المؤلفون: Demir, Tevfik, Simsir, Ilgin Yildirim, Tuncel, Ozlem Kuman, Ozbaran, Burcu, Yildirim, Ilker, Pirildar, Sebnem, Ozen, Samim, Akinci, Baris

المساهمون: Amryt Pharma

المصدر: Orphanet Journal of Rare Diseases ; volume 19, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-03004-wTest

المؤلفون: Mancioppi, Valentina, Daffara, Tommaso, Romanisio, Martina, Ceccarini, Giovanni, Pelosini, Caterina, Santini, Ferruccio, Bellone, Simonetta, Mellone, Simona, Baricich, Alessio, Rabbone, Ivana, Aimaretti, Gianluca, Akinci, Baris, Giordano, Mara, Prodam, Flavia

المساهمون: Mancioppi, Valentina, Daffara, Tommaso, Romanisio, Martina, Ceccarini, Giovanni, Pelosini, Caterina, Santini, Ferruccio, Bellone, Simonetta, Mellone, Simona, Baricich, Alessio, Rabbone, Ivana, Aimaretti, Gianluca, Akinci, Bari, Giordano, Mara, Prodam, Flavia

مصطلحات موضوعية: CGL4, PTRF, adipose tissue, leptin, lipodystrophy, muscular dystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37501786; info:eu-repo/semantics/altIdentifier/wos/WOS:001035609700001; volume:14; firstpage:1212729; journal:FRONTIERS IN ENDOCRINOLOGY; https://hdl.handle.net/11579/161002Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85166025668

الإتاحة: https://doi.org/10.3389/fendo.2023.1212729Test
https://hdl.handle.net/11579/161002Test

المؤلفون: Yıldırım Şimşir, Ilgın, Soyaltın, Utku Erdem, Çetinkalp, Şevki, Akıncı, Barış

مصطلحات موضوعية: lipodystrophy, İnsulin treatment, concentrated insulins.[İnsulin tedavisi, lipodistrofi, konsantre insülinler

العلاقة: Ege Tıp Dergisi; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90626Test; https://search.trdizin.gov.tr/yayin/detay/1159005Test; 62; 164; 168

الإتاحة: https://hdl.handle.net/11454/90626Test
https://search.trdizin.gov.tr/yayin/detay/1159005Test

المؤلفون: Özbek, Mehmet Nuri, Yildirim Simsir, Ilgin, Tuysuz, Beyhan, Tanrikulu, Seher, Celik Guler, Merve, Akinci, Baris

مصطلحات موضوعية: generalized lipodystrophy, metabolic disease, mortality, organ complications

وصف الملف: application/pdf

العلاقة: Diabetes, Obesity and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Yildirim Simsir, I., Tuysuz, B., Ozbek, M. N., Tanrikulu, S., Celik Guler, M., Karhan, A. N., . & Akinci, B. (2023). Clinical features of generalized lipodystrophy in Turkey: A cohort analysis. Diabetes, Obesity and Metabolism, 25(7), 1950-1963.; https://doi.org/10.1111/dom.15061Test; https://www.scopus.com/record/display.uri?eid=2-s2.0-85152786989&origin=resultslist&sort=plf-f&src=s&sid=e6ffd6956e9981255ba20ae83e3a4e9a&sot=b&sdt=b&s=DOI%2810.1111%2Fdom.15061%29&sl=22&sessionSearchId=e6ffd6956e9981255ba20ae83e3a4e9aTest; https://pubmed.ncbi.nlm.nih.gov/36946378/#full-view-affiliation-1Test; https://hdl.handle.net/20.500.12514/3546Test; 25; 1950; 1963

الإتاحة: https://doi.org/20.500.12514/3546Test
https://doi.org/10.1111/dom.15061Test
https://hdl.handle.net/20.500.12514/3546Test
https://pubmed.ncbi.nlm.nih.gov/36946378/#full-view-affiliation-1Test

المؤلفون: Yildirim Simsir, Ilgin, Tuysuz, Beyhan, Ozbek, Mehmet Nuri, Tanrikulu, Seher, Celik Guler, Merve, Karhan, Asuman Nur, Denkboy Ongen, Yasemin, Gunes, Nilay, Soyaltin, Utku Erdem, Altay, Canan, Nur, Banu, Ozalkak, Servan, Akgun Dogan, Ozlem, Dursun, Fatma, Pekkolay, Zafer, Eren, Mehmet Ali, Usta, Yusuf, Ozisik, Secil, Ozgen Saydam, Basak, Adiyaman, Suleyman Cem, Unal, Mehmet Cagri, Gungor Semiz, Gokcen, Turan, Ihsan, Eren, Erdal, Kayserili, Hulya, Jeru, Isabelle, Vigouroux, Corinne, Atik, Tahir, Onay, Huseyin, Ozen, Samim, Arioglu Oral, Elif, Akinci, Baris

المصدر: Diabetes, Obesity and Metabolism ; volume 25, issue 7, page 1950-1963 ; ISSN 1462-8902 1463-1326

