Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 137

1.

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Jang SS, Lim BC, Yoo SK, Shin JY, Kim KJ, Seo JS, Kim JI, Chae JH.

Sci Rep. 2018 Jun 6;8(1):8678. doi: 10.1038/s41598-018-26941-0.

2.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH.

Ann Lab Med. 2018 Sep;38(5):473-480. doi: 10.3343/alm.2018.38.5.473.

3.

Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management.

Kim H, Kim SY, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Dlugos DJ.

Brain Dev. 2018 May 10. pii: S0387-7604(18)30184-0. doi: 10.1016/j.braindev.2018.04.011. [Epub ahead of print]

PMID:
29754875
4.

Two Distinct Secretory Pathways for Differential Kv2.1 Localization in Neurons.

Lim BC, Liu CH.

J Neurosci. 2018 May 2;38(18):4261-4263. doi: 10.1523/JNEUROSCI.0236-18.2018. No abstract available.

PMID:
29720558
5.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH.

Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10.

PMID:
29439846
6.

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC.

Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8.

PMID:
29428275
7.

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH.

Muscle Nerve. 2018 Feb 6. doi: 10.1002/mus.26093. [Epub ahead of print]

PMID:
29406609
8.

Anti-proliferative activity of a purified polysaccharide isolated from the basidiomycete fungus Paxillus involutus.

Barad A, Mackedenski S, Li WM, Li XJ, Lim BCC, Rashid F, Tackaberry LE, Massicotte HB, Egger KN, Reimer K, Cheung PCK, Lee CH.

Carbohydr Polym. 2018 Feb 1;181:923-930. doi: 10.1016/j.carbpol.2017.11.058. Epub 2017 Nov 16.

PMID:
29254055
9.

Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia.

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ.

Epilepsy Res. 2018 Jan;139:54-59. doi: 10.1016/j.eplepsyres.2017.11.012. Epub 2017 Nov 27.

PMID:
29197666
10.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M.

Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.

PMID:
28856709
11.

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC.

Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516.

12.

Factors Associated with Favorable Outcome of Topiramate Migraine Prophylaxis in Pediatric Patients.

Yoo IH, Kim W, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ.

J Clin Neurol. 2017 Jul;13(3):281-286. doi: 10.3988/jcn.2017.13.3.281.

13.

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Lee JS, Seo J, Cho A, Lim BC, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH.

Brain Dev. 2017 Oct;39(9):799-803. doi: 10.1016/j.braindev.2017.04.020. Epub 2017 Jun 28.

PMID:
28668235
14.

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Lee YJ, Yum MS, Kim MJ, Shim WH, Yoon HM, Yoo IH, Lee J, Lim BC, Kim KJ, Ko TS.

Neuroimage Clin. 2017 Jun 6;15:594-600. doi: 10.1016/j.nicl.2017.06.002. eCollection 2017.

15.

Mandarin parents' evaluation of developmental status in the detection of delays.

Toh TH, Lim BC, Bujang MAB, Haniff J, Wong SC, Abdullah MR.

Pediatr Int. 2017 Aug;59(8):861-868. doi: 10.1111/ped.13325. Epub 2017 Jul 14.

PMID:
28510345
16.

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC.

Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. Review.

PMID:
28043061
17.

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH.

Eur J Paediatr Neurol. 2017 Mar;21(2):404-409. doi: 10.1016/j.ejpn.2016.07.010. Epub 2016 Jul 18.

PMID:
28041799
18.

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.

Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M, Kwon SH, Park JD, Lim BC, Lee DH, Kang SJ, Choi M, Park SG, Chae JH.

J Allergy Clin Immunol. 2017 Apr;139(4):1396-1399.e12. doi: 10.1016/j.jaci.2016.10.030. Epub 2016 Dec 29. No abstract available.

19.

Multiple Intracranial High Density Foci after Brain Parenchymal Catheterization.

Choi TM, Cho KY, Lim BC, Lim JS, Lee RS.

Korean J Neurotrauma. 2016 Oct;12(2):118-122. Epub 2016 Oct 31.

20.
21.

Psychometric Properties of the Heart Disease Knowledge Scale: Evidence from Item and Confirmatory Factor Analyses.

