Roberts EJ - Search Results

1

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

Willing MC, Deschenes SP, Slayton RL, Roberts EJ. Willing MC, et al. Among authors: roberts ej. Am J Hum Genet. 1996 Oct;59(4):799-809. Am J Hum Genet. 1996. PMID: 8808594 Free PMC article.

2

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Willing MC, et al. Among authors: roberts ej. Am J Hum Genet. 1994 Oct;55(4):638-47. Am J Hum Genet. 1994. PMID: 7942841 Free PMC article.

3

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. 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.

4

No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms.

Craddock N, Daniels J, Roberts E, Rees M, McGuffin P, Owen MJ. Craddock N, et al. Am J Med Genet. 1995 Aug 14;60(4):322-4. doi: 10.1002/ajmg.1320600412. Am J Med Genet. 1995. PMID: 7485269

5

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

Aldred MJ, Crawford PJ, Roberts E, Thomas NS. Aldred MJ, et al. Hum Genet. 1992 Dec;90(4):413-6. doi: 10.1007/BF00220469. Hum Genet. 1992. PMID: 1483698

6

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

7

The gene for Darier's disease maps between D12S78 and D12S79.

Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. Parfitt E, et al. Hum Mol Genet. 1994 Jan;3(1):35-8. doi: 10.1093/hmg/3.1.35. Hum Mol Genet. 1994. PMID: 7512859

8

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. 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.

9

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Woods CG, et al. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.

10

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

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