Publications
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“Frequency of ANKK1, DRD2, DRD3 gene polymorphisms in refractory schizophrenia patients”, Genetics and Molecular Research, vol. 18, no. 4, 2019.
, “Genetic diversity of cassava landraces cultivated in northern Mato Grosso State, Brazil, using microsatellite markers”, Genetics and Molecular Research, vol. 18, no. 3, 2019.
, “Variations in genotype-phenotype correlations in phenylketonuria patients”, vol. 9, pp. 1-8, 2010.
, Anonymous (2003). PAHdb. Phenylalanine Hydroxylase Locus Knowledgebase. Available at [http://www.pahdb.mcgill.ca/]. Accessed August 4, 2009.
Acosta A, Silva W Jr, Carvalho T, Gomes M, et al. (2001). Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. Hum. Mutat. 17: 122-130.
http://dx.doi.org/10.1002/1098-1004(200102)17:2<122::AID-HUMU4>3.0.CO;2-C
Aulehla-Scholz C and Heilbronner H (2003). Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum. Mutat. 21: 399-400.
http://dx.doi.org/10.1002/humu.9116
PMid:12655553
Benit P, Rey F, Blandin-Savoja F, Munnich A, et al. (1999). The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 68: 43-47.
http://dx.doi.org/10.1006/mgme.1999.2886
PMid:10479481
Bercovich D, Elimelech A, Zlotogora J, Korem S, et al. (2008). Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J. Hum. Genet. 53: 407-418.
http://dx.doi.org/10.1007/s10038-008-0264-4
PMid:18299955
Clague A and Thomas A (2002). Neonatal biochemical screening for disease. Clin. Chim. Acta 315: 99-110.
http://dx.doi.org/10.1016/S0009-8981(01)00716-1
Daniele A, Scala I, Cardillo G, Pennino C, et al. (2009). Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. FEBS J. 276: 2048-2059.
http://dx.doi.org/10.1111/j.1742-4658.2009.06940.x
PMid:19292873
Dipple KM and McCabe ER (2000). Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66: 1729-1735.
http://dx.doi.org/10.1086/302938
PMid:10793008 PMCid:1378056
Dipple KM, Phelan JK and McCabe ER (2001). Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74: 45-50.
http://dx.doi.org/10.1006/mgme.2001.3227
PMid:11592802
Erlandsen H and Stevens RC (1999). The structural basis of phenylketonuria. Mol. Genet. Metab. 68: 103-125.
http://dx.doi.org/10.1006/mgme.1999.2922
PMid:10527663
Erlandsen H, Patch MG, Gamez A, Straub M, et al. (2003). Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics 112: 1557-1565.
PMid:14654665
Guldberg P, Rey F, Zschocke J, Romano V, et al. (1998). A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 63: 71-79.
http://dx.doi.org/10.1086/301920
PMid:9634518 PMCid:1377241
Guttler F (1980). Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. Suppl 280: 1-80.
PMid:7006308
Guttler F, Azen C, Guldberg P, Romstad A, et al. (1999). Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 104: 258-262.
http://dx.doi.org/10.1542/peds.104.2.258
PMid:10429004
Jennings IG, Cotton RG and Kobe B (2000). Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Eur. J. Hum. Genet. 8: 683-696.
http://dx.doi.org/10.1038/sj.ejhg.5200518
PMid:10980574
Kasnauskiene J, Cimbalistiene L and Kucinskas V (2003). Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. Med. Sci. Monit. 9: CR142-CR146.
PMid:12640344
Kayaalp E, Treacy E, Waters PJ, Byck S, et al. (1997). Human phenylalanine hydroxylase mutations and hyperphenylal-aninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61: 1309-1317.
http://dx.doi.org/10.1086/301638
PMid:9399896 PMCid:1716084
Kim SW, Jung J, Oh HJ, Kim J, et al. (2006). Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. Clin. Chim. Acta 365: 279-287.
http://dx.doi.org/10.1016/j.cca.2005.09.019
PMid:16253218
Leandro J, Nascimento C, de Almeida IT and Leandro P (2006). Co-expression of different subunits of human phenyl-alanine hydroxylase: evidence of negative interallelic complementation. Biochim. Biophys. Acta 1762: 544-550.
http://dx.doi.org/10.1016/j.bbadis.2006.02.001
PMid:16545551
Mallolas J, Mila M, Lambruschini N, Cambra FJ, et al. (1999). Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes. Mol. Genet. Metab. 67: 156-161.
http://dx.doi.org/10.1006/mgme.1999.2862
PMid:10356315
O'Flynn ME, Holtzman NA, Blaskovics M, Azen C, et al. (1980). The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria. Am. J. Dis. Child 134: 769-774.
PMid:7405915
Pey AL, Desviat LR, Gamez A, Ugarte M, et al. (2003). Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum. Mutat. 21: 370-378.
http://dx.doi.org/10.1002/humu.10198
PMid:12655546
Rivera I, Cabral A, Almeida M, Leandro P, et al. (2000). The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients. Mol. Genet. Metab. 69: 195-203.
http://dx.doi.org/10.1006/mgme.2000.2971
PMid:10767174
Santos LL, Magalhaes MC, Reis AO, Starling AL, et al. (2006). Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil. Genet. Mol. Res. 5: 16-23.
PMid:16755493
Santos LL, Castro-Magalhaes M, Fonseca CG, Starling AL, et al. (2008). PKU in Minas Gerais State, Brazil: mutation analysis. Ann. Hum. Genet. 72: 774-779.
http://dx.doi.org/10.1111/j.1469-1809.2008.00476.x
PMid:18798839
SAS Institute (2003). SAS/STAT® Software: Changes and Enhacements through Release 9.1. SAS Institute, Cary.
Scriver CR (2002). Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140: 502-506.
http://dx.doi.org/10.1067/mpd.2002.124316
PMid:12032513
Scriver CR (2007). The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28: 831-845.
http://dx.doi.org/10.1002/humu.20526
PMid:17443661
Scriver CR and Waters PJ (1999). Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15: 267-272.
http://dx.doi.org/10.1016/S0168-9525(99)01761-8
Scriver CR and Kaufman S (2001). The Hyperphenylalaninemias. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS and Valle D, eds.). McGraw-Hill, New York, 1667-1724.
Waters PJ (2003). How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Hum. Mutat. 21: 357-369.
http://dx.doi.org/10.1002/humu.10197
PMid:12655545
Waters PJ, Parniak MA, Nowacki P and Scriver CR (1998). In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum. Mutat. 11: 4-17.
http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L
Zschocke J (2003). Phenylketonuria mutations in Europe. Hum. Mutat. 21: 345-356.
http://dx.doi.org/10.1002/humu.10192
PMid:12655544