Lim BC, Kueh YC, Arifin WN, Ng KH.

Malays J Med Sci. 2016 Jul;23(4):33-45. doi: 10.21315/mjms2016.23.4.5. Epub 2016 Jun 30.

22.

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Yoo H, Ko JM, Lim BC, Cheong HI.

Ann Clin Lab Sci. 2016 Sep;46(5):544-8.

PMID:
27650623
23.

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH.

Muscle Nerve. 2017 May;55(5):727-734. doi: 10.1002/mus.25396. Epub 2017 Jan 20.

PMID:
27593222
24.

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH.

Am J Med Genet A. 2016 Nov;170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13.

PMID:
27411168
25.

Prickle1 promotes focal adhesion disassembly in cooperation with the CLASP-LL5β complex in migrating cells.

Lim BC, Matsumoto S, Yamamoto H, Mizuno H, Kikuta J, Ishii M, Kikuchi A.

J Cell Sci. 2016 Aug 15;129(16):3115-29. doi: 10.1242/jcs.185439. Epub 2016 Jul 4.

26.

Averaged EEG spike dipole analysis may predict atypical outcome in Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS).

Kim H, Yoo IH, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ.

Brain Dev. 2016 Nov;38(10):903-908. doi: 10.1016/j.braindev.2016.06.001. Epub 2016 Jun 18.

PMID:
27329010
27.

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH.

Am J Med Genet A. 2016 Aug;170(8):2200-5. doi: 10.1002/ajmg.a.37773. Epub 2016 May 27.

PMID:
27232954
28.

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome.

Lee JS, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Hwang YS, Chae JH.

J Clin Neurol. 2016 Apr;12(2):181-7. doi: 10.3988/jcn.2016.12.2.181.

29.

Prevalence of antineuronal antibodies in patients with encephalopathy of unknown etiology: Data from a nationwide registry in Korea.

Byun JI, Lee ST, Jung KH, Sunwoo JS, Moon J, Kim TJ, Lim JA, Kim S, Kim DY, Han SH, Jang H, Suh HI, Cho AH, Kim DW, Shin JW, Koo YS, Choi WC, Lee WW, Choi N, Kim S, Nam H, Koo DL, Kim M, Lim BC, Chae JH, Kim KJ, Jeon D, Park KI, Jung KY, Kim M, Chu K, Lee SK.

J Neuroimmunol. 2016 Apr 15;293:34-8. doi: 10.1016/j.jneuroim.2016.02.002. Epub 2016 Feb 21.

PMID:
27049559
30.

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.

Kim MJ, Cho SI, Chae JH, Lim BC, Lee JS, Lee SJ, Seo SH, Park H, Cho A, Kim SY, Kim JY, Park SS, Seong MW.

J Mol Diagn. 2016 Mar;18(2):253-9. doi: 10.1016/j.jmoldx.2015.11.002. Epub 2015 Dec 29.

PMID:
26743743
31.

SATB2-associated syndrome presenting with Rett-like phenotypes.

Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH.

Clin Genet. 2016 Jun;89(6):728-32. doi: 10.1111/cge.12698. Epub 2016 Jan 19.

PMID:
26596517
32.

Pediatric Stroke.

Jeong G, Lim BC, Chae JH.

J Korean Neurosurg Soc. 2015 Jun;57(6):396-400. doi: 10.3340/jkns.2015.57.6.396. Epub 2015 Jun 30. Review.

33.

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

Seong MW, Cho A, Park HW, Seo SH, Lim BC, Seol D, Cho SI, Park SS, Chae JH.

Clin Genet. 2015 Jun 8. doi: 10.1111/cge.12621. [Epub ahead of print]

PMID:
26060040
34.

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH.

Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30.

PMID:
25936994
35.

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Yoo SK, Lim BC, Byeun J, Hwang H, Kim KJ, Hwang YS, Lee J, Park JS, Lee YS, Namkung J, Park J, Lee S, Shin JY, Seo JS, Kim JI, Chae JH.

Clin Chem. 2015 Jun;61(6):829-37. doi: 10.1373/clinchem.2014.236380. Epub 2015 Apr 6.

36.

Home mechanical ventilation in childhood-onset hereditary neuromuscular diseases: 13 years' experience at a single center in Korea.

