Dubowitz V - Search Results

1

Gene deletions in spinal muscular atrophy.

Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE. Rodrigues NR, et al. Among authors: dubowitz v. J Med Genet. 1996 Feb;33(2):93-6. doi: 10.1136/jmg.33.2.93. J Med Genet. 1996. PMID: 8929942 Free PMC article.

2

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Rodrigues NR, et al. Among authors: dubowitz v. Hum Mol Genet. 1995 Apr;4(4):631-4. doi: 10.1093/hmg/4.4.631. Hum Mol Genet. 1995. PMID: 7633412

3

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Daniels RJ, Campbell L, Rodrigues NR, Francis MJ, Morrison KE, McLean M, MacKenzie A, Ignatius J, Dubowitz V, Davies KE. Daniels RJ, et al. Among authors: dubowitz v. J Med Genet. 1995 Feb;32(2):93-6. doi: 10.1136/jmg.32.2.93. J Med Genet. 1995. PMID: 7760328 Free PMC article.

4

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).

Morrison KE, Daniels RJ, Suthers GK, Flynn GA, Francis MJ, Grewal PK, Dennis C, Buckle V, Ignatius J, Dubowitz V, et al. Morrison KE, et al. Among authors: dubowitz v. Hum Genet. 1993 Sep;92(2):133-8. doi: 10.1007/BF00219680. Hum Genet. 1993. PMID: 8370578

5

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Campbell L, et al. Among authors: dubowitz v. Am J Hum Genet. 1997 Jul;61(1):40-50. doi: 10.1086/513886. Am J Hum Genet. 1997. PMID: 9245983 Free PMC article.

6

Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

Campbell L, Daniels RJ, Dubowitz V, Davies KE. Campbell L, et al. Among authors: dubowitz v. Am J Hum Genet. 1998 Jul;63(1):37-44. doi: 10.1086/301918. Am J Hum Genet. 1998. PMID: 9634516 Free PMC article.

7

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.

Skordis LA, Dunckley MG, Burglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F. Skordis LA, et al. Among authors: dubowitz v. Hum Genet. 2001 Apr;108(4):356-7. doi: 10.1007/s004390100497. Hum Genet. 2001. PMID: 11379882

8

Molecular studies of spinal muscular atrophy.

Davies KE, Thomas NH, Daniels RJ, Dubowitz V. Davies KE, et al. Among authors: dubowitz v. Neuromuscul Disord. 1991;1(2):83-5. doi: 10.1016/0960-8966(91)90053-u. Neuromuscul Disord. 1991. PMID: 1822785 Review.

9

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. Among authors: dubowitz v. 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.

10

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

Muntoni F, Goodwin F, Sewry C, Cox P, Cowan F, Airaksinen E, Patel S, Ignatius J, Dubowitz V. Muntoni F, et al. Among authors: dubowitz v. Neuropediatrics. 1999 Oct;30(5):243-8. doi: 10.1055/s-2007-973498. Neuropediatrics. 1999. PMID: 10598835

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