Tan EC - Search Results

1

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: tan ec. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.

2

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

L Ng IS, Chin WH, P Lim EC, Tan EC. L Ng IS, et al. Among authors: tan ec. Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333. Twin Res Hum Genet. 2011. PMID: 21787116 Review.

3

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Lai AH, Brett MS, Chin WH, Lim EC, Ng JS, Tan EC. Lai AH, et al. Among authors: tan ec. Gene. 2012 May 10;499(1):182-5. doi: 10.1016/j.gene.2012.02.043. Epub 2012 Mar 9. Gene. 2012. PMID: 22426292

4

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.

Brett MS, Ng IS, Lim EC, Yong MH, Li Z, Lai A, Tan EC. Brett MS, et al. Among authors: tan ec. Gene. 2013 Mar 15;517(1):82-8. doi: 10.1016/j.gene.2012.12.082. Epub 2013 Jan 11. Gene. 2013. PMID: 23313878

5

De novo trisomy 12p in twin girls with different levels of mosaicism.

Lim EC, Ng IS, Yong MH, Yon HY, Brett MS, Tan EC. Lim EC, et al. Among authors: tan ec. Am J Med Genet A. 2013 Jul;161A(7):1702-5. doi: 10.1002/ajmg.a.35943. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686734

6

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC. Brett M, et al. Among authors: tan p, tan es, tan ec. PLoS One. 2014 Apr 1;9(4):e93409. doi: 10.1371/journal.pone.0093409. eCollection 2014. PLoS One. 2014. PMID: 24690944 Free PMC article.

7

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Chong JH, et al. Among authors: tan es, tan ec, tan wl. Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Eur J Pediatr. 2015. PMID: 25976726 Review.

8

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

Ting TW, Brett MS, Cham BW, Lim JY, Law HY, Tan EC, Lai AH, Jamuar SS. Ting TW, et al. Among authors: tan ec. Clin Dysmorphol. 2016 Jan;25(1):37-40. doi: 10.1097/MCD.0000000000000105. Clin Dysmorphol. 2016. PMID: 26513514 Review. No abstract available.

9

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Lim EC, et al. Among authors: tan es, tan ec. Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x. Hum Genomics. 2015. PMID: 26666243 Free PMC article.

10

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Jamuar SS, et al. Among authors: tan es, tan ec, tan wl. EBioMedicine. 2016 Feb 4;5:211-6. doi: 10.1016/j.ebiom.2016.01.030. eCollection 2016 Mar. EBioMedicine. 2016. PMID: 27077130 Free PMC article.

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