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Items: 18

1.

IPEX Syndrome.

Tan QKG, Louie RJ, Sleasman JW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Oct 19 [updated 2018 Jul 19].

2.

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network, Shashi V, Pena LDM.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.

3.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network.

Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.

4.

NOTCH3 regulates stem-to-mural cell differentiation in infantile hemangioma.

Edwards AK, Glithero K, Grzesik P, Kitajewski AA, Munabi NC, Hardy K, Tan QK, Schonning M, Kangsamaksin T, Kitajewski JK, Shawber CJ, Wu JK.

JCI Insight. 2017 Nov 2;2(21). pii: 93764. doi: 10.1172/jci.insight.93764.

5.

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

Tan QK, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002063. doi: 10.1101/mcs.a002063. Print 2017 Nov.

6.

Identification of EPCAM mutation: clinical use of microarray.

Tan QK, Cardona DM, Rehder CW, McDonald MT.

Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. eCollection 2017 Jun.

7.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ.

Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20.

8.

Propranolol Targets Hemangioma Stem Cells via cAMP and Mitogen-Activated Protein Kinase Regulation.

Munabi NC, England RW, Edwards AK, Kitajewski AA, Tan QK, Weinstein A, Kung JE, Wilcox M, Kitajewski JK, Shawber CJ, Wu JK.

Stem Cells Transl Med. 2016 Jan;5(1):45-55. doi: 10.5966/sctm.2015-0076. Epub 2015 Nov 16.

9.

Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

Munabi NC, Tan QK, Garzon MC, Behr GG, Shawber CJ, Wu JK.

Pediatr Dermatol. 2015 Jul-Aug;32(4):539-43. doi: 10.1111/pde.12530. Epub 2015 Feb 18.

10.

Premature pubarche in children with Pompe disease.

Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS.

J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.

PMID:
25687635
11.

VEGFR-1 blockade disrupts peri-implantation decidual angiogenesis and macrophage recruitment.

Douglas NC, Zimmermann RC, Tan QK, Sullivan-Pyke CS, Sauer MV, Kitajewski JK, Shawber CJ.

Vasc Cell. 2014 Aug 1;6:16. doi: 10.1186/2045-824X-6-16. eCollection 2014.

12.

Genome Sequence of Fusobacterium nucleatum Strain W1481, a Possible New Subspecies Isolated from a Periodontal Pocket.

Ang MY, Dymock D, Tan JL, Thong MH, Tan QK, Wong GJ, Paterson IC, Choo SW.

Genome Announc. 2014 Feb 13;2(1). pii: e00009-14. doi: 10.1128/genomeA.00009-14.

13.

Genome Sequence of Parvimonas micra Strain A293, Isolated from an Abdominal Abscess from a Patient in the United Kingdom.

Ang MY, Dymock D, Tan JL, Thong MH, Tan QK, Wong GJ, Paterson IC, Choo SW.

Genome Announc. 2013 Dec 5;1(6). pii: e01025-13. doi: 10.1128/genomeA.01025-13.

14.

Heparin-binding motifs and biofilm formation by Candida albicans.

Green JV, Orsborn KI, Zhang M, Tan QK, Greis KD, Porollo A, Andes DR, Long Lu J, Hostetter MK.

J Infect Dis. 2013 Nov 15;208(10):1695-704. doi: 10.1093/infdis/jit391. Epub 2013 Jul 31.

15.

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Tan QK, Cheah SM, Dearmey SM, Kishnani PS.

Mol Genet Metab. 2013 Feb;108(2):142-4. doi: 10.1016/j.ymgme.2012.11.013. Epub 2012 Nov 29.

PMID:
23266370
16.

An Arabidopsis F-box protein acts as a transcriptional co-factor to regulate floral development.

Chae E, Tan QK, Hill TA, Irish VF.

Development. 2008 Apr;135(7):1235-45. doi: 10.1242/dev.015842. Epub 2008 Feb 20.

18.

Regulation of APETALA3 floral homeotic gene expression by meristem identity genes.

Lamb RS, Hill TA, Tan QK, Irish VF.

Development. 2002 May;129(9):2079-86.

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