- Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives
-
Lee KY, Lee BD, Park JM, Lee YM, Moon E, Jeong HJ, Kim SY, Suh H, Chung YI, Kim SC
- KMID: 2451940
- Psychiatry Investig.
- 2019 Jun;16(6):450-458.
- doi: 10.30773/pi.2019.04.12
OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring... -
- CITED
-
- Close
- SHARE
-
- Close
- Family tree database of the National Health Information Database in Korea
-
Kim YY, Hong HY, Cho KD, Park JH
- KMID: 2469442
- Epidemiol Health.
- 2019;41:e2019040.
- doi: 10.4178/epih.e2019040
We constructed the family tree database (DB) by using a new family code system that can logically express interpersonal family relationships and by comparing and complementing health insurance eligibility data... -
- CITED
-
- Close
- SHARE
-
- Close
- Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study
-
Rekha S, Ramalingam R, Parani M
- KMID: 2428990
- J Audiol Otol.
- 2018 Oct;22(4):223-228.
- doi: 10.7874/jao.2018.00122
BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the... -
- CITED
-
- Close
- SHARE
-
- Close
- The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer
-
Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R
- KMID: 2421374
- J Breast Cancer.
- 2018 Sep;21(3):330-333.
- doi: 10.4048/jbc.2018.21.e33
In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her... -
- CITED
-
- Close
- SHARE
-
- Close
- Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China
-
Feng SY, Feng SM, Li LY, Zou ZY
- KMID: 2407961
- J Clin Neurol.
- 2018 Apr;14(2):261-263.
- doi: 10.3988/jcn.2018.14.2.261
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
-
Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX
- KMID: 2419100
- Yonsei Med J.
- 2017 Jul;58(4):888-890.
- doi: 10.3349/ymj.2017.58.4.888
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism... -
- CITED
-
- Close
- SHARE
-
- Close
- Persistent α-Fetoprotein Elevation in Healthy Adults and Mutational Analysis of α-Fetoprotein Promoter, Enhancer, and Silencer Regions
-
Jeon Y, Choi YS, Jang ES, Kim JW, Jeong SH
- KMID: 2412165
- Gut Liver.
- 2017 Jan;11(1):136-141.
- doi: 10.5009/gnl16069
BACKGROUND/AIMS: α-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels ( -
- CITED
-
- Close
- SHARE
-
- Close
- First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant
-
Cho YY, Song JS, Park HD, Kim YN, Kim HI, Kim TH, Chung JH, Ki CS, Kim SW
- KMID: 2373616
- Ann Lab Med.
- 2017 Jan;37(1):63-65.
- doi: 10.3343/alm.2017.37.1.63
Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of the ABO*cis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea
-
Yoon J, Youk HJ, Chang JH, Jang MA, Choi JH, Nam MH, Choi JS, Lim CS
- KMID: 2373606
- Ann Lab Med.
- 2016 Nov;36(6):620-622.
- doi: 10.3343/alm.2016.36.6.620
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
-
Lee J, Rhee M, Min TK, Bang HI, Jang MA, Kang ES, Kim HJ, Yang HJ, Pyun BY
- KMID: 2362254
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S49-S52.
- doi: 10.3345/kjp.2016.59.11.S49
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of... -
- CITED
-
- Close
- SHARE
-
- Close
- Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family
-
Chung SW, Kang EH, Lee YJ, Ha YJ, Song YW
- KMID: 2374179
- Yonsei Med J.
- 2016 Sep;57(5):1290-1293.
- doi: 10.3349/ymj.2016.57.5.1290
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile... -
- CITED
-
- Close
- SHARE
-
- Close
- Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma
-
Kwon EB, Jeong HR, Shim YS, Lee HS, Hwang JS
- KMID: 2373713
- J Korean Med Sci.
- 2016 Jun;31(6):1003-1006.
- doi: 10.3346/jkms.2016.31.6.1003
Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively... -
- CITED
-
- Close
- SHARE
-
- Close
- A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome
-
Kim Y, Kang SS, Park WY, Jin K, Kim DK, Han S
- KMID: 2328426
- Electrolyte Blood Press.
- 2016 Jun;14(1):16-19.
- doi: 10.5049/EBP.2016.14.1.16
A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior.... -
- CITED
-
- Close
- SHARE
-
- Close
- PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data
-
Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Keramatipour M
- KMID: 2311829
- Kidney Res Clin Pract.
- 2016 Jun;35(2):96-101.
- doi: 10.1016/j.krcp.2016.02.003
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis
-
Lee S, Park SY, Kwon HJ, Lee CH, Kim OH, Rhee Y
- KMID: 2373671
- J Korean Med Sci.
- 2016 May;31(5):735-742.
- doi: 10.3346/jkms.2016.31.5.735
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously... -
- CITED
-
- Close
- SHARE
-
- Close
- The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene
-
Park KJ, Park JH, Park JH, Cho EB, Kim BJ, Kim JW
- KMID: 2373537
- Ann Lab Med.
- 2016 May;36(3):259-262.
- doi: 10.3343/alm.2016.36.3.259
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported.... -
- CITED
-
- Close
- SHARE
-
- Close
- A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis
-
Sultanova , Kim SK, Lee JW, Jang PS, Chung NG, Cho B, Park J, Kim Y, Kim M
- KMID: 2373518
- Ann Lab Med.
- 2016 Mar;36(2):170-173.
- doi: 10.3343/alm.2016.36.2.170
We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous... -
- CITED
-
- Close
- SHARE
-
- Close
- Heritability Estimated Using 50K SNPs Indicates Missing Heritability Problem in Holstein Breeding
-
Shin D, Park KD, Ka S, Kim H, Cho KH
- KMID: 2166530
- Genomics Inform.
- 2015 Dec;13(4):146-151.
- doi: 10.5808/GI.2015.13.4.146
Previous studies in Holstein have shown 35% to 51.8% heritability in milk production traits, such as milk yield, fat, and protein, using pedigree data. Other studies in complex human traits... -
- CITED
-
- Close
- SHARE
-
- Close
- Extreme septal hypertrophy in an adolescent with congenital familial hypertrophic cardiomyopathy
-
Park BW, Lee MH, Bang DW, Hyon MS
- KMID: 2381604
- Korean J Intern Med.
- 2015 Nov;30(6):940-941.
- doi: 10.3904/kjim.2015.30.6.940
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
-
Jang MA, Lee CW, Kim JK, Ki CS
- KMID: 2363269
- Ann Lab Med.
- 2015 Nov;35(6):639-642.
- doi: 10.3343/alm.2015.35.6.639
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family... -
- CITED
-
- Close
- SHARE
-
- Close
