Abbs S - Search Results

1

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.

Becker K, Robb SA, Hatton Z, Yau SC, Abbs S, Roberts RG. Becker K, et al. Among authors: abbs s. Hum Mutat. 2003 Jun;21(6):651. doi: 10.1002/humu.9143. Hum Mutat. 2003. PMID: 14961551

2

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability.

Hodgson SV, Abbs S, Clark S, Manzur A, Heckmatt JZ, Dubowitz V, Bobrow M. Hodgson SV, et al. Among authors: abbs s. Neuromuscul Disord. 1992;2(4):269-76. doi: 10.1016/0960-8966(92)90059-f. Neuromuscul Disord. 1992. PMID: 1483053

We were able to ascertain a series of boys [from this study and a previous one (Hodgson S V, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. ...

We were able to ascertain a series of boys [from this study and a previous one (Hodgson S V, Hart K, Abbs S, et al. Cor …

3

Investigation of a female manifesting Becker muscular dystrophy.

Glass IA, Nicholson LV, Watkiss E, Johnson MA, Roberts RG, Abbs S, Brittain-Jones S, Boddie HG. Glass IA, et al. Among authors: abbs s. J Med Genet. 1992 Aug;29(8):578-82. doi: 10.1136/jmg.29.8.578. J Med Genet. 1992. PMID: 1518025 Free PMC article.

4

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, et al. van Essen AJ, et al. Among authors: abbs s. Hum Genet. 1992 Jan;88(3):249-57. doi: 10.1007/BF00197255. Hum Genet. 1992. PMID: 1733826

5

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M. Abbs S, et al. J Med Genet. 1991 May;28(5):304-11. doi: 10.1136/jmg.28.5.304. J Med Genet. 1991. PMID: 1865467 Free PMC article.

6

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M. Abbs S, et al. Genomics. 1990 Aug;7(4):602-6. doi: 10.1016/0888-7543(90)90205-9. Genomics. 1990. PMID: 1974880

7

Molecular deletions in the Duchenne/Becker muscular dystrophy gene.

Hart KA, Abbs S, Wapenaar MC, Cole CG, Hodgson SV, Bobrow M. Hart KA, et al. Among authors: abbs s. Clin Genet. 1989 Apr;35(4):251-60. doi: 10.1111/j.1399-0004.1989.tb02939.x. Clin Genet. 1989. PMID: 2653672 Review.

8

Pathogenic and nonpathogenic deletions in two families with Duchenne muscular dystrophy.

Hart KA, Abbs S, Bobrow M. Hart KA, et al. Among authors: abbs s. Am J Med Genet. 1989 May;33(1):142-5. doi: 10.1002/ajmg.1320330123. Am J Med Genet. 1989. PMID: 2750784

9

Deletions in the 5' region of dystrophin and resulting phenotypes.

Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R, Hodgson SV, Bobrow M, et al. Muntoni F, et al. Among authors: abbs s. J Med Genet. 1994 Nov;31(11):843-7. doi: 10.1136/jmg.31.11.843. J Med Genet. 1994. PMID: 7853367 Free PMC article.

10

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Yau SC, Bobrow M, Mathew CG, Abbs SJ. Yau SC, et al. Among authors: abbs sj. J Med Genet. 1996 Jul;33(7):550-8. doi: 10.1136/jmg.33.7.550. J Med Genet. 1996. PMID: 8818939 Free PMC article.

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