Woods CG - 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: woods cg. 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. Among authors: woods cg. 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

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG. Hampshire DJ, et al. Among authors: woods cg. Eur J Hum Genet. 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577. Eur J Hum Genet. 2006. PMID: 16493448

4

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: woods cg. 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.

5

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: woods cg. 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.

6

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. Nicholas AK, et al. Among authors: woods cg. J Med Genet. 2009 Apr;46(4):249-53. doi: 10.1136/jmg.2008.062380. Epub 2008 Nov 21. J Med Genet. 2009. PMID: 19028728 Free PMC article.

7

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. Among authors: woods cg. Eur J Hum Genet. 1999 Oct-Nov;7(7):815-20. doi: 10.1038/sj.ejhg.5200385. Eur J Hum Genet. 1999. PMID: 10573015

8

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: woods cg. Am J Hum Genet. 2000 Feb;66(2):724-7. doi: 10.1086/302777. Am J Hum Genet. 2000. PMID: 10677332 Free PMC article.

9

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: woods cg. 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.

10

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Among authors: woods cg. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.

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