Naom IS - Search Results

1

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

2

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

3

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F. Sewry CA, et al. Neuromuscul Disord. 1997 May;7(3):169-75. doi: 10.1016/s0960-8966(97)00425-2. Neuromuscul Disord. 1997. PMID: 9185180

4

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.

Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. Naom I, et al. Neuromuscul Disord. 1997 May;7(3):176-9. doi: 10.1016/s0960-8966(97)00448-3. Neuromuscul Disord. 1997. PMID: 9185181

5

Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.

Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F. Sewry CA, et al. Neuropediatrics. 1997 Aug;28(4):217-22. doi: 10.1055/s-2007-973703. Neuropediatrics. 1997. PMID: 9309712

6

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.

Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F. Naom I, et al. Neuromuscul Disord. 1998 Oct;8(7):495-501. doi: 10.1016/s0960-8966(98)00065-0. Neuromuscul Disord. 1998. PMID: 9829280

7

Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F. D'Alessandro M, et al. Hum Genet. 1999 Oct;105(4):308-13. doi: 10.1007/s004399900093. Hum Genet. 1999. PMID: 10543397

8

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

Mercuri E, Gruter-Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Jensen A, Naom I, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 1999 Oct;9(6-7):383-7. doi: 10.1016/s0960-8966(99)00034-6. Neuromuscul Disord. 1999. PMID: 10545041

9

Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.

Naom I, D'alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F. Naom I, et al. Brain. 2000 Jan;123 ( Pt 1):31-41. doi: 10.1093/brain/123.1.31. Brain. 2000. PMID: 10611118

10

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Brockington M, et al. Am J Hum Genet. 2000 Feb;66(2):428-35. doi: 10.1086/302775. Am J Hum Genet. 2000. PMID: 10677302 Free PMC article.

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