Cau M - Search Results

1

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. 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

2

OCRL mutation analysis in Italian patients with Lowe syndrome.

Addis M, Loi M, Lepiani C, Cau M, Melis MA. Addis M, et al. Among authors: cau m. Hum Mutat. 2004 May;23(5):524-5. doi: 10.1002/humu.9239. Hum Mutat. 2004. PMID: 15108291

3

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: cau m. 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

4

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: cau m. Haematologica. 2008 Oct;93(10):1473-9. doi: 10.3324/haematol.13342. Epub 2008 Jul 4. Haematologica. 2008. PMID: 18603562 Free article.

5

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3).

Nucaro AL, Melis P, Casini MR, Rossino R, Cau M, Melis MA, Loche S. Nucaro AL, et al. Among authors: cau m. J Appl Genet. 2008;49(3):301-3. doi: 10.1007/BF03195627. J Appl Genet. 2008. PMID: 18670067

6

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA. Cau M, et al. Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454328

7

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: cau m. Clin Genet. 1993 May;43(5):247-9. doi: 10.1111/j.1399-0004.1993.tb03811.x. Clin Genet. 1993. PMID: 8375105

8

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: cau m. Hum Genet. 1993 Aug;92(1):103. doi: 10.1007/BF00216157. Hum Genet. 1993. PMID: 8396066

9

H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.

Melis MA, Cau M, Deidda F, Barella S, Cao A, Galanello R. Melis MA, et al. Among authors: cau m. Haematologica. 2002 Mar;87(3):242-5. Haematologica. 2002. PMID: 11869934

10

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: cau m. Genet Test. 2002 Winter;6(4):327-9. doi: 10.1089/10906570260471886. Genet Test. 2002. PMID: 12537659

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

68 results

Search Page

Filters