المؤلفون: Duojiao Xu, Yujiao Guo, Zhan Qi, Chanjuan Hao, Guoxia Yu

المصدر: Heliyon, Vol 9, Iss 10, Pp e20857- (2023)

مصطلحات موضوعية: Hutchinson-Gilford progeria syndrome, LMNA mutation, Congenital micrognathia, Dyspnea, Mandibular distraction osteogenesis, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023080659Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/82655a2649b74a139cbb86ef0de3e4cbTest

المؤلفون: Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva

المصدر: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

مصطلحات موضوعية: lamin A/C, LMNA mutation, cardiomyopathy, induced pluripotent stem cells, sodium ion channel, cell differentiation, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcvm.2022.932956/fullTest; https://doaj.org/toc/2297-055XTest

الوصول الحر: https://doaj.org/article/3edf762ce2d245b2b731911592edfc93Test

المؤلفون: Ceccarini, G, Gilio, D, Magno, S, Pelosini, C, Leverone, M, Miceli, C, Barison, A, Fabiani, I, Emdin, M, Santini, F

المساهمون: Ceccarini, G, Gilio, D, Magno, S, Pelosini, C, Leverone, M, Miceli, C, Barison, A, Fabiani, I, Emdin, M, Santini, F

مصطلحات موضوعية: Atypical progeroid syndrome, COVID-19, LMNA mutation, Lipodystrophy, Post-acute cardiac complication, SARS-CoV-2

العلاقة: volume:45; issue:8; firstpage:1569; lastpage:1575; numberofpages:7; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; https://hdl.handle.net/11382/558826Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127680992

الإتاحة: https://doi.org/10.1007/s40618-022-01795-6Test
https://hdl.handle.net/11382/558826Test

المؤلفون: Magno, Silvia, Ceccarini, Giovanni, Barison, Andrea, Fabiani, Iacopo, Giacomina, Alessandro, Gilio, Donatella, Pelosini, Caterina, Rubegni, Anna, Emdin, Michele, Gatti, Gian Luca, Santorelli, Filippo Maria, Sessa, Maria Rita, Santini, Ferruccio

المساهمون: Magno, Silvia, Ceccarini, Giovanni, Barison, Andrea, Fabiani, Iacopo, Giacomina, Alessandro, Gilio, Donatella, Pelosini, Caterina, Rubegni, Anna, Emdin, Michele, Gatti, Gian Luca, Santorelli, Filippo Maria, Sessa, Maria Rita, Santini, Ferruccio

مصطلحات موضوعية: FPLD2, LMNA mutation, familial partial lipodystrophy type 2, leptin, lipodystrophy

العلاقة: volume:10; issue:5; firstpage:1; lastpage:12; numberofpages:12; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11382/558847Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114074941

الإتاحة: https://doi.org/10.3390/jcm10051142Test
https://hdl.handle.net/11382/558847Test

المؤلفون: Silvia Magno, Giovanni Ceccarini, Andrea Barison, Iacopo Fabiani, Alessandro Giacomina, Donatella Gilio, Caterina Pelosini, Anna Rubegni, Michele Emdin, Gian Luca Gatti, Filippo Maria Santorelli, Maria Rita Sessa, Ferruccio Santini

المصدر: Journal of Clinical Medicine; Volume 10; Issue 5; Pages: 1142

مصطلحات موضوعية: lipodystrophy, familial partial lipodystrophy type 2, FPLD2, leptin, LMNA mutation

وصف الملف: application/pdf

العلاقة: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10051142Test

الإتاحة: https://doi.org/10.3390/jcm10051142Test

المؤلفون: Magno, S, Ceccarini, G, Pelosini, C, Ferrari, F, Prodam, F, Gilio, D, Maffei, M, Sessa, MR, Barison, A, Ciccarone, A, Emdin, M, Aimaretti, G, Santini, F

المساهمون: Magno, S, Ceccarini, G, Pelosini, C, Ferrari, F, Prodam, F, Gilio, D, Maffei, M, Sessa, Mr, Barison, A, Ciccarone, A, Emdin, M, Aimaretti, G, Santini, F

مصطلحات موضوعية: atypical progeroid syndrome, lipodystrophy, LMNA mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32913962; info:eu-repo/semantics/altIdentifier/wos/WOS:000577509200005; volume:4; issue:10; firstpage:bvaa108; journal:JOURNAL OF THE ENDOCRINE SOCIETY; http://hdl.handle.net/11579/118257Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096472639

الإتاحة: https://doi.org/10.1210/jendso/bvaa108Test
http://hdl.handle.net/11579/118257Test

المؤلفون: Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. Ploos, van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., Zijlmans, C. W. R.

