Dianzani I - Search Results

1

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. Genomics. 1991 Sep;11(1):48-53. doi: 10.1016/0888-7543(91)90100-s. Genomics. 1991. PMID: 1765385

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. Am J Hum Genet. 1991 Mar;48(3):631-5. Am J Hum Genet. 1991. PMID: 1671810 Free PMC article.

3

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. 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.

4

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: dianzani i. Br J Haematol. 1991 Aug;78(4):529-34. doi: 10.1111/j.1365-2141.1991.tb04483.x. Br J Haematol. 1991. PMID: 1911344

5

A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing.

Dianzani I, Ramus S, Cotton RG, Camaschella C. Dianzani I, et al. Br J Haematol. 1991 Sep;79(1):127-9. doi: 10.1111/j.1365-2141.1991.tb08026.x. Br J Haematol. 1991. PMID: 1911375 No abstract available.

6

Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch.

Dianzani I, Forrest SM, Camaschella C, Gottardi E, Cotton RG. Dianzani I, et al. Am J Hum Genet. 1991 Feb;48(2):423-4. Am J Hum Genet. 1991. PMID: 1990848 Free PMC article. No abstract available.

7

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

Forrest SM, Dahl HH, Howells DW, Dianzani I, Cotton RG. Forrest SM, et al. Among authors: dianzani i. Am J Hum Genet. 1991 Jul;49(1):175-83. Am J Hum Genet. 1991. PMID: 2063869 Free PMC article.

8

Dilemmas and progress in mutation detection.

Dianzani I, Camaschella C, Ponzone A, Cotton RG. Dianzani I, et al. Trends Genet. 1993 Dec;9(12):403-5. doi: 10.1016/0168-9525(93)90100-v. Trends Genet. 1993. PMID: 8122304 No abstract available.

9

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG. Dianzani I, et al. J Med Genet. 1993 Jun;30(6):465-9. doi: 10.1136/jmg.30.6.465. J Med Genet. 1993. PMID: 8326489 Free PMC article.

10

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. J Inherit Metab Dis. 1990;13(3):292-4. doi: 10.1007/BF01799377. J Inherit Metab Dis. 1990. PMID: 1977954 No abstract available.

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