Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 30

1.

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

Yap CS, Shekhar Jamuar S, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC.

Gene. 2020 Jan 11:144360. doi: 10.1016/j.gene.2020.144360. [Epub ahead of print]

PMID:
31935506
2.

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Cabet S, Putoux A, Buenerd A, Gueneau L, Reymond A, Thia EWH, Lai AHM, Schindewolf EM, Sanlaville D, Lesca G, Guibaud L.

Prenat Diagn. 2019 Nov 17. doi: 10.1002/pd.5589. [Epub ahead of print] No abstract available.

PMID:
31736083
3.

Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.

Chew YR, Lim JY, Teoh OH, Chen CK, Foo R, Lai AH, Jamuar SS.

Clin Dysmorphol. 2019 Jul;28(3):167-169. doi: 10.1097/MCD.0000000000000264. No abstract available.

PMID:
30921097
4.

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Koh AL, Tan ES, Brett MS, Lai AHM, Jamuar SS, Ng I, Tan EC.

Mol Genet Genomic Med. 2019 Apr;7(4):e00581. doi: 10.1002/mgg3.581. Epub 2019 Feb 19.

5.

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

Bhatia NS, Lim JY, Brett MS, Tan EC, Law HY, Thomas B, Choo J, Lai AHM, Jamuar SS.

Clin Dysmorphol. 2019 Jan;28(1):53-56. doi: 10.1097/MCD.0000000000000245. Review. No abstract available.

PMID:
30507726
6.

Vouchers for primary healthcare services in an ageing world? The perspectives of elderly voucher recipients in Hong Kong.

Lai AH, Kuang Z, Yam CH, Ayub S, Yeoh EK.

Health Soc Care Community. 2018 May;26(3):374-382. doi: 10.1111/hsc.12523. Epub 2017 Dec 11.

PMID:
29230894
7.

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.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. Review.

8.

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.

Brett M, Korovesis G, Lai AHM, Lim ECP, Tan EC.

J Hum Genet. 2017 Jul;62(7):711-715. doi: 10.1038/jhg.2017.32. Epub 2017 Mar 23.

PMID:
28331219
9.

Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.

Brett M, Lai AH, Ting TW, Tan AM, Foo R, Jamuar S, Tan EC.

Am J Med Genet A. 2017 Feb;173(2):550-552. doi: 10.1002/ajmg.a.38026. Epub 2016 Oct 19. No abstract available.

PMID:
27759915
10.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: 87623. doi: 10.1172/jci.insight.87623.

11.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.

Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.

12.

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.

Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x.

13.

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.

Clin Dysmorphol. 2016 Jan;25(1):37-40. doi: 10.1097/MCD.0000000000000105. Review. No abstract available.

PMID:
26513514
14.

Left Ventricular Non-compaction: Is It Genetic?

Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH.

Pediatr Cardiol. 2015 Dec;36(8):1565-72. doi: 10.1007/s00246-015-1222-5. Epub 2015 Jun 25. Review.

PMID:
26108892
15.

Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis.

Lim CC, Lai AH, Choo JC.

Clin Kidney J. 2014 Aug;7(4):411-2. doi: 10.1093/ckj/sfu066. Epub 2014 Jun 23. No abstract available.

16.

Haemoglobin E-beta Thalassaemia in Singapore.

Tan ES, Koh C, Law HY, Tan GP, Lai AH, Ng IS.

Ann Acad Med Singapore. 2014 Jun;43(6):331-3. No abstract available.

17.

Integration of EEG lead placement templates into traditional technologist-based staffing models reduces costs in continuous video-EEG monitoring service.

Kolls BJ, Lai AH, Srinivas AA, Reid RR.

J Clin Neurophysiol. 2014 Jun;31(3):187-93. doi: 10.1097/WNP.0000000000000053.

PMID:
24887599
18.

End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation.

Lim CC, Tan H, Thangaraju S, Lai AH, Foo MW.

Int Urol Nephrol. 2014 Sep;46(9):1869-70. doi: 10.1007/s11255-014-0735-9. Epub 2014 May 16. No abstract available.

PMID:
24832776
19.

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Ting TW, Lai AH, Choo JT, Tan TH.

Eur J Pediatr. 2014 Mar;173(3):387-91. doi: 10.1007/s00431-013-2187-0. Epub 2013 Oct 22.

PMID:
24146167
20.

Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia.

Jamuar SS, Lai AH.

Ther Adv Hematol. 2012 Oct;3(5):299-307. doi: 10.1177/2040620712450252.

21.

Sleeping posture and intraocular pressure.

Wong MH, Lai AH, Singh M, Chew PT.

Singapore Med J. 2013 Mar;54(3):146-8.

22.

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.

Gene. 2012 May 10;499(1):182-5. doi: 10.1016/j.gene.2012.02.043. Epub 2012 Mar 9.

PMID:
22426292
23.

Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.

Jamuar SS, Lai AH, Tan AM, Chan MY, Tan ES, Ng IS.

J Paediatr Child Health. 2011 Nov;47(11):812-7. doi: 10.1111/j.1440-1754.2011.02031.x. Epub 2011 Sep 9.

PMID:
21902752
24.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA.

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8. doi: 10.1073/pnas.1009199108. Epub 2010 Dec 20.

25.

Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy.

Choo JT, Tan TH, Lai AH, Wong KY.

Singapore Med J. 2009 Oct;50(10):e353-7.

26.

In vitro self-assembly of tailorable nanotubes from a simple protein building block.

Ballister ER, Lai AH, Zuckermann RN, Cheng Y, Mougous JD.

Proc Natl Acad Sci U S A. 2008 Mar 11;105(10):3733-8. doi: 10.1073/pnas.0712247105. Epub 2008 Feb 29.

27.

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.

Lai AH, Tan YM, Law HY, Yeow VK.

Clin Dysmorphol. 2008 Jan;17(1):73-4. No abstract available.

PMID:
18049087
28.

Assessing the diagnostic test accuracy of natriuretic peptides and ECG in the diagnosis of left ventricular systolic dysfunction: a systematic review and meta-analysis.

Davenport C, Cheng EY, Kwok YT, Lai AH, Wakabayashi T, Hyde C, Connock M.

Br J Gen Pract. 2006 Jan;56(522):48-56. Review.

29.

SMN1 deletions among singaporean patients with spinal muscular atrophy.

Lai AH, Tan ES, Law HY, Yoon CS, Ng IS.

Ann Acad Med Singapore. 2005 Jan;34(1):73-7.

30.

Intussusception: a three-year review.

Lai AH, Phua KB, Teo EL, Jacobsen AS.

Ann Acad Med Singapore. 2002 Jan;31(1):81-5.

PMID:
11885503

Supplemental Content

Support Center