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2010
R. Marquis-Nicholson, Glamuzina, E., Prosser, D., Wilson, C., and Love, D. R., Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis, vol. 9. pp. 1483-1489, 2010.
Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, et al. (2008). The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am. J. Med. Genet. A 146A: 2885-2890. http://dx.doi.org/10.1002/ajmg.a.32527 PMid:18925679 PMCid:2597641   Engel K, Hohne W and Haberle J (2009). Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum. Mutat. 30: 300-307. http://dx.doi.org/10.1002/humu.20847 PMid:19006241   Häberle J, Pauli S, Linnebank M, Kleijer WJ, et al. (2002). Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Hum. Genet. 110: 327-333. http://dx.doi.org/10.1007/s00439-002-0686-6 PMid:11941481   Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, et al. (2003). Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol. Genet. Metab. 80: 302-306. http://dx.doi.org/10.1016/j.ymgme.2003.08.002 PMid:14680976   Okayama N, Fujimura K, Nakamura J, Suehiro Y, et al. (2004). Evaluation of a new efficient procedure for single-nucleotide polymorphism genotyping: tetra-primer amplification refractory mutation system-polymerase chain reaction. Clin. Chem. Lab. Med. 42: 13-16. http://dx.doi.org/10.1515/CCLM.2004.004 PMid:15061374   Sander J, Janzen N, Sander S, Steuerwald U, et al. (2003). Neonatal screening for citrullinaemia. Eur. J. Pediatr. 162: 417-420. PMid:12684898   Waisbren SE, Albers S, Amato S, Ampola M, et al. (2003). Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290: 2564-2572. http://dx.doi.org/10.1001/jama.290.19.2564 PMid:14625333   Ye S, Dhillon S, Ke X, Collins AR, et al. (2001). An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 29: E88. http://dx.doi.org/10.1093/nar/29.17.e88 PMid:11522844 PMCid:55900