الإتاحة: https://doi.org/10.1111/dom.15061Test

المؤلفون: Akinci, Gulcin, Alyaarubi, Saif, Patni, Nivedita, Alhashmi, Nadia, Al‐Shidhani, Azza, Prodam, Flavia, Gagne, Nancy, Babalola, Funmbi, Al Senani, Aisha, Muniraj, Kavitha, Elsayed, Solaf M., Beghini, Marianna, Saydam, Basak Ozgen, Allawati, Moosa, Vaishnav, Madhumati S., Can, Ender, Simsir, Ilgin Y., Sorkina, Ekaterina, Dursun, Fatma, Kamrath, Clemens, Cavdar, Umit, Chakraborty, Partha P., Dogan, Ozlem Akgun, Al Hosin, Aliya, Al Maimani, Ashwaq, Comunoglu, Nil, Hamed, Ahmed, Huseinbegovic, Tea, Scherer, Thomas, Curtis, Jacqueline, Brown, Rebecca J., Topaloglu, Haluk, Simha, Vinaya, Wabitsch, Martin, Tuysuz, Beyhan, Oral, Elif A., Akinci, Baris, Garg, Abhimanyu

المساهمون: National Institutes of Health, Southwestern Medical Foundation

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 6 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63533Test

المؤلفون: Ceccarini, Giovanni, Akinci, Baris, Araujo-Vilar, David, Beghini, Marianna, Brown, Rebecca J., Tudela, Juan Carrion, Corradin, Valeria, Donadille, Bruno, Ruiz, Jose Jerez, Jeru, Isabelle, Lattanzi, Giovanna, Maffei, Margherita, McIlroy, George David, Nobécourt, Estelle, Perez de Tudela, Naca, Rochford, Justin, Sanders, Rebecca, Schnurbein, Julia von, Tews, Daniel, Vantyghem, Marie-Christine, Vatier, Camille, Vigouroux, Corinne, Santini, Ferruccio

المصدر: Annales d'Endocrinologie ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ando.2024.03.002Test
https://api.elsevier.com/content/article/PII:S0003426624000362?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426624000362?httpAccept=text/plainTest

المؤلفون: Fourman, Lindsay, Lima, Josivan, Simha, Vinaya, Cappa, Marco, Alyaarubi, Saif, Montenegro, Jr Renan, Akinci, Baris, Santini, Ferruccio

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الإتاحة: https://doi.org/10.1530/endoabs.99.ep1212Test
http://www.endocrine-abstracts.org/ea/0099/ea0099EP1212Test

المؤلفون: Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema, Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget, E, Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle

المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Dokuz Eylül Üniversitesi = Dokuz Eylül University Izmir (DEÜ), Ege university, St George's, University of London, Structure Fédérative de Recherche Necker (UAR 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut Cochin Département Endocrinologie, métabolisme, diabète (EMD) (EMD), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL), CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), ANR-21-CE17-0002,DELFAT,Sauver les greffons hépatiques stéatosiques en modulant l'activité de la nécroptose(2021)

المصدر: ISSN: 1741-7015.

مصطلحات موضوعية: ADRA2A, AGPAT2, AIRE, AKT2, BANF1, BLM, BSCL2, CAV1, CAVIN1, CIDEC, DYRK1B, TP, Thymidine phosphorylase, Lipodystrophy, Insulin resistance, Mutation, Adipose stem cell, CRISPR-Cas9, Mitochondria, Oxidative stress, Diabetes, Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35341481; hal-03873802; https://hal.science/hal-03873802Test; https://hal.science/hal-03873802/documentTest; https://hal.science/hal-03873802/file/Gautheron%20et%20al%20BMC%20Medicine%202022.pdfTest; PUBMED: 35341481; PUBMEDCENTRAL: PMC8958798

الإتاحة: https://doi.org/10.1186/s12916-022-02296-2Test
https://hal.science/hal-03873802Test
https://hal.science/hal-03873802/documentTest
https://hal.science/hal-03873802/file/Gautheron%20et%20al%20BMC%20Medicine%202022.pdfTest

المؤلفون: Mosbah, Héléna, Akinci, Baris, Araújo-Vilar, David, Carrion Tudela, Juan, Ceccarini, Giovanni, Collas, Philippe, Farooqi, I. Sadaf, Fernández-Pombo, Antía, Jéru, Isabelle, Karpe, Fredrik, Krause, Kerstin, Maffei, Margherita, Miehle, Konstanze, Oral, Elif, Perez de Tudela, Naca, Prieur, Xavier, Rochford, Justin, Sanders, Rebecca, Santini, Ferruccio, Savage, David, B, von Schnurbein, Julia, Semple, Robert, Stears, Anna, Sorkina, Ekaterina, Vantyghem, Marie-Christine, Vatier, Camille, Vidal-Puig, Antonio, Vigouroux, Corinne, Wabitsch, Martin

المساهمون: Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)

المصدر: ISSN: 0003-4266.

مصطلحات موضوعية: lipodystrophy syndrome, fatty acids, caveolin-1, therapeutic education, EPHX1, seipin, registry, metreleptin, fatty acid, [SDV]Life Sciences [q-bio]

العلاقة: hal-03944016; https://hal.sorbonne-universite.fr/hal-03944016Test; https://hal.sorbonne-universite.fr/hal-03944016/documentTest; https://hal.sorbonne-universite.fr/hal-03944016/file/2022%20Ann%20Endocrinol%20Mosbah%20et%20al%20proceedings%20of%20ECLip%20meeting%20vf.pdfTest

الإتاحة: https://doi.org/10.1016/j.ando.2022.07.674Test
https://hal.sorbonne-universite.fr/hal-03944016Test
https://hal.sorbonne-universite.fr/hal-03944016/documentTest
https://hal.sorbonne-universite.fr/hal-03944016/file/2022%20Ann%20Endocrinol%20Mosbah%20et%20al%20proceedings%20of%20ECLip%20meeting%20vf.pdfTest