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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: raiti l. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Among authors: raiti l. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
Sociodemographic and clinical factors associated with poor COVID-19 outcomes in patients with rheumatic diseases: data from the SAR-COVID Registry.
Isnardi CA, Roberts K, Saurit V, Petkovic I, Báez RM, Quintana R, Tissera Y, Ornella S, D Angelo Exeni ME, Pisoni CN, Castro Coello VV, Berbotto G, Haye Salinas MJ, Velozo E, Reyes Torres ÁA, Tanten R, Zelaya MD, Gobbi C, Alonso CG, de Los Ángeles Severina M, Vivero F, Paula A, Cogo AK, Alle G, Pera M, Nieto RE, Cosatti M, Asnal C, Pereira D, Albiero JA, Savio VG, Maldonado FN, Gamba MJ, Germán NF, Baños A, Gallino Yanzi J, Gálvez Elkin MS, Morbiducci JS, Martire MV, Maldonado Ficco H, Schmid MM, Villafañe Torres JA, de Los Ángeles Correa M, Medina MA, Cusa MA, Scafati J, Agüero SE, Lloves Schenone NM, Soriano ER, Graf C, Pons-Estel BA, Gomez G, Landi M, De la Vega MC, Pons-Estel GJ; S. A. R.–COVID Registry Investigators. Isnardi CA, et al. Clin Rheumatol. 2023 Feb;42(2):563-578. doi: 10.1007/s10067-022-06393-8. Epub 2022 Oct 6. Clin Rheumatol. 2023. PMID: 36201124 Free PMC article.
Primary Sjögren syndrome and development of another autoimmune rheumatic disease during the follow-up.
Rodríguez MF, Asnal C, Gobbi CA, Pellet ACC, Herscovich N, Amitrano C, Demarchi J, Noé DD, Segura C, Caeiro F, Riscanevo N, Saurit V, Papasidero S, Alba PB, Raiti L, Cruzat V, Santiago ML, Vélez S, Salvatierra G, Juárez V, Secco A. Rodríguez MF, et al. Among authors: raiti l. Adv Rheumatol. 2022 Jun 7;62(1):19. doi: 10.1186/s42358-022-00250-7. Adv Rheumatol. 2022. PMID: 35672809
Work productivity and activity impairment in patients with primary Sjögren's syndrome.
Bejarano MV, Romanini F, Catalán Pellet A, Mamani MN, Papasidero S, Demarchi J, Asnal CA, Crow CE, Nitsche A, Encinas L, Caeiro F, Gobbi CA, Albiero E, Gómez A, Águila Maldonado R, García M, Gallardo MA, Soriano ER, Raiti L, Salvatierra G, Eimon A, Secco A. Bejarano MV, et al. Among authors: raiti l. Clin Exp Rheumatol. 2021 Nov-Dec;39 Suppl 133(6):93-99. doi: 10.55563/clinexprheumatol/6rd9mr. Epub 2021 Nov 10. Clin Exp Rheumatol. 2021. PMID: 34796845 Free article.
Evaluation of the Educational Needs in Argentine Patients with Rheumatoid Arthritis Using the SpENAT Questionnaire.
Pérez S, Santa Cruz M, Sosa J, Kohan P, Medina M, Klajn D, Papasidero S, Caracciolo J, Pendón G, Giordano F, Pereira D, Alvarez D, Astudillo V, Kerzberg E, Perez Dávila A, Bohr A, Melo F, Lloves N, Mamani M, Hartvig C, Sanchez G, Sacnum M, Chichotky Y, Velazco Zamora J, Benegas M, Rosa J, García M, Raiti L, Cruzat V, Quintana R, Pons-Estel B, Kirmayr K, D'Orazio A, Retamozo C, Romano O, Perez Alamino R, Correa M, Citera G, Rillo O, Zalazar M, Costi A, García M, Gomez G, Maldonado Ficco H. Pérez S, et al. Among authors: raiti l. Reumatol Clin (Engl Ed). 2020 Sep-Oct;16(5 Pt 2):386-390. doi: 10.1016/j.reuma.2018.09.002. Epub 2018 Oct 29. Reumatol Clin (Engl Ed). 2020. PMID: 30385296 Free article. English, Spanish.
Primary Sjögren's syndrome: Extraglandular manifestations and hydroxychloroquine therapy.
Demarchi J, Papasidero S, Medina MA, Klajn D, Chaparro Del Moral R, Rillo O, Martiré V, Crespo G, Secco A, Catalan Pellet A, Amitrano C, Crow C, Asnal C, Pucci P, Caeiro F, Benzanquen N, Pirola JP, Mayer M, Zazzetti F, Velez S, Barreira J, Tamborenea N, Santiago L, Raiti L. Demarchi J, et al. Among authors: raiti l. Clin Rheumatol. 2017 Nov;36(11):2455-2460. doi: 10.1007/s10067-017-3822-3. Epub 2017 Sep 14. Clin Rheumatol. 2017. PMID: 28913747
Primary Sjögren's syndrome and pregnancy: A report of 18 cases.
Demarchi J, Papasidero SB, Klajn D, Alba P, Babini AM, Durigan V, Gobbi C, Raiti L. Demarchi J, et al. Among authors: raiti l. Reumatol Clin (Engl Ed). 2019 Mar-Apr;15(2):109-112. doi: 10.1016/j.reuma.2017.07.014. Epub 2017 Aug 26. Reumatol Clin (Engl Ed). 2019. PMID: 28844688 Free article. English, Spanish.