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A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS

BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in...
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BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies

Lee A, Moon BI, Kim TH

Hereditary breast cancer is known for its strong tendency of inheritance. Most hereditary breast cancers are related to BRCA1/BRCA2 pathogenic variants. The lifelong risk of breast cancer in pathogenic BRCA1...
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Prenatal diagnosis of harlequin ichthyosis: a case report

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused...
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Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

Nam SH, Choi BO

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is both genetically and clinically heterogeneous, with variable inheritance modes. With regard to clinical and genetic aspects, CMT...
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Pregnancy and Childbirth Experiences of Women with Epilepsy: A Phenomenological Approach

Joung WJ

PURPOSE: This study sought to understand and describe the pregnancy and childbirth experiences of women with epilepsy (WWE). METHODS: Datawere collected from 2016e2017 through in-depth individual interviews with 12 WWE who...
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The Connection between Charles Darwin's Evolutionary Theory of ‘Heredity of Behaviors’ and the 19th Century Neuroscience: The Influence of Neuroscience on Darwin's Overcoming of Lamarck's Theory of Evolution

Han S

The nineteenth century neuroscience studied the instinct of animal to understand the human mind. In particular, it has been found that the inheritance of unconscious behavior like instinct is mediated...
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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...
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Steatocystoma multiplex: A case report of a rare entity

Shin NY, Kang JH, Kim JE, Symkhampa , Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly...
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NR3C1 Polymorphisms for Genetic Susceptibility to Schizophrenia

Park JS, Lee SM, Kim JW, Kang WS

OBJECTIVES: Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3...
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A Case of Focal Acral Hyperkeratosis with Autosomal Dominant Inheritance

Hong JY, Suh JH, Li K, Seo SJ

  • KMID: 2436848
  • Korean J Dermatol.
  • 2018 Aug;56(7):443-446.
Focal acral hyperkeratosis (FAH) is a rare genodermatosis inherited by autosomal dominant transmission; however, some sporadic cases have also been reported. FAH is characterized by multiple late-onset crateriform hyperkeratotic papules...
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Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Kim K, Park HJ, Lee JH, Hong J, Ahn SW, Choi YC

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee...
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1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

Kim YH, Yang JS, Lee YJ, Bae MH, Park KH, Lee DH, Shin KH, Kim SC

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract,...
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Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families

Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and...
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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

Park JM, Lee YJ, Park JS

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male...
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Clinical genetics of defects in thyroid hormone synthesis

Kwak MJ

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be...
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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...
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Factors associated with the Decision to Withhold Life-Sustaining Treatments among Middle-Aged and Older Adults Who Die in Hospital

Cheon J

PURPOSE: As advanced medical care has resulted in the unintended consequence of prolonging deaths, there is a growing interest in the decision to withhold life-sustaining treatments. The purpose of this...
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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

Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals...
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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Lee JH, Kim HS, Kim GH, Yoo HW

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes...
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Genetics of hereditary nephrotic syndrome: a clinical review

Ha TS

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been...
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