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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: longo i. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
Preserved speech variant is allelic of classic Rett syndrome.
De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A. De Bona C, et al. Among authors: longo i. Eur J Hum Genet. 2000 May;8(5):325-30. doi: 10.1038/sj.ejhg.5200473. Eur J Hum Genet. 2000. PMID: 10854091 Free article.
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. Longo I, et al. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 Free article.
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Among authors: longo i. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946
Rett syndrome: the complex nature of a monogenic disease.
Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Renieri A, et al. Among authors: longo i. J Mol Med (Berl). 2003 Jun;81(6):346-54. doi: 10.1007/s00109-003-0444-9. Epub 2003 May 16. J Mol Med (Berl). 2003. PMID: 12750821 Review.
Type-IV collagen related diseases.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. Among authors: longo i. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F. Longo I, et al. Eur J Hum Genet. 2004 Aug;12(8):682-5. doi: 10.1038/sj.ejhg.5201198. Eur J Hum Genet. 2004. PMID: 15069458
115 results