Publications

Bindu L, Balaram P, Mathew A, Remani P, et al. (2003). Radiation-induced changes in oral carcinoma cells - a multiparametric evaluation. Cytopathology 14: 287-293. http://dx.doi.org/10.1046/j.1365-2303.2003.00059.x PMid:14510894   Bloching M, Hofmann A, Lautenschlager C, Berghaus A, et al. (2000). Exfoliative cytology of normal buccal mucosa to predict the relative risk of cancer in the upper aerodigestive tract using the MN-assay. Oral Oncol. 36: 550-555. http://dx.doi.org/10.1016/S1368-8375(00)00051-8   Bonassi S, Znaor A, Ceppi M, Lando C, et al. (2007). An increased micronucleus frequency in peripheral blood lymphocytes predicts the risk of cancer in humans. Carcinogenesis 28: 625-631. http://dx.doi.org/10.1093/carcin/bgl177 PMid:16973674   Bonassi S, El-Zein R, Bolognesi C and Fenech M (2011). Micronuclei frequency in peripheral blood lymphocytes and cancer risk: evidence from human studies. Mutagenesis 26: 93-100. http://dx.doi.org/10.1093/mutage/geq075 PMid:21164188   Burgaz S, Coskun E, Demircigil GC, Kocabas NA, et al. (2011). Micronucleus frequencies in lymphocytes and buccal epithelial cells from patients having head and neck cancer and their first-degree relatives. Mutagenesis 26: 351-356. http://dx.doi.org/10.1093/mutage/geq101 PMid:21248276   Cerqueira EMM, Gomes-Filho IS, Trindade S, Lopes MA, et al. (2004). Genetic damage in exfoliated cells from oral mucosa of individuals exposed to X-rays during panoramic dental radiographies. Mutat. Res. 562: 111-117. http://dx.doi.org/10.1016/j.mrgentox.2004.05.008 PMid:15279834   Dumont P, Leu JI, Pietra ACD, George DL, et al. (2003). The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat. Genet. 33: 357-365. http://dx.doi.org/10.1038/ng1093 PMid:12567188   Ezzikouri S, El Feydi AE, Chafik A, Benazzouz M, et al. (2007). The Pro variant of the p53 codon 72 polymorphism is associated with hepatocellular carcinoma in Moroccan population. Hepatol. Res. 37: 748-754. http://dx.doi.org/10.1111/j.1872-034X.2007.00126.x PMid:17573955   Fenech M and Bonassi S (2011). The effect of age, gender, diet and lifestyle on DNA damage measured using micronucleus frequency in human peripheral blood lymphocytes. Mutagenesis 26: 43-49. http://dx.doi.org/10.1093/mutage/geq050 PMid:21164181   Feulgen R and Rossenbeck H (1924). Mikorskopisch-chemischer nachweis einer nucleinsaure von typus der thymonucleisaure und die darauf beruhende elektive farbung vom zellkernen in mikroskopischen praparaten. Z. Phys. Chem. 135: 203-248. http://dx.doi.org/10.1515/bchm2.1924.135.5-6.203   Green DR and Kroemer G (2009). Cytoplasmic functions of the tumour suppressor p53. Nature 458: 1127-1130. http://dx.doi.org/10.1038/nature07986 PMid:19407794 PMCid:2814168   Jianlin L, Jiliang H, Lifen J, Wei Z, et al. (2004). Measuring the genetic damage in cancer patients during radiotherapy with three genetic end-points. Mutagenesis 19: 457-464. http://dx.doi.org/10.1093/mutage/geh057 PMid:15548757   Miller SA, Dykes DD and Polesky HF (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215. http://dx.doi.org/10.1093/nar/16.3.1215 PMid:3344216 PMCid:334765   Norppa H and Falck GC (2003). What do human micronuclei contain? Mutagenesis 18: 221-233. http://dx.doi.org/10.1093/mutage/18.3.221 PMid:12714687   Ramirez A and Saldanha PH (2002). Micronucleus investigation of alcoholic patients with oral carcinomas. Genet. Mol. Res. 1: 246-260. PMid:14963832   Raymond M and Rousset F (1995). GENEPOP (version 1.2) population genetic software for exact tests and ecumenicism. J. Heredity 86: 248-249.   Shidnia H, Crabtree W, Hornback N, Young P, et al. (1990). Micronuclei assay - a predictive variable for tumor response to treatment. Adv. Exp. Med. Biol. 267: 51-55. http://dx.doi.org/10.1007/978-1-4684-5766-7_5 PMid:1965096   Sokal RR and Rohlf FJ (1995). The Normal Probability Distribution. In: Biometry. 3rd edn. W.H. Freeman and Company, New York, 116-123.   Tolbert PE, Shy CM and Allen JW (1992). Micronuclei and other nuclear anomalies in buccal smears: methods development. Mutat. Res. 271: 69-77. http://dx.doi.org/10.1016/0165-1161(92)90033-I   Whibley C, Pharoah PD and Hollstein M (2009). p53 polymorphisms: cancer implications. Nat. Rev. Cancer 9: 95-107. http://dx.doi.org/10.1038/nrc2584 PMid:19165225

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