The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
暂无分享,去创建一个
Zongfu Cao | Xu Ma | Yousheng Yan | Chuan Zhang | S. Hao | Yan Wang | Lei Zheng | Bingbo Zhou | Qinghua Zhang | Panpan Ma | Ling Hui | Yupei Wang | Xinyuan Tian | Pei Zhang
[1] Yaqing Guo,et al. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing , 2022, Human genomics.
[2] C. Yin,et al. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria , 2021, Human mutation.
[3] P. Gunaratne,et al. A noncoding RNA modulator potentiates phenylalanine metabolism in mice , 2021, Science.
[4] H. Pan,et al. Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families , 2021, Chinese medical journal.
[5] Kaili Xie,et al. Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China , 2021, Birth defects research.
[6] V. Stoppioni,et al. The Genetic Landscape and Epidemiology of Phenylketonuria. , 2020, American journal of human genetics.
[7] R. Saxena,et al. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study , 2020, BMC medical genetics.
[8] A. Seymour,et al. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. , 2019, Molecular genetics and metabolism.
[9] Ping Liu,et al. Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. , 2019, American journal of human genetics.
[10] Juan Liang,et al. Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study , 2019, BMJ Open.
[11] Xu Ma,et al. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants , 2019, Metabolic Brain Disease.
[12] Nenad Blau,et al. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. , 2018, Molecular genetics and metabolism.
[13] I. Kuznetsova,et al. Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus , 2018, PloS one.
[14] N. Blau,et al. Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. , 2018, Clinica chimica acta; international journal of clinical chemistry.
[15] B. Andresen,et al. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site , 2018, PLoS genetics.
[16] Jie Dong,et al. Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array. , 2017, American journal of audiology.
[17] Edward L. Huttlin,et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. , 2017, American journal of human genetics.
[18] A. Munnich,et al. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature , 2016, Human mutation.
[19] Jun Zhu,et al. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing , 2015, Scientific Reports.
[20] M. Kabra,et al. Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India , 2014, Journal of cellular biochemistry.
[21] John J. Mitchell,et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline , 2013, Genetics in Medicine.
[22] V. Wiwanitkit,et al. Prevalence of neonatal hypothyroidism and phenylketonuria in Southern Thailand: A 10-year report , 2011, Indian journal of endocrinology and metabolism.
[23] S. Kudo,et al. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan , 2011, Journal of Human Genetics.
[24] Dong Hwan Lee,et al. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria , 2008, Experimental & Molecular Medicine.
[25] D. Bercovich,et al. Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene , 2008, Journal of Human Genetics.
[26] C. Scriver,et al. The PAH gene, phenylketonuria, and a paradigm shift , 2007, Human mutation.
[27] C. Aulehla‐Scholz,et al. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency , 2003, Human mutation.
[28] S. Cederbaum. Phenylketonuria: an update. , 2002, Current opinion in pediatrics.
[29] A. de la Chapelle,et al. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. , 1995, Journal of medical genetics.
[30] P. Guldberg,et al. Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias , 1993, Journal of Inherited Metabolic Disease.
[31] C. Scriver. Phenylketonuria--genotypes and phenotypes. , 1991, The New England journal of medicine.
[32] N. Blau,et al. The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. , 2011, Molecular genetics and metabolism.
[33] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[34] Dong-hwan Lee,et al. Frequency and distribution of phenylketonuric mutations in orientals , 1992, Human mutation.