Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

PUBLICATION DATE

13 results
Display

Family tree database of the National Health Information Database in Korea

Kim YY, Hong HY, Cho KD, Park JH

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
export Copy
Close
SHARE
Twitter Facebook
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

No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

Rekha S, Ramalingam R, Parani M

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
export Copy
Close
SHARE
Twitter Facebook
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

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
export Copy
Close
SHARE
Twitter Facebook
Close
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome

Yazdanpanahi N, Tabatabaiefar MA, Farrokhi E, Abdian N, Bagheri N, Shahbazi S, Noormohammadi Z, Chaleshtori MH

  • KMID: 2278426
  • Clin Exp Otorhinolaryngol.
  • 2013 Dec;6(4):201-208.
OBJECTIVES: The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of G7304A Mutation in the Ryanodine Receptor Type 1 Gene in a Patient with Malignant Hyperthermia and an Extended Pedigree Study in a Korean Malignant Hyperthermia Family

Kim DC, Kim DS

BACKGROUND: Malignant hyperthermia (MH) is a disorder of the skeletal muscle manifested as a life threatening hypermetabolic crisis in susceptible individuals following exposure to inhalation anesthetics and depolarizing muscle relaxants....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
DNA-based Prenatal Diagnosis of Epidermolytic Palmoplantar Keratoderma in Two Pregnancies at Risk in One large Pedigree

Yang JM, Shin JH, Cho MO, Bae DS, Yang SH, Chung JH, Lee JH

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Familial Hearing Loss Associated with mtDNA A1555G Mutation in Korea: 1 Pedigree

Oh SH, Chang SO, Park HJ, Kim DY, Jeon SJ, Lim MJ, Cheong HI, Park HW, Byun SW

  • KMID: 1977713
  • Korean J Otolaryngol-Head Neck Surg.
  • 1999 Nov;42(11):1353-1358.
BACKGROUND AND OBJECTIVES: Familial aminoglycoside-induced deafness has been described in a number of Chinese and Japanese pedigrees. Recently, the familial aminoglycoside-induced ototoxicity is proved to be associated with a mutation...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pedigree of the Specific Family of the FAP in Specific District of Korea and Psychologic Distress

Hur SJ, Lee SH, Park HC, Oh SM, Yoon S, Lee KH

  • KMID: 2142365
  • J Korean Soc Coloproctol.
  • 1999 Oct;15(4):331-338.
Familial Adenomatous Polyposis (FAP) is a rare and autosomal dominantly inherited disorder characterized by the development of hundreds to thousands of colorectal polyps. Korean Polyposis Registry was established in July,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Analysis of Vasopressin Receptor Type 2(A VPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus: Identification of a Fanily with R 202C Mutation in A VPR 2 Gene

Park HW, Park JD, Kim HS, Kim HJ, Lee YK, Ha IS, Cheong HI, Choi Y

  • KMID: 2001758
  • J Korean Soc Pediatr Nephrol.
  • 1999 Oct;3(2):209-216.
Curschmann's spirals morphologically similar to those seen in sputum were found in cervico-vaginal smears of six patients ranged from 28 to 40 years of age, during 18 months from January....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Korean Pedigree of Paget Bone Disease: Including a Case of Panostotic Paget Bone Disease complicated with Giant Cell Reparative Granuloma

Jeong ET, Park JH, Kim DH, Jeong BO, Ko KS, Rhee BD

  • KMID: 2462184
  • J Korean Soc Endocrinol.
  • 1995 Dec;10(4):456-466.
The polyglandular autoimmune syndrome designates the dysfunction of endocrine and nonendocrine system involving two or more organs on the basis of an autoimmune mechanism. The autoimmune nature of these diseases...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Korean Pedigree of Paget Bone Disease

Shong YK, Park JY, Lee KU, Kim GS, Kim SH, Cho JK, Cho YS, Kim HJ, Shin MJ

  • KMID: 2462183
  • J Korean Soc Endocrinol.
  • 1995 Dec;10(4):451-455.
Paget bone disease(PBD) is usually focal, but can be wide spread disorder of the skeletal remodeling characterized by greatly increased osteoclast size and activity. It has extremely variable prevalence worldwide,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pedigree analysis in Korean familial adenomatous polyposis patients: Korean polyposis registry

Park KJ, Park JG, Choi KW, Won CK, Kim KY, Kim SM, Kim YJ, Kim EK, Kim JH, Kim JC, Moon C, Moon HY

  • KMID: 1685469
  • Korean J Gastroenterol.
  • 1992 Oct;24(5):996-1014.
No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr