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Items: 47

1.

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK.

Ann Hum Genet. 2019 Feb 7. doi: 10.1111/ahg.12298. [Epub ahead of print]

PMID:
30730578
2.

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY, Jang JH, Park J, Lee IG.

Front Pediatr. 2018 Dec 17;6:391. doi: 10.3389/fped.2018.00391. eCollection 2018.

3.

Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.

Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK.

Ann Clin Lab Sci. 2018 Nov;48(6):776-781.

PMID:
30610049
4.

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.

Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH.

Korean J Pediatr. 2018 Dec;61(12):403-406. doi: 10.3345/kjp.2018.06289. Epub 2018 Sep 16.

5.

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases.

Lee MH, Kim ES, Choi MC, Heo JH, Jang JH, Jung SG, Park H, Joo WD, Lee C, Lee JH.

Obstet Gynecol Sci. 2018 Sep;61(5):590-597. doi: 10.5468/ogs.2018.61.5.590. Epub 2018 Aug 28.

6.

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.

Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH.

Exp Clin Endocrinol Diabetes. 2018 Sep 14. doi: 10.1055/a-0681-6608. [Epub ahead of print]

PMID:
30216942
7.

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.

Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK.

Ann Clin Lab Sci. 2018 Jul;48(4):522-527. Review.

PMID:
30143497
8.

Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.

Kim EJ, Kim YE, Jang JH, Cho EH, Na DL, Seo SW, Jung NY, Jeong JH, Kwon JC, Park KH, Park KW, Lee JH, Roh JH, Kim HJ, Yoon SJ, Choi SH, Jang JW, Ki CS, Kim SH.

Neurobiol Aging. 2018 Dec;72:186.e1-186.e7. doi: 10.1016/j.neurobiolaging.2018.06.031. Epub 2018 Jun 30.

PMID:
30054184
9.

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.

Shim YJ, Park SY, Jung N, Kim HS, Ha JS, Jang JH.

Pediatr Blood Cancer. 2018 Oct;65(10):e27279. doi: 10.1002/pbc.27279. Epub 2018 Jun 12.

PMID:
29893454
10.

Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.

Lee HJ, Choi MC, Jang JH, Jung SG, Park H, Joo WD, Kim TH, Lee C, Lee JH.

J Obstet Gynaecol Res. 2018 May;44(5):944-950. doi: 10.1111/jog.13603. Epub 2018 Feb 14.

PMID:
29442399
11.

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Han JY, Jang JH, Lee IG, Shin S, Park J.

Ann Clin Lab Sci. 2017 Nov;47(6):747-753.

PMID:
29263050
12.

Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.

Choi MC, Jang JH, Jung SG, Park H, Joo WD, Song SH, Lee C, Lee JH.

Int J Gynecol Cancer. 2018 Feb;28(2):308-315. doi: 10.1097/IGC.0000000000001161.

PMID:
29240602
13.

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH.

J Hum Genet. 2018 Mar;63(3):383-386. doi: 10.1038/s10038-017-0386-7. Epub 2017 Dec 13. Review.

PMID:
29235540
14.

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.

Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK.

Ann Pediatr Endocrinol Metab. 2017 Sep;22(3):203-207. doi: 10.6065/apem.2017.22.3.203. Epub 2017 Sep 28.

15.

Kallmann syndrome with a Tyr113His PROKR2 mutation.

Ha JH, Lee S, Kim Y, Moon JI, Seo J, Jang JH, Cho EH, Kim JM, Rhee BD, Ko KS, Yoo SJ, Won JC.

Medicine (Baltimore). 2017 Sep;96(35):e7974. doi: 10.1097/MD.0000000000007974.

16.

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J.

Eur J Med Genet. 2017 Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12.

PMID:
28807762
17.

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

Han JY, Lee IG, Shin S, Kim M, Jang JH, Park J.

Eur J Med Genet. 2017 Oct;60(10):499-503. doi: 10.1016/j.ejmg.2017.07.002. Epub 2017 Jul 4.

PMID:
28687527
18.

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK.