المصدر: Hitzert , M M , van der Crabben , S N , Baldewsingh , G , van Amstel , H K P , van den Wijngaard , A , van Ravenswaaij-Arts , C M A & Zijlmans , C W R 2019 , ' Mandibuloacral dysplasia type B (MADB) : a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1) , clinical diagnostic criteria and management guidelines ' , Orphanet Journal of Rare Diseases , vol. 14 , no. 1 , 294 . https://doi.org/10.1186/s13023-019-1269-0Test

مصطلحات موضوعية: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, LMNA MUTATION, METALLOPROTEINASE, LIPODYSTROPHY, PROGERIA

الإتاحة: https://doi.org/10.1186/s13023-019-1269-0Test
https://cris.maastrichtuniversity.nl/en/publications/0d53ef10-efba-43ed-830e-0ed963afb571Test

المؤلفون: Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva

مصطلحات موضوعية: Cardiology, Cardiology (incl. Cardiovascular Diseases), Cardiorespiratory Medicine and Haematology not elsewhere classified, lamin A/C, LMNA mutation, cardiomyopathy, induced pluripotent stem cells, sodium ion channel, cell differentiation

العلاقة: https://figshare.com/articles/dataset/Table_1_LMNA_mutation_leads_to_cardiac_sodium_channel_dysfunction_in_the_Emery-Dreifuss_muscular_dystrophy_patient_docx/20358225Test

الإتاحة: https://doi.org/10.3389/fcvm.2022.932956.s001Test
https://figshare.com/articles/dataset/Table_1_LMNA_mutation_leads_to_cardiac_sodium_channel_dysfunction_in_the_Emery-Dreifuss_muscular_dystrophy_patient_docx/20358225Test

المؤلفون: Maria Rita Sessa, Gian Luca Gatti, Anna Rubegni, Giovanni Ceccarini, Ferruccio Santini, Silvia Magno, Andrea Barison, Iacopo Fabiani, Caterina Pelosini, Michele Emdin, Donatella Gilio, Alessandro Giacomina, Filippo M. Santorelli

المصدر: Journal of Clinical Medicine
Volume 10
Issue 5
Journal of Clinical Medicine, Vol 10, Iss 1142, p 1142 (2021)

مصطلحات موضوعية: Familial partial lipodystrophy type 2, FPLD2, Leptin, Lipodystrophy, LMNA mutation, lipodystrophy, lcsh:Medicine, 030204 cardiovascular system & hematology, Gene mutation, leptin, Article, LMNA, 03 medical and health sciences, 0302 clinical medicine, Medicine, Missense mutation, Allele, Allele frequency, familial partial lipodystrophy type 2, 030304 developmental biology, Genetics, 0303 health sciences, integumentary system, business.industry, lcsh:R, Partial Lipodystrophy, General Medicine, medicine.disease, Penetrance, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4a11a6f61072342f0d3e2ada85dcd9Test
http://europepmc.org/articles/PMC7963176Test

المؤلفون: Khushal B Jadhav, Kedarnath K Karpe, Boby V Maramattom

المصدر: Annals of Indian Academy of Neurology, Vol 15, Iss 4, Pp 344-346 (2012)

مصطلحات موضوعية: Calcified AV node, cardiac conduction system calcification, cardiomyopathy, EDMD, familial DCM, LMNA mutation, myopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=344;epage=346;aulast=JadhavTest; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test

الوصول الحر: https://doaj.org/article/2fedd813d070480586ab68131b1b4af5Test