Analbuminemia causing mutation reference list

 

1. Ruffner, D. E. & Dugaiczyk, A. (1988) Splicing mutation in human hereditary analbuminemia. Proc.Natl.Acad.Sci.U S A. Apr;85(7), 2125-2129.

2. Watkins, S., Madison, J., Galliano, M., Minchiotti, L. & Putnam, F. W. (1994) A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc.Natl.Acad.Sci.U S A. Mar 15;91(6), 2275-2279.

3. Watkins, S., Madison, J., Galliano, M., Minchiotti, L. & Putnam, F. W. (1994) Analbuminemia: three cases resulting from different point mutations in the albumin gene. Proc.Natl.Acad.Sci.U S A. Sep 27;91(20), 9417-9421.

4. Campagnoli, M., Rossi, A., Palmqvist, L., Flisberg, A., Niklasson, A., Minchiotti, L., & Galliano, M. (2002) A novel splicing mutation.causes an undescribed type of analbuminemia. Biochim.Biophys.Acta 1586, 43-49.

5. Galliano, M., Campagnoli, M., Rossi, A., Wirsing von Konig, C. H., Lyon, A.W., Cefle, K., Yildiz, A., Palanduz, S., Ozturk, S. & Minchiotti, L. (2002) Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin.Chem. 6 (pt1), 844-849.

6. Campagnoli, M., Sala, A., Romano, A., Rossi, A., Nauta, J., Koot, B. G., Minchiotti, L. & Galliano, M. (2005) A novel non-sense mutation causes analbuminemia in a Moroccan family. Clin.Chem. Jan; 51, 227-229.

7. Campagna, F., Fioretti, F., Burattin, M., Romeo, S., Sentinelli, F., Bifolco, M., Sirinian, M. I., Del Ben, M., Angelico, F. & Arca, M. (2005) Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. Clin.Chem. Jul;51(7), 1256-1258.

8. Dolcini, L., Caridi, G., Dagnino, M., Sala, A., Gokce, S., Sokucu, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2007) Analbuminemia produced by a novel splicing mutation. Clin.Chem. 53 (8), 1549-1552.

9. Caridi, G., Dagnino, M., Dalgic, B., Egritas, O., Sancak, B., Campagnoli, M., Dolcini, L., Galliano M. & Minchiotti, L. (2008) Analbuminemia Zonguldak: case report and mutational analysis. Clin.Biochem. Mar;41(4-5), 288-291.

10. Davis, R.L., Peters, T. Jr. & Brennan, S. O. (2008) Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification. Clin.Biochem. Dec;41(18), 1482-1485.

11. Caridi, G., Kacem, M., Campagnoli, M., Dagnino, M., Debbabi, W., Kochtali, I., Neffati, F., Galliano, M. & Minchiotti, L. (2009) A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. Clin.Chem.Lab.Med. 47(10), 1311-1313.

12. Dagnino, M., Caridi, G., Marsciani, M., Bettocchi, I., Tassinari, D., Bernardi, F., Chiodo, F., Campagnoli, M., Galliano, M. & Minchiotti, L. (2010) A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient. Eur.J.Clin.Invest. Mar;40(3), 281-284.

13. Dagnino, M., Caridi, G., Aydin, Z., Ozturk, S., Karaal,i Z., Kazancioglu, R., Cefle, K., Gursu, M., Campagnoli, M., Galliano, M. & Minchiotti, L. (2010) A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. Clin.Chim.Acta. Nov 11;411(21-22), 1711-1715.

14. Ruhoff, M. S., Greene, M. W. & Peters T. (2010) Location of the mutation site in the first two reported cases of analbuminemia. Clin.Biochem. Mar;43(4-5), 525-527.

15. Caridi, G., Dagnino, M., Di Duca, M., Pinto, H., Espinheira Mdo, C., Guerra, A., Fernandes, S., Campagnoli, M., Galliano, M. & Minchiotti L. (2012) A novel splicing mutation causes analbuminemia in a Portuguese boy. Mol.Genet.Metab. Mar;105(3), 479-483.

16. Caridi, G., Dagnino, M., Di Duca, M., Akyuz, F., Boztas, G., Besisik, F., Demir, K., Ormeci, A., Gokturk, S., Cefle, K., Ozturk, Ş., Palanduz, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2012) A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man. Clin.Chim.Acta. May 18;413(9-10), 950-951.

17. Bibi, A., Jouini, L., Sahli, C. A., Hadj Fredj, S., Abidi, K., Gharsallah, L., Mathlouthi, S., Ouali, F., Siala, H., Belhaj, R., Sammoud, A. & Messaoud, T. (2012) Detection of a novel splicing mutation causing analbuminemia in a Libyan family. Clin.Biochem. Oct;45(15), 1183-1186.

18. Caridi, G., Dagnino, M., Lugani, F., Shalev, S. A., Campagnoli, M., Galliano, M., Spiegel, R. & Minchiott,i L. (2013) A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. Eur.J. Clin.Invest. Jan;43(1), 72-78.

19. Caridi, G., Dagnino, M., Erdeve, O., Di Duca, M., Yildiz, D., Alan, S., Atasay, B., Arsan, S., Campagnoli, M., Galliano, M. & Minchiotti, L. (2014) Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. Biochem.Med (Zagreb). Feb 15;24(1), 151-158.

20. Caridi, G., Thomas, W., Campagnoli, M., Lugani, F., Galliano, M. & Minchiotti, L. (2016) A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant. Ann. Clin. Biochem. In press.

21. Caridi, G., Yilmaz Gulec, E., Campagnoli, M., Lugani, F., Onal, H., Kilic, D., Galliano, M. & Minchiotti, L. (2016) A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. Biochem. Med. (Zagreb). In press.