المؤلفون: Steagall, Wendy K, Pacheco-Rodriguez, Gustavo, Darling, Thomas N, Torre, Olga, Harari, Sergio, Moss, Joel

المساهمون: W.K. Steagall, G. Pacheco-Rodriguez, T.N. Darling, O. Torre, S. Harari, J. Moss

مصطلحات موضوعية: TSC2, loss of heterozygosity, lymphangioleiomyomatosi, tuberous sclerosi, Female, Gene Expression Regulation, Neoplastic, Human, Lung Neoplasm, Mutation, Skin, Tumor Cells, Cultured, Settore MED/11 - Malattie dell'Apparato Cardiovascolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29406787; info:eu-repo/semantics/altIdentifier/wos/WOS:000433972100005; volume:58; issue:6; firstpage:678; lastpage:683; numberofpages:6; journal:AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY; http://hdl.handle.net/2434/748541Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048227924

الإتاحة: https://doi.org/10.1165/rcmb.2017-0403TRTest
http://hdl.handle.net/2434/748541Test

المؤلفون: Peron A., Au K. S., Northrup H.

المساهمون: A. Peron, K.S. Au, H. Northrup

مصطلحات موضوعية: genetic counseling, genetics of TSC, genotype–phenotype correlation, TSC1, TSC2, tuberous sclerosis complex (TSC), Genetic Association Studie, Genetic Testing, Human, Mosaicism, Mutation, Pedigree, Precision Medicine, TOR Serine-Threonine Kinase, Tuberous Sclerosi, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30255984; info:eu-repo/semantics/altIdentifier/wos/WOS:000448788500003; volume:178; issue:3; firstpage:281; lastpage:290; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/2434/760064Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053903775

الإتاحة: https://doi.org/10.1002/ajmg.c.31651Test
http://hdl.handle.net/2434/760064Test

المؤلفون: ALESI, NICOLA

المساهمون: Alesi, Nicola, PROCOPIO, Antonio Domenico

مصطلحات موضوعية: tuberous Sclerosi, TSC2, osteoclast, bone lesion, CTHRC1, Settore MED/04 - Patologia Generale

العلاقة: http://hdl.handle.net/11566/245595Test

الإتاحة: http://hdl.handle.net/11566/245595Test

المؤلفون: Paola Contini, Marco Barberis, Alberto Cavazza, Valerio Di Scioscio, Robin M. T. Cooke, Mario Schiavina, Walter F. Grigioni, Andrea Fabiani, Alessandro Bini, Antonia D’Errico-Grigioni, Annalisa Altimari

المساهمون: Schiavina, Mario, Di Scioscio, Valerio, Contini, Paola, Cavazza, Alberto, Fabiani, Andrea, Barberis, Marco, Bini, Alessandro, Altimari, Annalisa, Cooke, Robin M., Grigioni, Franco, D'Errico, Antonietta

مصطلحات موضوعية: Adult, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Histopathology, Loss of Heterozygosity, Sex Factor, Critical Care and Intensive Care Medicine, Tuberous Sclerosis Complex 1 Protein, Neoplasm Protein, Tuberous sclerosis, Germline mutation, Sex Factors, Tuberous Sclerosis, Antigens, Neoplasm, Lymphangioleiomyomatosi, Intensive care, hemic and lymphatic diseases, Progesterone receptor, Tuberous Sclerosis Complex 2 Protein, medicine, Humans, Lymphangioleiomyomatosis, Tumor Suppressor Protein, business.industry, Tumor Suppressor Proteins, Pneumothorax, medicine.disease, Immunohistochemistry, Neoplasm Proteins, medicine.anatomical_structure, Smooth muscle cell, Tuberous Sclerosi, Sex distribution, TSC1, TSC2, business, Melanoma-Specific Antigen, Tomography, X-Ray Computed, Melanoma-Specific Antigens, Rare disease, Human

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3788685a1936e903117bcc33a33f6b1bTest
http://hdl.handle.net/11585/74082Test