Congiu R - Search Results

1

Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.

Cao A, Congiu R, Sollaino MC, Desogus MF, Demartis FR, Loi D, Cau M, Galanello R. Cao A, et al. Among authors: congiu r. Community Genet. 2008;11(3):121-8. doi: 10.1159/000113873. Epub 2008 Mar 26. Community Genet. 2008. PMID: 18376107

2

Red cell pyruvate kinase deficiency in Southern Sardinia.

Perseu L, Giagu N, Satta S, Sollaino MC, Congiu R, Galanello R. Perseu L, et al. Among authors: congiu r. Blood Cells Mol Dis. 2010 Dec 15;45(4):280-3. doi: 10.1016/j.bcmd.2010.08.006. Epub 2010 Sep 25. Blood Cells Mol Dis. 2010. PMID: 20870434

3

Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.

Melis MA, Cau M, Congiu R, Ruvoletto L, Cao A, Galanello R. Melis MA, et al. Among authors: congiu r. Genet Test. 2002 Winter;6(4):327-9. doi: 10.1089/10906570260471886. Genet Test. 2002. PMID: 12537659

4

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.

Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A. Melis MA, et al. Among authors: congiu r. Clin Genet. 1993 May;43(5):247-9. doi: 10.1111/j.1399-0004.1993.tb03811.x. Clin Genet. 1993. PMID: 8375105

5

Identification of a novel T-insertion polymorphism at the DMD locus.

Muntoni F, Cau M, Congiu R, Congia M, Cao A, Melis MA. Muntoni F, et al. Among authors: congiu r. Hum Genet. 1993 Aug;92(1):103. doi: 10.1007/BF00216157. Hum Genet. 1993. PMID: 8396066

6

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Cau M, et al. Among authors: congiu r. J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6. J Hum Genet. 2006. PMID: 16955230

7

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.

Muntoni F, Mateddu A, Marrosu MG, Cau M, Congiu R, Melis MA, Cao A, Cianchetti C. Muntoni F, et al. Among authors: congiu r. Clin Genet. 1992 Jul;42(1):35-8. doi: 10.1111/j.1399-0004.1992.tb03133.x. Clin Genet. 1992. PMID: 1355417

8

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

Melis MA, Cau M, Congiu R, Sole G, Barella S, Cao A, Westerman M, Cazzola M, Galanello R. Melis MA, et al. Among authors: congiu r. Haematologica. 2008 Oct;93(10):1473-9. doi: 10.3324/haematol.13342. Epub 2008 Jul 4. Haematologica. 2008. PMID: 18603562 Free article.

9

Diagnosis of DMD carrier status in a family with no known affected males.

Muntoni F, Mateddu A, Cau M, Congiu R, Puddu R, Cossu P, Cao A, Melis MA. Muntoni F, et al. Among authors: congiu r. Dev Med Child Neurol. 1993 Jan;35(1):70-3. doi: 10.1111/j.1469-8749.1993.tb11554.x. Dev Med Child Neurol. 1993. PMID: 8095479

10

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

Addis M, Meloni C, Congiu R, Santaniello S, Emma F, Zuffardi O, Ciccone R, Cao A, Melis MA, Cau M. Addis M, et al. Among authors: congiu r. Eur J Med Genet. 2007 Jan-Feb;50(1):79-84. doi: 10.1016/j.ejmg.2006.10.003. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17142121

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