Saglio G - Search Results

1

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Dianzani I, Camaschella C, Saglio G, Ferrero GB, Ramus S, Ponzone A, Cotton RG. Dianzani I, et al. Among authors: saglio g. J Med Genet. 1993 Mar;30(3):228-31. doi: 10.1136/jmg.30.3.228. J Med Genet. 1993. PMID: 8097261 Free PMC article.

2

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

Dianzani I, Forrest SM, Camaschella C, Saglio G, Ponzone A, Cotton RG. Dianzani I, et al. Among authors: saglio g. Am J Hum Genet. 1991 Mar;48(3):631-5. Am J Hum Genet. 1991. PMID: 1671810 Free PMC article.

3

Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch.

Dianzani I, Camaschella C, Saglio G, Forrest SM, Ramus S, Cotton RG. Dianzani I, et al. Among authors: saglio g. Genomics. 1991 Sep;11(1):48-53. doi: 10.1016/0888-7543(91)90100-s. Genomics. 1991. PMID: 1765385

4

Haplotype distribution and molecular defects of PKU in Italy.

Dianzani I, Camaschella C, Saglio G, Ferrero GB, Romeo G, Devoto M, Romano C, Cerone R, Giovannini M, Riva E, et al. Dianzani I, et al. Among authors: saglio g. J Inherit Metab Dis. 1990;13(3):292-4. doi: 10.1007/BF01799377. J Inherit Metab Dis. 1990. PMID: 1977954 No abstract available.

5

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero GB, Cerone R, Romano C, Romeo G, Giovannini M, Riva E, et al. Dianzani I, et al. Among authors: saglio g. Hum Genet. 1990 Nov;86(1):69-72. doi: 10.1007/BF00205176. Hum Genet. 1990. PMID: 1979309

6

A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.

Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L, Dore F, Sciarratta G, Ivaldi G, Saglio G, et al. Ottolenghi S, et al. Among authors: saglio g. Hum Genet. 1988 May;79(1):13-7. doi: 10.1007/BF00291702. Hum Genet. 1988. PMID: 2452784

7

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

Camaschella C, Serra A, Saglio G, Bertero MT, Mazza U, Terzoli S, Brambati B, Cremonesi L, Travi M, Ferrari M. Camaschella C, et al. Among authors: saglio g. J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307. J Med Genet. 1988. PMID: 2898535 Free PMC article.

8

Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.

Gottardi E, Losekoot M, Fodde R, Saglio G, Camaschella C, Bernini LF. Gottardi E, et al. Among authors: saglio g. Br J Haematol. 1992 Apr;80(4):533-8. doi: 10.1111/j.1365-2141.1992.tb04569.x. Br J Haematol. 1992. PMID: 1374633

9

A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family.

Fortina P, Dianzani I, Serra A, Gottardi E, Saglio G, Farinasso L, Piga A, Gabutti V, Camaschella C. Fortina P, et al. Among authors: saglio g. Br J Haematol. 1991 Aug;78(4):529-34. doi: 10.1111/j.1365-2141.1991.tb04483.x. Br J Haematol. 1991. PMID: 1911344

10

A new deletion in the beta globin gene cluster associated with high fetal hemoglobin production.

Camaschella C, Serra A, Gottardi E, Alfarano A, Revello D, Bertero MT, Saglio G. Camaschella C, et al. Among authors: saglio g. Prog Clin Biol Res. 1989;316B:123-32. Prog Clin Biol Res. 1989. PMID: 2482493 No abstract available.

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