Huson S - Search Results

1

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Horsley SW, Knight SJ, Nixon J, Huson S, Fitchett M, Boone RA, Hilton-Jones D, Flint J, Kearney L. Horsley SW, et al. Among authors: huson s. J Med Genet. 1998 Sep;35(9):722-6. doi: 10.1136/jmg.35.9.722. J Med Genet. 1998. PMID: 9733029 Free PMC article.

2

Interstitial deletion of band 3q25.

Slavotinek AM, Huson SM, Fitchett M. Slavotinek AM, et al. Among authors: huson sm. J Med Genet. 1997 May;34(5):430-2. doi: 10.1136/jmg.34.5.430. J Med Genet. 1997. PMID: 9152845 Free PMC article.

3

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

Fewtrell MS, Tam PK, Thomson AH, Fitchett M, Currie J, Huson SM, Mulligan LM. Fewtrell MS, et al. Among authors: huson sm. J Med Genet. 1994 Apr;31(4):325-7. doi: 10.1136/jmg.31.4.325. J Med Genet. 1994. PMID: 7915329 Free PMC article. Review.

4

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.

Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. Wilkie AO, et al. Among authors: huson sm. Am J Med Genet. 1993 Jun 15;46(5):597-600. doi: 10.1002/ajmg.1320460527. Am J Med Genet. 1993. PMID: 8322827 Review.

5

Molecular studies of the fragile X syndrome.

Knight SJ, Hirst MC, Roche A, Christodoulou Z, Huson SM, Winter R, Fitchett M, McKinley MJ, Lindenbaum RH, Nakahori Y, et al. Knight SJ, et al. Among authors: huson sm. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):217-23. doi: 10.1002/ajmg.1320430135. Am J Med Genet. 1992. PMID: 1605194

6

Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example.

Nixon J, Cockburn D, Hopkin J, Seller A, Huson SM. Nixon J, et al. Among authors: huson sm. Clin Genet. 2002 Jul;62(1):29-38. doi: 10.1034/j.1399-0004.2002.620104.x. Clin Genet. 2002. PMID: 12123485

7

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM. Slavotinek A, et al. Among authors: huson sm. J Med Genet. 1997 Oct;34(10):857-61. doi: 10.1136/jmg.34.10.857. J Med Genet. 1997. PMID: 9350823 Free PMC article.

8

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

Barnes PR, Kanabar DJ, Brueton L, Newsom-Davis J, Huson SM, Mann NP, Hilton-Jones D. Barnes PR, et al. Among authors: huson sm. Neuromuscul Disord. 1995 Jan;5(1):59-65. doi: 10.1016/0960-8966(94)e0029-8. Neuromuscul Disord. 1995. PMID: 7719143

9

A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map.

Markie D, Huson S, Maher E, Davies A, Tomlinson I, Bodmer WF. Markie D, et al. Among authors: huson s. Hum Genet. 1996 Aug;98(2):125-8. doi: 10.1007/s004390050173. Hum Genet. 1996. PMID: 8698325

10

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

Brueton LA, Barber JC, Huson SM, Winter RM. Brueton LA, et al. Among authors: huson sm. J Med Genet. 1989 Nov;26(11):729-30. doi: 10.1136/jmg.26.11.729. J Med Genet. 1989. PMID: 2479748 Free PMC article. Review.

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