Roberts E - Search Results

1

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.

Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG. Leal GF, et al. Among authors: roberts e. J Med Genet. 2003 Jul;40(7):540-2. doi: 10.1136/jmg.40.7.540. J Med Genet. 2003. PMID: 12843329 Free PMC article. No abstract available.

2

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG. Roberts E, et al. J Med Genet. 2002 Oct;39(10):718-21. doi: 10.1136/jmg.39.10.718. J Med Genet. 2002. PMID: 12362027 Free PMC article.

3

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG. Roberts E, et al. Eur J Hum Genet. 1999 Oct-Nov;7(7):815-20. doi: 10.1038/sj.ejhg.5200385. Eur J Hum Genet. 1999. PMID: 10573015

4

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. Moynihan L, et al. Among authors: roberts e. Am J Hum Genet. 2000 Feb;66(2):724-7. doi: 10.1086/302777. Am J Hum Genet. 2000. PMID: 10677332 Free PMC article.

5

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. Pattison L, et al. Among authors: roberts e. Am J Hum Genet. 2000 Dec;67(6):1578-80. doi: 10.1086/316910. Epub 2000 Nov 7. Am J Hum Genet. 2000. PMID: 11078481 Free PMC article.

6

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG. Hampshire DJ, et al. Among authors: roberts e. J Med Genet. 2001 Oct;38(10):680-2. doi: 10.1136/jmg.38.10.680. J Med Genet. 2001. PMID: 11584046 Free PMC article.

7

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. Crow YJ, et al. Among authors: roberts e. J Med Genet. 2003 Mar;40(3):183-7. doi: 10.1136/jmg.40.3.183. J Med Genet. 2003. PMID: 12624136 Free PMC article.

8

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.

Mubaidin A, Roberts E, Hampshire D, Dehyyat M, Shurbaji A, Mubaidien M, Jamil A, Al-Din A, Kurdi A, Woods CG. Mubaidin A, et al. Among authors: roberts e. J Med Genet. 2003 Jul;40(7):543-6. doi: 10.1136/jmg.40.7.543. J Med Genet. 2003. PMID: 12843330 Free PMC article. No abstract available.

9

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

Woods CG, Valente EM, Bond J, Roberts E. Woods CG, et al. Among authors: roberts e. J Med Genet. 2004 Aug;41(8):e101. doi: 10.1136/jmg.2003.016873. J Med Genet. 2004. PMID: 15286161 Free PMC article. No abstract available.

10

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity.

Deeble VJ, Roberts E, Jackson A, Lench N, Karbani G, Woods CG. Deeble VJ, et al. Among authors: roberts e. J Med Genet. 2000 Mar;37(3):219. doi: 10.1136/jmg.37.3.219. J Med Genet. 2000. PMID: 10777365 Free PMC article. No abstract available.

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