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Page 1
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: maghnie m. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Among authors: maghnie m. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F. Rigoli L, et al. Among authors: maghnie m. Pediatr Res. 2020 Feb;87(3):456-462. doi: 10.1038/s41390-019-0487-4. Epub 2019 Jul 2. Pediatr Res. 2020. PMID: 31266054
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
Perri K, De Mori L, Tortora D, Calevo MG, Allegri AEM, Napoli F, Patti G, Fava D, Crocco M, Schiavone M, Casalini E, Severino M, Rossi A, Di Iorgi N, Gastaldi R, Maghnie M. Perri K, et al. Among authors: maghnie m. J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. J Clin Endocrinol Metab. 2021. PMID: 34105732
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Piccolo G, d'Annunzio G, Amadori E, Riva A, Borgia P, Tortora D, Maghnie M, Minetti C, Gitto E, Iacomino M, Baldassari S, Fiorillo C, Zara F, Striano P, Salpietro V. Piccolo G, et al. Among authors: maghnie m. Front Neurol. 2021 Jul 12;12:704747. doi: 10.3389/fneur.2021.704747. eCollection 2021. Front Neurol. 2021. PMID: 34322088 Free PMC article.
Diagnostic Approach to Macrocephaly in Children.
Accogli A, Geraldo AF, Piccolo G, Riva A, Scala M, Balagura G, Salpietro V, Madia F, Maghnie M, Zara F, Striano P, Tortora D, Severino M, Capra V. Accogli A, et al. Among authors: maghnie m. Front Pediatr. 2022 Jan 14;9:794069. doi: 10.3389/fped.2021.794069. eCollection 2021. Front Pediatr. 2022. PMID: 35096710 Free PMC article. Review.
297 results