Sebastio G - Search Results

1

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. De Brasi D, et al. Among authors: sebastio g. Eur J Hum Genet. 1999 Dec;7(8):937-40. doi: 10.1038/sj.ejhg.5200390. Eur J Hum Genet. 1999. PMID: 10602371

2

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Hum Mutat. 2008 Jan;29(1):14-21. doi: 10.1002/humu.20589. Hum Mutat. 2008. PMID: 17764084 Review.

3

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F. Santamaria R, et al. Among authors: sebastio g. J Med Genet. 1996 Sep;33(9):786-8. doi: 10.1136/jmg.33.9.786. J Med Genet. 1996. PMID: 8880583 Free PMC article.

4

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G. Guzzetta V, et al. Among authors: sebastio g. J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604. J Inherit Metab Dis. 1997. PMID: 9323556

5

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G. De Franchis R, et al. Among authors: sebastio g. Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309. Eur J Pediatr. 1998. PMID: 9587029 Review.

6

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.

Titomanlio L, Della Casa R, Lecora M, Farina V, Sebastio G, Andria G, Parenti G. Titomanlio L, et al. Among authors: sebastio g. Am J Med Genet. 1999 Sep 3;86(1):82-5. Am J Med Genet. 1999. PMID: 10440835

7

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.

8

Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.

Sperandeo MP, Ungaro P, Vernucci M, Pedone PV, Cerrato F, Perone L, Casola S, Cubellis MV, Bruni CB, Andria G, Sebastio G, Riccio A. Sperandeo MP, et al. Among authors: sebastio g. Am J Hum Genet. 2000 Mar;66(3):841-7. doi: 10.1086/302811. Am J Hum Genet. 2000. PMID: 10712200 Free PMC article.

9

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G. Sebastio G, et al. Am J Hum Genet. 1995 Jun;56(6):1324-33. Am J Hum Genet. 1995. PMID: 7762555 Free PMC article.

10

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

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