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A new patient with Lowry-Wood syndrome with mild phenotype.
Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G. Brunetti-Pierri N, et al. Among authors: sebastio g. Am J Med Genet A. 2003 Apr 1;118A(1):68-70. doi: 10.1002/ajmg.a.20008. Am J Med Genet A. 2003. PMID: 12605445
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: sebastio l. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787
Case of Myhre syndrome with autism and peculiar skin histological findings.
Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Titomanlio L, et al. Among authors: sebastio g. Am J Med Genet. 2001 Oct 1;103(2):163-5. doi: 10.1002/ajmg.1517. Am J Med Genet. 2001. PMID: 11568925
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: sebastio gf. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249
Severe cardiac anomalies in sibs with Larsen syndrome.
Strisciuglio P, Sebastio G, Andria G, Maione S, Raia V. Strisciuglio P, et al. Among authors: sebastio g. J Med Genet. 1983 Dec;20(6):422-4. doi: 10.1136/jmg.20.6.422. J Med Genet. 1983. PMID: 6655668 Free PMC article.
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Among authors: sebastio g. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.
92 results