Abbs SJ - Search Results

1

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG. Taylor JE, et al. Among authors: abbs sj. Eur J Hum Genet. 1998 Sep-Oct;6(5):467-74. doi: 10.1038/sj.ejhg.5200210. Eur J Hum Genet. 1998. PMID: 9801871

2

Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.

Ellis D, Patel Y, Yau SC, Hodgson SV, Abbs SJ. Ellis D, et al. Among authors: abbs sj. Fam Cancer. 2006;5(4):323-6. doi: 10.1007/s10689-006-0001-0. Epub 2006 May 25. Fam Cancer. 2006. PMID: 16724249

3

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Ashton EJ, Yau SC, Deans ZC, Abbs SJ. Ashton EJ, et al. Among authors: abbs sj. Eur J Hum Genet. 2008 Jan;16(1):53-61. doi: 10.1038/sj.ejhg.5201916. Epub 2007 Aug 29. Eur J Hum Genet. 2008. PMID: 17726484

4

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP. Nixon TRW, et al. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19. Eur J Hum Genet. 2019. PMID: 30568244 Free PMC article.

5

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P. Jurkute N, et al. Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. Eur J Hum Genet. 2019. PMID: 30143805 Free PMC article. No abstract available.

6

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, Woodward KJ, Andrews RM, Langford C, Vetrie D. Dhami P, et al. Am J Hum Genet. 2005 May;76(5):750-62. doi: 10.1086/429588. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756638 Free PMC article.

7

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy.

Daniels G, Pettigrew R, Thornhill A, Abbs S, Lashwood A, O'Mahony F, Mathew C, Handyside A, Braude P. Daniels G, et al. Mol Hum Reprod. 2001 Oct;7(10):995-1000. doi: 10.1093/molehr/7.10.995. Mol Hum Reprod. 2001. PMID: 11574669

8

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

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

9

Report on the 16th ENMC workshop--carrier diagnosis of Duchenne and Becker muscular dystrophy.

Abbs S, Bobrow M. Abbs S, et al. Neuromuscul Disord. 1993 May;3(3):241-2. doi: 10.1016/0960-8966(93)90066-s. Neuromuscul Disord. 1993. PMID: 8400866 No abstract available.

10

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. 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.

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