Cotton RG - Search Results

1

RFLPs of the phenylalanine hydroxylase gene in the Italian population.

Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl HH, Cotton RG, Ponzone A. Dianzani I, et al. Among authors: cotton rg. J Inherit Metab Dis. 1989;12(2):162-5. doi: 10.1007/BF01800721. J Inherit Metab Dis. 1989. PMID: 2569049

2

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: cotton rg. 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.

3

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

4

Tetrahydrobiopterin loading test in hyperphenylalaninemia.

Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RG. Ponzone A, et al. Among authors: cotton rg. Pediatr Res. 1991 Nov;30(5):435-8. doi: 10.1203/00006450-199111000-00008. Pediatr Res. 1991. PMID: 1754298

5

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: cotton rg. Am J Hum Genet. 1991 Jul;49(1):175-83. Am J Hum Genet. 1991. PMID: 2063869 Free PMC article.

6

Two mutations of dihydropteridine reductase deficiency.

Ponzone A, Guardamagna O, Ferraris S, Bracco G, Niederwieser A, Cotton RG. Ponzone A, et al. Among authors: cotton rg. Arch Dis Child. 1988 Feb;63(2):154-7. doi: 10.1136/adc.63.2.154. Arch Dis Child. 1988. PMID: 2894818 Free PMC article.

7

Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.

Speer A, Dahl HH, Riess O, Cobet G, Hanke R, Cotton RG, Coutelle C. Speer A, et al. Among authors: cotton rg. Clin Genet. 1986 Jun;29(6):491-5. Clin Genet. 1986. PMID: 3017615

8

Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.

Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG. Ponzone A, et al. Among authors: cotton rg. Pediatr Res. 1993 Feb;33(2):125-8. doi: 10.1203/00006450-199302000-00007. Pediatr Res. 1993. PMID: 8433887

9

Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.

Dianzani I, Cotton RG, Camaschella C, Ponzone A, Piazza A, Landegren U. Dianzani I, et al. Among authors: cotton rg. Eur J Hum Genet. 1999 Dec;7(8):941-3. doi: 10.1038/sj.ejhg.5200410. Eur J Hum Genet. 1999. PMID: 10602372 No abstract available.

10

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.

Dahl HH, Wake S, Cotton RG, Danks DM. Dahl HH, et al. Among authors: cotton rg. J Med Genet. 1988 Jan;25(1):25-8. doi: 10.1136/jmg.25.1.25. J Med Genet. 1988. PMID: 2895188 Free PMC article.

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