai-Jye Lou, Keziah Cook, Renan Magalhães Montenegro, Edward Tuttle, Virgínia Oliveira Fernandes

المصدر: The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Adult, Leptin, Male, medicine.medical_specialty, lipodystrophy, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Biochemistry, Cohort Studies, Young Adult, 03 medical and health sciences, Metreleptin, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Lipodystrophy, Congenital Generalized, Internal medicine, medicine, Risk of mortality, Humans, CGL, Online Only Articles, Child, Clinical Research Articles, 030304 developmental biology, 0303 health sciences, Proportional hazards model, business.industry, hepatic steatosis, Generalized lipodystrophy, Biochemistry (medical), Partial Lipodystrophy, Hazard ratio, medicine.disease, Survival Rate, Treatment Outcome, chemistry, metreleptin, Cohort, FPLD, Female, Lipodystrophy, business, AcademicSubjects/MED00250

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e0325ea6542bcd2f7ca7229f73fe8cTest
https://doi.org/10.1210/clinem/dgab216Test

المؤلفون: Onay, H., Akinci, B., Demir, T., Savas-Erdeve, Åž., Gen, R., Simsir, I.Y., Keskin, F.E.

مصطلحات موضوعية: Insulin resistance, peroxisome proliferator activated receptor gamma coactivator 1alpha, cardiovascular disease, Diabetes, Lipodystrophy, LMNA, PPARG, fat, high density lipoprotein cholesterol, leptin, lamin A, lamin B, lamin B1, LMNA protein, human, peroxisome proliferator activated receptor gamma, acute pancreatitis, adult, Article, clinical feature, codon, controlled clinical trial, controlled study, exon, familial partial lipodystrophy, female, gene, genetic screening, genetic variability, heart infarction

العلاقة: Metabolism: Clinical and Experimental; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/8998Test; https://doi.org/10.1016/j.metabol.2017.04.010Test; 72; 109; 119; 2-s2.0-85018455891; WOS:000404316600012

الإتاحة: https://doi.org/10.1016/j.metabol.2017.04.010Test
https://hdl.handle.net/11499/8998Test

المؤلفون: Leyla Demir, Ilgin Yildirim Simsir, Suleyman Cem Adiyaman, Ramazan Gen, Erdal Eren, Basak Ozgen Saydam, Hüseyin Onay, Haluk Topaloglu, Nilufer Ozdemir Kutbay, Gulcin Akinci, Baris Akinci, Banu Sarer Yurekli, Mustafa Secil, Ela Keskin, Tevfik Demir, Canan Altay

المساهمون: Ege Üniversitesi

المصدر: Turk J Gastroenterol

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Adolescent, Lipodystrophy, Severity of Illness Index, Gastroenterology, Young Adult, Magnetic resonance imaging, Insulin resistance, Internal medicine, medicine, Humans, In patient, business.industry, Generalized lipodystrophy, Partial Lipodystrophy, Metabolic disorder, Reproducibility of Results, medicine.disease, Fatty Liver, Adipose Tissue, Liver, Female, Original Article, Subcutaneous adipose tissue, Steatosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655e97de9a2049a4780819e35e326e27Test
https://doi.org/10.5152/tjg.2020.19114Test

المؤلفون: Jun Ito-Kobayashi, Choka Azuma, Yuji Tezuka, Mayumi Morimoto, Masanori Iwanishi, Toru Kusakabe, Ken Ebihara, Yukako Yamamoto, Miki Washiyama

المصدر: Diabetes Research and Clinical Practice. 152:79-87

مصطلحات موضوعية: Adult, Heterozygote, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, 030209 endocrinology & metabolism, Nuclear Family, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin resistance, Antigens, CD, Internal medicine, Internal Medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Metabolic Syndrome, biology, business.industry, Leptin, Partial Lipodystrophy, General Medicine, Middle Aged, medicine.disease, Familial partial lipodystrophy, Polycystic ovary, Receptor, Insulin, Lipodystrophy, Familial Partial, Pedigree, Insulin receptor, Phenotype, Case-Control Studies, biology.protein, Female, Insulin Resistance, Lipodystrophy, business, Polycystic Ovary Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b73873b56cafb381e3cd0a7e08bd500Test
https://doi.org/10.1016/j.diabres.2019.04.034Test

المؤلفون: Noemi Malandrino, Baris Akinci, Elif A. Oral, Rasimcan Meral, Benjamin J. Ryan, Adam H. Neidert, Abdelwahab Jalal, Rebecca J. Brown, Jeffrey F. Horowitz, Ranganath Muniyappa

المصدر: Diabetes Care

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Research design, Pediatrics, medicine.medical_specialty, Adolescent, Lipodystrophy, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Acquired Partial Lipodystrophy, Young Adult, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Young adult, Aged, Retrospective Studies, Advanced and Specialized Nursing, business.industry, Generalized lipodystrophy, Retrospective cohort study, Syndrome, Middle Aged, medicine.disease, Familial partial lipodystrophy, Novel Communications in Diabetes, 030104 developmental biology, Adipose Tissue, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85fa643dbbf042a5a5b2811369bac50fTest
https://doi.org/10.2337/dc18-0978Test