Sebastio G - Search Results

1

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM. Sebastio G, et al. J Med Genet. 1991 Apr;28(4):241-3. doi: 10.1136/jmg.28.4.241. J Med Genet. 1991. PMID: 1856829 Free PMC article.

2

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.

3

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.

4

Identification of a novel mutation (Leu256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

Ali M, Sebastio G, Cox TM. Ali M, et al. Among authors: sebastio g. Hum Mol Genet. 1994 Apr;3(4):684. Hum Mol Genet. 1994. PMID: 8069328 No abstract available.

5

Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

Ali M, Sebastio G, Cox TM. Ali M, et al. Among authors: sebastio g. Hum Mol Genet. 1994 Jan;3(1):203-4. doi: 10.1093/hmg/3.1.203. Hum Mol Genet. 1994. PMID: 8162030 No abstract available.

6

Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al. Cross NC, et al. Among authors: sebastio g. Lancet. 1990 Feb 10;335(8685):306-9. doi: 10.1016/0140-6736(90)90603-3. Lancet. 1990. PMID: 1967768

7

Spina bifida and folate-related genes: a study of gene-gene interactions.

de Franchis R, Botto LD, Sebastio G, Ricci R, Iolascon A, Capra V, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: sebastio g. Genet Med. 2002 May-Jun;4(3):126-30. doi: 10.1097/00125817-200205000-00005. Genet Med. 2002. PMID: 12180146 Free article.

8

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

9

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

10

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.

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