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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
Ogórek, Barbara, Hamieh, Lana, Hulshof, Hanna M., Lasseter, Kathryn, Klonowska, Katarzyna, Kuijf, Hugo, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Benova, Barbora, Aronica, Eleonora, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Janson, Stef, Kozlowski, Piotr, Urbanska, Malgorzata, Jaworski, Jacek, Jozwiak, Sergiusz, Jansen, Floor E., Kotulska, Katarzyna, Kwiatkowski, David J.
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Journal Article
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
Campanario da Silva Pereira, Conceição, Gomes Dantas, Felipe Diego, da Rosa Baratela, Wagner Antonio, Antunes da Costa, Fabiola, Tavares Lucato, Leandro, Kok, Fernando
Published in Brain & development (Tokyo. 1979) (01.08.2025)
Published in Brain & development (Tokyo. 1979) (01.08.2025)
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Journal Article
PTEN Expression, Not Mutation Status in TSC1, TSC2 , or mTOR , Correlates with the Outcome on Everolimus in Patients with Renal Cell Carcinoma Treated on the Randomized RECORD-3 Trial
Voss, Martin H., Chen, David, Reising, Albert, Marker, Mahtab, Shi, Jiayuan, Xu, Jianning, Ostrovnaya, Irina, Seshan, Venkatraman E., Redzematovic, Almedina, Chen, Ying-Bei, Patel, Parul, Han, Xia, Hsieh, James J., Hakimi, A. Ari, Motzer, Robert J.
Published in Clinical cancer research (15.01.2019)
Published in Clinical cancer research (15.01.2019)
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Journal Article
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex
Klonowska, Katarzyna, Grevelink, Joannes M., Giannikou, Krinio, Ogorek, Barbara A., Herbert, Zachary T., Thorner, Aaron R., Darling, Thomas N., Moss, Joel, Kwiatkowski, David J.
Published in The Journal of clinical investigation (15.05.2022)
Published in The Journal of clinical investigation (15.05.2022)
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Journal Article
Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience
Almuqbil, Mohammed, Aldoohan, Waad, Alhinti, Sara, Almahmoud, Nora, Abdulmajeed, Imad, Alkhodair, Rayan, Kashgari, Amna, Baarmah, Duaa, Altwaijri, Waleed, Alrumayyan, Ahmad
Published in Neurosciences (Riyadh, Saudi Arabia) (01.04.2024)
Published in Neurosciences (Riyadh, Saudi Arabia) (01.04.2024)
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Journal Article
Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers
MEGURO, SATORU, KOGUCHI, TOMOYUKI, HAKOZAKI, YUSUKE, ONAGI, AKIFUMI, MATSUOKA, KANAKO, HOSHI, SEIJI, HATA, JUNYA, SATO, YUICHI, AKAIHATA, HIDENORI, KATAOKA, MASAO, OGAWA, SOICHIRO, KOJIMA, YOSHIYUKI
Published in Cancer genomics & proteomics (01.01.2023)
Published in Cancer genomics & proteomics (01.01.2023)
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Journal Article
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation
Han, MeiLan K, Tyburczy, Magdalena E, Darling, Thomas N, Kazerooni, Ella A, Myers, Jeffrey L, McCormack, Francis X, Moss, Joel, Kwiatkowski, David J
Published in Annals of the American Thoracic Society (01.07.2017)
Published in Annals of the American Thoracic Society (01.07.2017)
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Journal Article
Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis
Lamattina, Anthony M., Poli, Sergio, Kidambi, Pranav, Bagwe, Shefali, Courtwright, Andrew, Louis, Pierce H., Shrestha, Shikshya, Stump, Benjamin, Goldberg, Hilary J., Thiele, Elizabeth A., Rosas, Ivan, Henske, Elizabeth P., El-Chemaly, Souheil
Published in Orphanet journal of rare diseases (29.03.2019)
Published in Orphanet journal of rare diseases (29.03.2019)
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Journal Article