Clin Chim Acta. 2017 Aug;471:191-195. doi: 10.1016/j.cca.2017.06.010. Epub 2017 Jun 13.

PMID:
28619360
19.

Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.

Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH.

J Menopausal Med. 2017 Apr;23(1):69-73. doi: 10.6118/jmm.2017.23.1.69. Epub 2017 Apr 28.

20.

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH, Lee T, Bang S, Kim YE, Cho EH.

J Hum Genet. 2017 Sep;62(9):815-818. doi: 10.1038/jhg.2017.49. Epub 2017 May 18.

PMID:
28515472
21.

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, Cho EH, Choi YC, Lee JH.

Ann Lab Med. 2017 Jul;37(4):359-361. doi: 10.3343/alm.2017.37.4.359. No abstract available.

22.

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES.

JAAD Case Rep. 2017 Apr 14;3(3):172-174. doi: 10.1016/j.jdcr.2017.01.023. eCollection 2017 May. No abstract available.

23.

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW.

Clin Genet. 2017 Dec;92(6):594-605. doi: 10.1111/cge.13038. Epub 2017 Aug 30.

PMID:
28425089
24.

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.

Song HK, Sohn YB, Choi YJ, Chung YS, Jang JH.

Medicine (Baltimore). 2017 Mar;96(12):e6367. doi: 10.1097/MD.0000000000006367.

25.

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH.

Mol Cell Endocrinol. 2017 Mar 15;444:19-25. doi: 10.1016/j.mce.2017.01.037. Epub 2017 Jan 24.

PMID:
28130116
26.

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.

Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH.

Ann Rehabil Med. 2016 Dec;40(6):1129-1134. doi: 10.5535/arm.2016.40.6.1129. Epub 2016 Dec 30.

27.

Prognostic Implications of Monosomies in Patients With Multiple Myeloma.

Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY.

Clin Lymphoma Myeloma Leuk. 2017 Mar;17(3):159-164.e2. doi: 10.1016/j.clml.2016.12.001. Epub 2016 Dec 26.

PMID:
28089441
28.

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis.

Kim YE, Oh KW, Noh MY, Nahm M, Park J, Lim SM, Jang JH, Cho EH, Ki CS, Lee S, Kim SH.

Neurobiol Aging. 2017 Feb;50:170.e1-170.e6. doi: 10.1016/j.neurobiolaging.2016.11.003. Epub 2016 Nov 19.

PMID:
27939697
29.

Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.

Kim NR, Jang JH, Jeon GW, Cho EH, Sin JB.

Ann Clin Lab Sci. 2016 Winter;46(1):110-3.

PMID:
26927354
30.

Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication.

Kim MJ, Ahn S, Jeong SH, Jang JH, Han JH, Choi JR, Cho SR.

Ann Lab Med. 2016 May;36(3):263-5. doi: 10.3343/alm.2016.36.3.263. No abstract available.

31.

Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations.

Choi MC, Heo JH, Jang JH, Jung SG, Park H, Joo WD, Lee C, Lee JH, Lee JM, Hwang YY, Kim SJ.

Int J Gynecol Cancer. 2015 Oct;25(8):1386-91. doi: 10.1097/IGC.0000000000000529.

PMID:
26402875
32.

A simple PCR-based fluorometric system for detection of mutant fusion DNAs using a quencher-free fluorescent DNA probe and graphene oxide.

Roh K, Kim DM, Lee EH, Kim H, Park HS, Jang JH, Hwang SH, Kim DE.

Chem Commun (Camb). 2015 Apr 25;51(32):6960-3. doi: 10.1039/c5cc00263j. Epub 2015 Mar 23.

PMID:
25797656
33.

TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.

Kim HG, Jang JH, Koh EH.

Mol Cytogenet. 2014 Dec 23;7(1):103. doi: 10.1186/s13039-014-0103-6. eCollection 2014.

34.

Hereditary gene mutations in Korean patients with isolated erythrocytosis.

Jang JH, Seo JY, Jang J, Jung CW, Lee KO, Kim SH, Kim HJ.

Ann Hematol. 2014 Jun;93(6):931-5. doi: 10.1007/s00277-014-2006-3. Epub 2014 Jan 31.

