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“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