257 related articles for article (PubMed ID: 16879198)
21. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A; Scala I; Cardillo G; Pennino C; Ungaro C; Sibilio M; Parenti G; Esposito L; Zagari A; Andria G; Salvatore F
FEBS J; 2009 Apr; 276(7):2048-59. PubMed ID: 19292873
[TBL] [Abstract][Full Text] [Related]
22. [Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].
Solovĭov OO; Livshyts' LA
Tsitol Genet; 2009; 43(4):20-4. PubMed ID: 19938643
[TBL] [Abstract][Full Text] [Related]
23. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Groselj U; Tansek MZ; Kovac J; Hovnik T; Podkrajsek KT; Battelino T
Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
[TBL] [Abstract][Full Text] [Related]
24. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
Qu YJ; Song F; Jin YW; Wang H; Zhang YM; Qin JL; Qiu L
Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
[TBL] [Abstract][Full Text] [Related]
25. Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Dahri S; Desviat LR; Pérez B; Leal F; Ugarte M; Chabraoui L
Clin Biochem; 2010 Jan; 43(1-2):76-81. PubMed ID: 19786003
[TBL] [Abstract][Full Text] [Related]
26. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
Shu JB; Meng YT; Dang LH; Fu BJ; Song L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
[TBL] [Abstract][Full Text] [Related]
27. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF; Ellingson C; Coyne T; Grey J; Martin R; Naylor EW; Koch R; Levy HL
Mol Genet Metab; 2007 Jul; 91(3):218-27. PubMed ID: 17502162
[TBL] [Abstract][Full Text] [Related]
28. 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
Hum Mutat; 2001 May; 17(5):432. PubMed ID: 11317360
[TBL] [Abstract][Full Text] [Related]
29. Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
Popescu T; Blazkova M; Kozak L; Jebeleanu G; Popescu A
Hum Mutat; 1998; 12(5):314-9. PubMed ID: 9792407
[TBL] [Abstract][Full Text] [Related]
30. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
Desviat LR; Pérez B; Ugarte M
Clin Chim Acta; 2006 Nov; 373(1-2):164-7. PubMed ID: 16875683
[TBL] [Abstract][Full Text] [Related]
31. Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Pérez B; Desviat LR; De Lucca M; Cornejo V; Raimann E; Ugarte M
Hum Mutat; 1999; 13(6):503. PubMed ID: 10408782
[TBL] [Abstract][Full Text] [Related]
32. Variations in genotype-phenotype correlations in phenylketonuria patients.
Santos LL; Fonseca CG; Starling AL; Januário JN; Aguiar MJ; Peixoto MG; Carvalho MR
Genet Mol Res; 2010 Jan; 9(1):1-8. PubMed ID: 20082265
[TBL] [Abstract][Full Text] [Related]
33. Molecular basis of phenylketonuria in Cuba.
Desviat LR; Pérez B; Gutierrez E; Sánchez A; Barrios B; Ugarte M
Hum Mutat; 2001 Sep; 18(3):252. PubMed ID: 11524738
[TBL] [Abstract][Full Text] [Related]
34. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR; Zschocke J; Lindner M; Feillet F; Chery C; Burlina A; Stevens RC; Thöny B; Blau N
Hum Mutat; 2008 Jan; 29(1):167-75. PubMed ID: 17935162
[TBL] [Abstract][Full Text] [Related]
35. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
36. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
37. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I; Meili D; Sarnavka V; Heintz C; Thöny B; Ramadza DP; Fumić K; Mardesić D; Barić I; Blau N
Mol Genet Metab; 2009 Jul; 97(3):165-71. PubMed ID: 19394257
[TBL] [Abstract][Full Text] [Related]
38. Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.
Hamzehloei T; Hosseini SA; Vakili R; Mojarad M
Gene; 2012 Sep; 506(1):230-2. PubMed ID: 22763404
[TBL] [Abstract][Full Text] [Related]
39. Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Pey AL; Desviat LR; Gámez A; Ugarte M; Pérez B
Hum Mutat; 2003 Apr; 21(4):370-8. PubMed ID: 12655546
[TBL] [Abstract][Full Text] [Related]
40. Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
Mallolas J; Campistol J; Lambruschini N; Vilaseca MA; Cambra FJ; Estivill X; Milà M
Hum Mutat; 1998; 11(6):482. PubMed ID: 10200057
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
