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Page 1
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: goncalves t. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
LARP7 family proteins have conserved function in telomerase assembly.
Collopy LC, Ware TL, Goncalves T, Í Kongsstovu S, Yang Q, Amelina H, Pinder C, Alenazi A, Moiseeva V, Pearson SR, Armstrong CA, Tomita K. Collopy LC, et al. Among authors: goncalves t. Nat Commun. 2018 Feb 8;9(1):557. doi: 10.1038/s41467-017-02296-4. Nat Commun. 2018. PMID: 29422501 Free PMC article.
Utility of an Echocardiographic Machine Learning Model to Predict Outcomes in ICCU Patients.
Aghezzaf S, Coisne A, Hamzi K, Toupin S, Bouleti C, Fauvel C, Brette JB, Montaigne D, Vasram RR, Trimaille A, Lemesle G, Schurtz G, Gerbaud E, Delmas C, Bedossa M, Dib JC, Roule V, Puymirat E, Gilard M, Boukhris M, Mansencal N, Bouali N, Andrieu S, Gonçalves T, Dillinger JG, Henry P, Pezel T. Aghezzaf S, et al. Among authors: goncalves t. J Am Soc Echocardiogr. 2024 Dec 14:S0894-7317(24)00633-3. doi: 10.1016/j.echo.2024.11.014. Online ahead of print. J Am Soc Echocardiogr. 2024. PMID: 39681171
Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit.
Gonçalves TAP, Zotin MCZ, Moreira CL, Frezatti RSS, Santos AC, Junior WM, Tomaselli PJ. Gonçalves TAP, et al. Pediatr Neurol. 2024 Nov 14;163:4-6. doi: 10.1016/j.pediatrneurol.2024.11.006. Online ahead of print. Pediatr Neurol. 2024. PMID: 39626493
583 results