Abbs SJ[au] - Search Results

Year	Number of Results
1992	1
1996	1
1997	1
1998	1
1999	2
2001	1
2006	1
2007	1
2008	1
2024	0

1

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.

2

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

3

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis.

Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. Mann K, et al. Among authors: abbs sj. Lancet. 2001 Sep 29;358(9287):1057-61. doi: 10.1016/S0140-6736(01)06183-9. Lancet. 2001. PMID: 11589937

4

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, Eady RA, McGrath JA. Whittock NV, et al. Among authors: abbs sj. J Invest Dermatol. 1999 Oct;113(4):673-86. doi: 10.1046/j.1523-1747.1999.00732.x. J Invest Dermatol. 1999. PMID: 10504458 Free article.

5

Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family.

Smith TA, Yau SC, Bobrow M, Abbs SJ. Smith TA, et al. Among authors: abbs sj. J Med Genet. 1999 Apr;36(4):313-5. J Med Genet. 1999. PMID: 10227400 Free PMC article.

6

Dystrophin point mutation screening using a multiplexed protein truncation test.

Whittock NV, Roberts RG, Mathew CG, Abbs SJ. Whittock NV, et al. Among authors: abbs sj. Genet Test. 1997;1(2):115-23. doi: 10.1089/gte.1997.1.115. Genet Test. 1997. PMID: 10464635

7

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

8

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

9

Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.

Cole CG, Abbs SJ, Dubowitz V, Hodgson SV, Warner J, Merlini L, Bobrow M. Cole CG, et al. Among authors: abbs sj. Neuromuscul Disord. 1992;2(1):51-7. doi: 10.1016/0960-8966(92)90027-4. Neuromuscul Disord. 1992. PMID: 1525559

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