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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. Among authors: meloni i. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 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: meloni 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.
Mosaicism in Alport syndrome with genetic counselling.
Bruttini M, Vitelli F, Meloni I, Rizzari G, Volpe MD, Mazzucco G, Marchi MD, Renieri A. Bruttini M, et al. Among authors: meloni i. J Med Genet. 2000 Sep;37(9):717-9. doi: 10.1136/jmg.37.9.717. J Med Genet. 2000. PMID: 11182935 Free PMC article. No abstract available.
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. Longo I, et al. Among authors: meloni i. J Med Genet. 2003 Jan;40(1):11-7. doi: 10.1136/jmg.40.1.11. J Med Genet. 2003. PMID: 12525535 Free PMC article.
108 results