Tee L - Search Results

1

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. Meyer E, et al. Among authors: tee l. Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8. Mol Genet Metab. 2011. PMID: 21959080

2

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: tee lj. Nat Genet. 2006 Feb;38(2):191-6. doi: 10.1038/ng1713. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415887

3

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER. Meyer E, et al. Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206334 Free PMC article.

4

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER. Meyer E, et al. Mol Vis. 2010 Apr 13;16:650-64. Mol Vis. 2010. PMID: 20405026 Free PMC article.

5

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: tee l. Hum Genet. 2005 Sep;117(5):452-9. doi: 10.1007/s00439-005-1309-9. Epub 2005 Jun 16. Hum Genet. 2005. PMID: 15959809

6

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER. Kurian MA, et al. Among authors: tee l. J Clin Invest. 2009 Jun;119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26. J Clin Invest. 2009. PMID: 19478460 Free PMC article.

7

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Morgan NV, Hartley JL, Setchell KD, Simpson MA, Brown R, Tee L, Kirkham S, Pasha S, Trembath RC, Maher ER, Gissen P, Kelly DA. Morgan NV, et al. Among authors: tee l. Orphanet J Rare Dis. 2013 May 16;8:74. doi: 10.1186/1750-1172-8-74. Orphanet J Rare Dis. 2013. PMID: 23679950 Free PMC article.

8

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER. Meyer E, et al. PLoS Genet. 2009 Mar;5(3):e1000423. doi: 10.1371/journal.pgen.1000423. Epub 2009 Mar 20. PLoS Genet. 2009. PMID: 19300480 Free PMC article.

9

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG, Maher ER. Dias RP, et al. Among authors: tee l. J Med Genet. 2013 Sep;50(9):635-9. doi: 10.1136/jmedgenet-2013-101693. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812911

10

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. McKie AB, et al. Among authors: tee l. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. Acta Neuropathol Commun. 2014. PMID: 25476234 Free PMC article.

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