Thompson EM - Search Results

1

Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.

Brueton LA, Huson SM, Cox PM, Shirley I, Thompson EM, Barnes PR, Price J, Newsom-Davis J, Vincent A. Brueton LA, et al. Among authors: thompson em. Am J Med Genet. 2000 May 1;92(1):1-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h. Am J Med Genet. 2000. PMID: 10797415

2

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM. Brueton LA, et al. Among authors: thompson em. Am J Med Genet. 1992 Jun 1;43(3):612-8. doi: 10.1002/ajmg.1320430322. Am J Med Genet. 1992. PMID: 1605259

3

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: thompson em. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.

4

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Zhao F, et al. Among authors: thompson em. Am J Hum Genet. 2001 Oct;69(4):695-703. doi: 10.1086/323410. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505339 Free PMC article.

5

Dysmorphic syndromes with demonstrable biochemical abnormalities.

Clayton PT, Thompson E. Clayton PT, et al. J Med Genet. 1988 Jul;25(7):463-72. doi: 10.1136/jmg.25.7.463. J Med Genet. 1988. PMID: 3050094 Free PMC article. Review.

6

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. Saxena A, et al. J Med Genet. 2006 Jun;43(6):470-7. doi: 10.1136/jmg.2005.036244. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155192 Free PMC article.

7

Necropsy findings in a child with FG syndrome.

Thompson EM, Harding BN, Lake BD, Smith SC. Thompson EM, et al. J Med Genet. 1986 Aug;23(4):372-3. doi: 10.1136/jmg.23.4.372. J Med Genet. 1986. PMID: 3746847 Free PMC article. No abstract available.

8

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A. Gill H, et al. Among authors: thompson em. J Med Genet. 2003 May;40(5):380-4. doi: 10.1136/jmg.40.5.380. J Med Genet. 2003. PMID: 12746405 Free PMC article. No abstract available.

9

Is there a monosomy 10qter syndrome?

Mulcahy MT, Pemberton PJ, Thompson E, Watson M. Mulcahy MT, et al. Clin Genet. 1982 Jan;21(1):33-5. doi: 10.1111/j.1399-0004.1982.tb02076.x. Clin Genet. 1982. PMID: 7067162 No abstract available.

10

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J. Gedeon AK, et al. Among authors: thompson em. Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976. Nat Genet. 1999. PMID: 10431248

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