Melis MA - Search Results

1

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

2

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: melis ma. Clin Genet. 1992 Jul;42(1):35-8. doi: 10.1111/j.1399-0004.1992.tb03133.x. Clin Genet. 1992. PMID: 1355417

3

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: melis ma. 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

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

5

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Muntoni F, Mateddu A, Cianchetti C, Marrosu MG, Clerk A, Cau M, Congiu R, Cao A, Melis MA. Muntoni F, et al. Among authors: melis ma. J Neurol Neurosurg Psychiatry. 1993 Jan;56(1):26-31. doi: 10.1136/jnnp.56.1.26. J Neurol Neurosurg Psychiatry. 1993. PMID: 8429320 Free PMC article.

6

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. Among authors: melis ma. 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

7

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.

Muntoni F, Melis MA, Ganau A, Dubowitz V. Muntoni F, et al. Among authors: melis ma. Am J Hum Genet. 1995 Jan;56(1):151-7. Am J Hum Genet. 1995. PMID: 7825571 Free PMC article.

8

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. Hum Mutat. 1998;Suppl 1:S137-8. doi: 10.1002/humu.1380110146. Hum Mutat. 1998. PMID: 9452067 No abstract available.

9

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.

Melis MA, Cau M, Muntoni F, Mateddu A, Galanello R, Boccone L, Deidda F, Loi D, Cao A. Melis MA, et al. Eur J Paediatr Neurol. 1998;2(5):255-61. doi: 10.1016/s1090-3798(98)80039-1. Eur J Paediatr Neurol. 1998. PMID: 10726828

10

Fetal hydrops in Sardinia: implications for genetic counselling.

Galanello R, Sanna MA, Maccioni L, Gasperini D, Melis MA, Rosatelli C, Monni G, Cao A. Galanello R, et al. Among authors: melis ma. Clin Genet. 1990 Nov;38(5):327-31. doi: 10.1111/j.1399-0004.1990.tb03590.x. Clin Genet. 1990. PMID: 2282712

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