PMID:
24482100
35.

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.

Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH.

Neurobiol Aging. 2013 Apr;34(4):1311.e7-9. doi: 10.1016/j.neurobiolaging.2012.09.004. Epub 2012 Oct 22.

PMID:
23088937
36.

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.

Cho SY, Ki CS, Jang JH, Sohn YB, Park SW, Kim SH, Kim SJ, Jin DK.

Am J Med Genet A. 2012 Jun;158A(6):1462-6. doi: 10.1002/ajmg.a.35357. Epub 2012 May 11.

PMID:
22581654
37.

Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area.

Lee ST, Kim SW, Ki CS, Jang JH, Shin JH, Oh YL, Kim JW, Chung JH.

J Clin Endocrinol Metab. 2012 Jul;97(7):2299-306. doi: 10.1210/jc.2011-3135. Epub 2012 Apr 12.

PMID:
22500044
38.

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.

Jang MJ, Park HJ, Chong SY, Huh JY, Kim IH, Jang JH, Kim HJ, Oh D.

Yonsei Med J. 2012 May;53(3):662-6. doi: 10.3349/ymj.2012.53.3.662.

39.

Identification of clinical mold isolates by sequence analysis of the internal transcribed spacer region, ribosomal large-subunit D1/D2, and β-tubulin.

Jang JH, Lee JH, Ki CS, Lee NY.

Ann Lab Med. 2012 Mar;32(2):126-32. doi: 10.3343/alm.2012.32.2.126. Epub 2012 Feb 23.

40.

Respiratory viral infections during the first 28 days after transplantation in pediatric hematopoietic stem cell transplant recipients.

Lee JH, Jang JH, Lee SH, Kim YJ, Yoo KH, Sung KW, Lee NY, Ki CS, Koo HH.

Clin Transplant. 2012 Sep-Oct;26(5):736-40. doi: 10.1111/j.1399-0012.2012.01607.x. Epub 2012 Mar 4.

PMID:
22385011
41.

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

Jang JH, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH.

J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5. Erratum in: J Hum Genet. 2012 Mar;57(3):222.

PMID:
22217648
42.

Streptococcus suis meningitis with bilateral sensorineural hearing loss.

Huh HJ, Park KJ, Jang JH, Lee M, Lee JH, Ahn YH, Kang CI, Ki CS, Lee NY.

Korean J Lab Med. 2011 Jul;31(3):205-11. doi: 10.3343/kjlm.2011.31.3.205. Epub 2011 Jun 28.

43.

Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.

Jang JH, Jin DK, Kim JH, Tan HK, Kim JW, Lee SY, Ki CS, Park HD.

Ann Clin Lab Sci. 2011 Fall;41(1):44-7.

PMID:
21325254
44.

Blood chimerism in a dizygotic dichorionic pregnancy.

Jang JH, Jung H, Kim JH, Park WS, Kim SH.

Korean J Lab Med. 2010 Oct;30(5):521-4. doi: 10.3343/kjlm.2010.30.5.521.

45.

JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.

Kim HJ, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH.

Korean J Lab Med. 2010 Oct;30(5):474-6. doi: 10.3343/kjlm.2010.30.5.474. Erratum in: Korean J Lab Med. 2010 Dec;30(6):734.

46.

Establishment of reference intervals for von Willebrand factor antigen and eight coagulation factors in a Korean population following the Clinical and Laboratory Standards Institute guidelines.

Jang JH, Seo JY, Bang SH, Park IA, Kim HJ, Kim SH.

Blood Coagul Fibrinolysis. 2010 Apr;21(3):251-5. doi: 10.1097/MBC.0b013e3283367931.

PMID:
20160641
47.

Acute myeloid leukemia with del(X)(p21) and cryptic RUNX1/RUNX1T1 from ins(8;21)(q22;q22q22) revealed by atypical FISH signals.

Jang JH, Yoo EH, Kim HJ, Kim DH, Jung CW, Kim SH.

Ann Clin Lab Sci. 2010 Winter;40(1):80-4.

PMID:
20124335

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