Cau M - Search Results

1

Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.

Melis M, Cau M, Corraine S, Secci S, Addis M, Melis M. Melis M, et al. Among authors: cau m. Cerebrovasc Dis. 2014;38(4):311-2. doi: 10.1159/000368215. Epub 2014 Nov 20. Cerebrovasc Dis. 2014. PMID: 25413039 No abstract available.

2

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

3

Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.

Addis M, Serrenti M, Meloni C, Cau M, Melis MA. Addis M, et al. Among authors: cau m. Genet Test Mol Biomarkers. 2012 Dec;16(12):1428-31. doi: 10.1089/gtmb.2012.0218. Epub 2012 Oct 2. Genet Test Mol Biomarkers. 2012. PMID: 23030650

4

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

5

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

6

The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion-dependent thalassemias.

Cau M, Danjou F, Chessa R, Serrenti M, Addis M, Barella S, Origa R. Cau M, et al. Am J Hematol. 2015 Dec;90(12):E225-6. doi: 10.1002/ajh.24197. Epub 2015 Nov 17. Am J Hematol. 2015. PMID: 26385264 Free article. No abstract available.

7

A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.

Cau M, Boccone L, Mateddu A, Addis M, Serrenti M, Chessa R, Marrosu G, Loudianos G, Melis MA. Cau M, et al. Gene. 2012 Dec 15;511(2):437-40. doi: 10.1016/j.gene.2012.09.037. Epub 2012 Sep 28. Gene. 2012. PMID: 23026216

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

Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.

Cau M, Cao A, Loi D, Puddu A, Muntoni F, Mateddu A, Melis MA. Cau M, et al. Hum Mutat. 1998;12(1):70. doi: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G. Hum Mutat. 1998. PMID: 10627134

10

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.

Melis MA, Muntoni F, Cau M, Loi D, Puddu A, Boccone L, Mateddu A, Cianchetti C, Cao A. Melis MA, et al. Among authors: cau m. Hum Mutat. 1998;Suppl 1:S137-8. doi: 10.1002/humu.1380110146. Hum Mutat. 1998. PMID: 9452067 No abstract available.

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