Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

167 results
Display

Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea

Kim J, Kong SY, Han SH, Kim JW, Jeon CH, Yoo J

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review

Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH

PURPOSE: We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND METHODS: Two hundred seventy-nine KoOC patients were enrolled from three university hospitals...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The influence of BRCA variants of unknown significance on cancer risk management decision-making

Chern JY, Lee SS, Frey MK, Lee J, Blank SV

OBJECTIVE: To compare gynecological cancer risk management between women with BRCA variants of unknown significance (VUS) to women with negative genetic testing METHODS: Ninety-nine patients whose BRCA genetic testing yielded VUS...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetic regulation of linear growth

Yue S, Whalen P, Jee YH

Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Knowledge and Anxiety Related to Hereditary Ovarian Cancer in Serous Ovarian Cancer Patients

Lee SH, Lee H, Lim MC, Kim S

PURPOSE: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T

Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

Koohiyan M, Azadegan-Dehkordi F, Koohian F, Hashemzadeh-Chaleshtori M

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer

Lee YJ, Kim D, Kim HS, Na K, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT

PURPOSE: Few efforts have been made to integrate a next generation sequencing (NGS) panel into standard clinical treatment of ovarian cancer. The aim of this study was to investigate the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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

BACKGROUND: Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea

Son MJ, Kim MK, Yang KM, Choi BH, Lee BW, Yoo SH

BACKGROUND: There has been a campaign by the National Education on Sleeping Habits and Living Environment, to reduce the incidence of sudden infant death syndrome (SIDS). However, more than 100...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube

Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim JH, Lee KC, Lee S, Lee JH

OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Principles of Genetic Counseling in the Era of Next-Generation Sequencing

Yang M, Kim JW

Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

Kuroda S, Usui K, Mori K, Yasuda K, Asai T, Sanjo H, Yakanaka H, Takeshima , Kawahara T, Hamanoue H, Kato Y, Miyoshi Y, Uemura H, Iwasaki A, Yumura Y

We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetic overgrowth syndrome: A single center's experience

Cheon CK, Kim YM, Yoon JY, Kim YA

PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Integrated diagnostic approach of pediatric neuromuscular disorders

Lee HN, Lee YM

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

Lee CY, Lee NM, Yi DY, Yun SW, Chae SA, Lim IS, Kim GJ

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr