Marie SK - Search Results

1

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

Zatz M, Passos-Bueno MR, Cerqueira A, Marie SK, Vainzof M, Pavanello RC. Zatz M, et al. Among authors: marie sk. Hum Mol Genet. 1995 Mar;4(3):401-6. doi: 10.1093/hmg/4.3.401. Hum Mol Genet. 1995. PMID: 7795594

2

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

Passos-Bueno MR, Oliveira JR, Bakker E, Anderson RD, Marie SK, Vainzof M, Roberds S, Campbell KP, Zatz M. Passos-Bueno MR, et al. Among authors: marie sk. Hum Mol Genet. 1993 Nov;2(11):1945-7. doi: 10.1093/hmg/2.11.1945. Hum Mol Genet. 1993. PMID: 8281158

3

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.

Passos-Bueno MR, Bakker E, Marie SK, Pavanello RC, Vainzof M, Carvalho AA, Cohen D, Beckmann J, Zatz M. Passos-Bueno MR, et al. Among authors: marie sk. Hum Mol Genet. 1993 Feb;2(2):201-2. doi: 10.1093/hmg/2.2.201. Hum Mol Genet. 1993. PMID: 8499908 No abstract available.

4

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.

Passos-Bueno MR, Wijmenga C, Takata RE, Marie SK, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J, et al. Passos-Bueno MR, et al. Among authors: marie sk. Hum Mol Genet. 1993 May;2(5):557-62. doi: 10.1093/hmg/2.5.557. Hum Mol Genet. 1993. PMID: 8518794

5

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M. Bueno MR, et al. Among authors: marie sk. Hum Mol Genet. 1995 Jul;4(7):1163-7. doi: 10.1093/hmg/4.7.1163. Hum Mol Genet. 1995. PMID: 8528203

6

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD.

Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Passos-Bueno MR, et al. Among authors: marie sk. Hum Mol Genet. 1996 Jun;5(6):815-20. doi: 10.1093/hmg/5.6.815. Hum Mol Genet. 1996. PMID: 8776597

7

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.

Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M. Vainzof M, et al. Among authors: marie sk. Hum Mol Genet. 1996 Dec;5(12):1963-9. doi: 10.1093/hmg/5.12.1963. Hum Mol Genet. 1996. PMID: 8968750

8

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. Moreira ES, et al. Among authors: marie sk. Am J Hum Genet. 1997 Jul;61(1):151-9. doi: 10.1086/513889. Am J Hum Genet. 1997. PMID: 9245996 Free PMC article.

9

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.

Zatz M, Marie SK, Cerqueira A, Vainzof M, Pavanello RC, Passos-Bueno MR. Zatz M, et al. Among authors: marie sk. Am J Med Genet. 1998 May 1;77(2):155-61. Am J Med Genet. 1998. PMID: 9605290

10

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R. Zatz M, et al. Among authors: marie sk. Am J Hum Genet. 1995 Jan;56(1):99-105. Am J Hum Genet. 1995. PMID: 7825608 Free PMC article.

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