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423 results

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Page 1
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Among authors: mari f. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Tonin R, Feo F, Falliano S, Ferri L, Giunti L, Calamai M, Procopio E, Mari F, Conti V, Fanelli I, Bambi F, Guerrini R, Morrone A. Tonin R, et al. Among authors: mari f. Stem Cell Res. 2023 Dec;73:103235. doi: 10.1016/j.scr.2023.103235. Epub 2023 Oct 21. Stem Cell Res. 2023. PMID: 38323760 Free article.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: mari f. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Chronic Compartment Syndrome in Athletes.
Jorge PB, Toledo MB, Mari FC, Toledo RRF, Lima MV, Sprey JWC. Jorge PB, et al. Among authors: mari fc. Rev Bras Ortop (Sao Paulo). 2024 Jul 15;59(5):e650-e656. doi: 10.1055/s-0044-1787766. eCollection 2024 Oct. Rev Bras Ortop (Sao Paulo). 2024. PMID: 39649060 Free PMC article.
Usage of the Anemia Control Model Is Associated with Reduced Hospitalization Risk in Hemodialysis.
Garbelli M, Baro Salvador ME, Rincon Bello A, Samaniego Toro D, Bellocchio F, Fumagalli L, Chermisi M, Apel C, Petrovic J, Kendzia D, Ion Titapiccolo J, Yeung J, Barbieri C, Mari F, Usvyat L, Larkin J, Stuard S, Neri L. Garbelli M, et al. Among authors: mari f. Biomedicines. 2024 Sep 28;12(10):2219. doi: 10.3390/biomedicines12102219. Biomedicines. 2024. PMID: 39457532 Free PMC article.
Survival and Health Care Burden of Children With Retinoblastoma in Europe.
Virgili G, Capocaccia R, Botta L, Bennett D, Hadjistilianou T, Innos K, Karim-Kos H, Kuehni CE, Kuhnel U, Mazzini C, Canete Nieto A, Paapsi K, Parravano M, Ronckers CM, Rossi S, Stiller C, Vicini G, Visser O, Gatta G; EUROCARE-6 Working Group. Virgili G, et al. JAMA Ophthalmol. 2024 Oct 10;142(11):1062-70. doi: 10.1001/jamaophthalmol.2024.4140. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39388193
423 results