Naughten E - Search Results

1

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: naughten e. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548

2

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.

O'Donnell KA, O'Neill C, Tighe O, Bertorelle G, Naughten E, Mayne PD, Croke DT. O'Donnell KA, et al. Among authors: naughten e. Eur J Hum Genet. 2002 Sep;10(9):530-8. doi: 10.1038/sj.ejhg.5200841. Eur J Hum Genet. 2002. PMID: 12173030

3

Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.

O'Donnell KA, Tighe O, O'Neill C, Naughten E, Mayne PD, McCarthy TV, Vaughan P, Croke DT. O'Donnell KA, et al. Among authors: naughten e. Hum Mutat. 2001 May;17(5):432. doi: 10.1002/humu.1120. Hum Mutat. 2001. PMID: 11317360

4

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.

Flanagan JM, Tighe O, O' Neill C, Naughten E, Mayne PD, Croke DT. Flanagan JM, et al. Among authors: naughten e. Mol Genet Metab. 2004 Feb;81(2):133-6. doi: 10.1016/j.ymgme.2003.10.008. Mol Genet Metab. 2004. PMID: 14741195

5

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population.

Tighe O, Flanagan JM, Kernan F, O'Neill C, Naughten E, Mayne PD, Croke DT. Tighe O, et al. Among authors: naughten e. Mol Genet Metab. 2004 Aug;82(4):345-7. doi: 10.1016/j.ymgme.2004.06.005. Mol Genet Metab. 2004. PMID: 15308134

6

Molecular analysis of PKU in Ireland.

O'Neill CA, Eisensmith RC, Croke DT, Naughten ER, Cahalane SF, Woo SL. O'Neill CA, et al. Among authors: naughten er. Acta Paediatr Suppl. 1994 Dec;407:43-4. doi: 10.1111/j.1651-2227.1994.tb13448.x. Acta Paediatr Suppl. 1994. PMID: 7766956

7

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E, Croke DT. Murphy M, et al. Among authors: naughten e. Eur J Hum Genet. 1999 Jul;7(5):549-54. doi: 10.1038/sj.ejhg.5200327. Eur J Hum Genet. 1999. PMID: 10439960

8

Mutational spectrum of phenylketonuria in Ireland.

O'Donnell KA, O'Neill CA, Mayne P, Naughten E, Croke DT. O'Donnell KA, et al. Among authors: naughten e. Biochem Soc Trans. 1998 Feb;26(1):S79. doi: 10.1042/bst026s079. Biochem Soc Trans. 1998. PMID: 10909837 No abstract available.

9

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.

Flanagan JM, McMahon G, Brendan Chia SH, Fitzpatrick P, Tighe O, O'Neill C, Briones P, Gort L, Kozak L, Magee A, Naughten E, Radomyska B, Schwartz M, Shin JS, Strobl WM, Tyfield LA, Waterham HR, Russell H, Bertorelle G, Reichardt JK, Mayne PD, Croke DT. Flanagan JM, et al. Among authors: naughten e. Heredity (Edinb). 2010 Feb;104(2):148-54. doi: 10.1038/hdy.2009.84. Epub 2009 Jul 29. Heredity (Edinb). 2010. PMID: 19639008

10

Frequency distribution of the Q188R mutation in the Irish galactosaemic population.

Murphy M, Sexton D, O'Neill C, Croke DT, Mayne PD, Naughten ER. Murphy M, et al. Among authors: naughten er. J Inherit Metab Dis. 1996;19(2):217-9. doi: 10.1007/BF01799433. J Inherit Metab Dis. 1996. PMID: 8739969 No abstract available.

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