Han YJ, Park JD, Lee B, Choi YH, Suh DI, Lim BC, Chae JH.

PLoS One. 2015 Mar 30;10(3):e0122346. doi: 10.1371/journal.pone.0122346. eCollection 2015.

37.

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Byun CK, Lee JS, Lim BC, Kim KJ, Hwang YS, Chae JH.

Child Neurol Open. 2015 Feb 10;2(1):2329048X14568151. doi: 10.1177/2329048X14568151. eCollection 2015 Jan-Mar.

38.

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH.

J Med Genet. 2015 Mar;52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. Epub 2015 Jan 29.

PMID:
25635128
39.

Screening Autoimmune Anti-neuronal Antibodies in Pediatric Patients with Suspected Autoimmune Encephalitis.

Kim SY, Choi SA, Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Hwang YS, Lee ST, Chu K, Lee SK.

J Epilepsy Res. 2014 Dec 31;4(2):55-61. eCollection 2014 Dec.

40.

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.

Epilepsy Res. 2015 Jan;109:34-9. doi: 10.1016/j.eplepsyres.2014.10.008. Epub 2014 Oct 28.

PMID:
25524840
41.

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

Lee JS, Lim BC, Kim KJ, Hwang YS, Seong MW, Park SS, Park SH, Chae JH.

Pediatr Int. 2014 Dec;56(6):e88-e91. doi: 10.1111/ped.12442.

PMID:
25521991
42.

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Lee JS, Lim BC, Chae JH, Hwang YS, Seong MW, Park SS, Kim KJ.

Epileptic Disord. 2014 Dec;16(4):449-55. doi: 10.1684/epd.2014.0712.

43.

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Lee JS, Byun CK, Kim H, Lim BC, Hwang H, Choi JE, Hwang YS, Seong MW, Park SS, Kim KJ, Chae JH.

Brain Dev. 2015 Apr;37(4):402-8. doi: 10.1016/j.braindev.2014.07.007. Epub 2014 Aug 6.

PMID:
25108505
44.

Effectiveness of intravenous levetiracetam as an adjunctive treatment in pediatric refractory status epilepticus.

Kim JS, Lee JH, Ryu HW, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Hwang YS, Kim H.

Pediatr Emerg Care. 2014 Aug;30(8):525-8. doi: 10.1097/PEC.0000000000000183.

PMID:
25062293
45.

Aquaporin-4 autoimmunity masquerading as a brainstem tumor.

Lim BC, Chae JH, Kim SK, Park SH, Wang KC, Lee JY, Phi JH.

J Neurosurg Pediatr. 2014 Sep;14(3):301-5. doi: 10.3171/2014.6.PEDS13674. Epub 2014 Jul 11.

PMID:
25014325
46.

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.

Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.

PMID:
24914498
47.

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.

Lee JS, Lim BC, Kim KJ, Hwang YS, Cheon JE, Kim IO, Seong MW, Park SS, Chae JH.

Brain Dev. 2015 Feb;37(2):223-9. doi: 10.1016/j.braindev.2014.04.012. Epub 2014 May 29.

PMID:
24882692
48.

Clipping of incidental aneurysm of middle cerebral artery through small temporal craniotomy and linear skin incision.

Mun JH, Cho KY, Lee RS, Lim BC, Choi TM, Lim JS.

J Cerebrovasc Endovasc Neurosurg. 2014 Mar;16(1):32-8. doi: 10.7461/jcen.2014.16.1.32. Epub 2014 Mar 31.

49.

Asymptomatic cervical isthmic spondylolisthesis and associated occult spinal bifida: a case report.

Lim JW, Kang SK, Jeon SG, Lim BC.

Korean J Spine. 2013 Mar;10(1):35-7. doi: 10.14245/kjs.2013.10.1.35. Epub 2013 Mar 31.

50.

Factors related to catheter-induced hemorrhage after brain parenchymal catheterization.

Mun JH, Cho KY, Lim BC, Lim JS, Lee RS.

Chonnam Med J. 2013 Dec;49(3):113-7. doi: 10.4068/cmj.2013.49.3.113. Epub 2013 Dec 23.

Supplemental Content

Support Center