Roberts E - Search Results

1

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: roberts e. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.

2

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

3

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.

4

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.

5

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.

6

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.

7

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali LI, Lench NJ, Markham AF, Mueller RF. Pulleyn LJ, et al. Among authors: roberts e. Eur J Hum Genet. 2000 Dec;8(12):991-3. doi: 10.1038/sj.ejhg.5200567. Eur J Hum Genet. 2000. PMID: 11175289

8

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.

9

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.

10

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF. Downey LM, et al. Among authors: roberts e. Am J Hum Genet. 2001 Mar;68(3):778-81. doi: 10.1086/318790. Epub 2001 Jan 19. Am J Hum Genet. 2001. PMID: 11179025 Free PMC article.

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