Trembath RC - Search Results

1

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF. Toomes C, et al. Among authors: trembath rc. Mol Vis. 2004 Jan 15;10:37-42. Mol Vis. 2004. PMID: 14737064 Free article.

2

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. Michaelides M, et al. Among authors: trembath rc. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

3

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Meyer E, et al. Among authors: trembath rc. Mol Vis. 2009 May 18;15:1014-9. Mol Vis. 2009. PMID: 19461930 Free PMC article.

4

The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.

Allen MH, Ameen H, Veal C, Evans J, Ramrakha-Jones VS, Marsland AM, Burden AD, Griffiths CE, Trembath RC, Barker JN. Allen MH, et al. Among authors: trembath rc. J Invest Dermatol. 2005 Jan;124(1):103-6. doi: 10.1111/j.0022-202X.2004.23511.x. J Invest Dermatol. 2005. PMID: 15654960 Free article.

5

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA. Morgan NV, et al. Among authors: trembath rc. Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384791 Free article.

6

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. White DR, et al. Among authors: trembath rc. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106446

7

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Huffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, Warren RB, Young HS, Worthington J, Burden AD, Griffiths CE, Hayday A, Nestle FO, Reis A, Lanchbury J, Barker JN, Trembath RC. Capon F, et al. Among authors: trembath rc. Hum Mol Genet. 2008 Jul 1;17(13):1938-45. doi: 10.1093/hmg/ddn091. Epub 2008 Mar 25. Hum Mol Genet. 2008. PMID: 18364390 Free PMC article.

8

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Meyer E, Kurian MA, Pasha S, Trembath RC, Cole T, Maher ER. Meyer E, et al. Among authors: trembath rc. Mol Genet Metab. 2010 Mar;99(3):325-8. doi: 10.1016/j.ymgme.2009.11.004. Epub 2009 Nov 16. Mol Genet Metab. 2010. PMID: 20005757 Free PMC article.

9

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. Forshew T, et al. Among authors: trembath rc. Hum Genet. 2005 Sep;117(5):452-9. doi: 10.1007/s00439-005-1309-9. Epub 2005 Jun 16. Hum Genet. 2005. PMID: 15959809

10

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA. Smith UM, et al. Among authors: trembath rc. Nat Genet. 2006 Feb;38(2):191-6. doi: 10.1038/ng1713. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415887

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