Bonthron DT - Search Results

1

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

Batstone PJ, Simpson S, Bonthron DT, Keng WT, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D. Batstone PJ, et al. Among authors: bonthron dt. Am J Med Genet A. 2003 Apr 30;118A(3):241-6. doi: 10.1002/ajmg.a.10204. Am J Med Genet A. 2003. PMID: 12673654

2

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Bonthron DT, Smith SJ, Fantes J, Gosden CM. Bonthron DT, et al. Am J Hum Genet. 1993 Sep;53(3):629-37. Am J Hum Genet. 1993. PMID: 8352273 Free PMC article.

3

A locus for isolated cleft palate, located on human chromosome 2q32.

Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR. Brewer CM, et al. Among authors: bonthron dt. Am J Hum Genet. 1999 Aug;65(2):387-96. doi: 10.1086/302498. Am J Hum Genet. 1999. PMID: 10417281 Free PMC article.

4

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

Strain L, Wright AF, Bonthron DT. Strain L, et al. Among authors: bonthron dt. J Med Genet. 1997 Jul;34(7):535-40. doi: 10.1136/jmg.34.7.535. J Med Genet. 1997. PMID: 9222959 Free PMC article.

5

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

Jouet M, Strain L, Bonthron D, Kenwrick S. Jouet M, et al. J Med Genet. 1996 Mar;33(3):248-50. doi: 10.1136/jmg.33.3.248. J Med Genet. 1996. PMID: 8728703 Free PMC article.

6

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Watson CM, et al. Among authors: bonthron dt. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. J Med Genet. 2016. PMID: 26733463 Free PMC article.

7

Parental origin of transcription from the human GNAS1 gene.

Campbell R, Gosden CM, Bonthron DT. Campbell R, et al. Among authors: bonthron dt. J Med Genet. 1994 Aug;31(8):607-14. doi: 10.1136/jmg.31.8.607. J Med Genet. 1994. PMID: 7815417 Free PMC article.

8

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

Strain L, Gosden CM, Brock DJ, Bonthron DT. Strain L, et al. Among authors: bonthron dt. Am J Hum Genet. 1994 Feb;54(2):236-43. Am J Hum Genet. 1994. PMID: 8304340 Free PMC article.

9

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M. Carr IM, et al. Among authors: bonthron dt. PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912880 Free PMC article.

10

A human parthenogenetic chimaera.

Strain L, Warner JP, Johnston T, Bonthron DT. Strain L, et al. Among authors: bonthron dt. Nat Genet. 1995 Oct;11(2):164-9. doi: 10.1038/ng1095-164. Nat Genet. 1995. PMID: 7550344

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