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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

Park J, Yoo HM, Sul HJ, Shin S, Lee SW, Kim JG

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors....
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Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

Albalawi A, Hashmi JA, Alfadhli F, Almatrafi , Ramzan K, Basit S

No abstract available.
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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
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A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

Namgung DW, Hong JM, Lee JH, Park HJ, Choi YC

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent...
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Association between p53 Expression and Amount of Tumor-Infiltrating Lymphocytes in Triple-Negative Breast Cancer

Lee M, Park IA, Heo SH, Kim YA, Gong G, Lee HJ

BACKGROUND: Most triple-negative breast cancers (TNBCs) have a high histologic grade, are associated with high endoplasmic stress, and possess a high frequency of TP53 mutations. TP53 missense mutations lead to...
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ABO*B3.01 Found in the A1B3 Phenotype Showing ABO Discrepancy: The First Case in Korea

Kim N, Yu H, Lee J, Kim DS, Lee HS, Chung YN, Cho YG, Cho D

B₃ is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a...
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Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
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Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Cascais M, Pereira E, Vieira A, Venâncio , Ramos L, Moleiro P

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of...
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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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Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

Kim HJ, Nam MS, Choo HK, Kim SH

PURPOSE: To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history. CASE SUMMARY: A 51-year-old female patient without any...
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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...
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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

Kim SY, Lee Y, Kang YE, Kim JM, Joung KH, Lee JH, Kim KS, Kim HJ, Ku BJ, Shong M, Yi HS

BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely...
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Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene

Roh D, Kim TW, Park SM, Lee HJ, Jin H, You HS, Shim WH, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC

  • KMID: 2436881
  • Korean J Dermatol.
  • 2018 Sep;56(8):494-498.
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this...
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Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1

Cho H, Lee JW, Chung NG, Lee SE, Jang W, Kim M, Han K, Kim Y

Hereditary spherocytosis (HS) is caused by mutations in the SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes, all of which encode erythrocyte membrane proteins. Mutations in SLC4A1, which encodes band 3...
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A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong S, Lee CG

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused...
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism

Moon JE, Lee SJ, Park SH, Kim J, Jin DK, Ko CW

Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions,...
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Genetic Ablation of EWS RNA Binding Protein 1 (EWSR1) Leads to Neuroanatomical Changes and Motor Dysfunction in Mice

Yoon Y, Park H, Kim S, Nguyen PT, Hyeon SJ, Chung S, Im H, Lee J, Lee SB, Ryu H

A recent study reveals that missense mutations of EWSR1 are associated with neurodegenerative disorders such as amyotrophic lateral sclerosis, but the function of wild-type (WT) EWSR1 in the central nervous...
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A Case of Dopa-responsive Dystonia with a Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy for 2 Years

Yi CH, Yang HJ, Kim HJ, Lee KY

Dopa-responsive dystonia (DRD) is characterized by lower limb-onset, diurnally fluctuating dystonia and dramatic and sustained response to levodopa treatment. Segawa disease, an autosomal dominant deficiency of guanosine triphosphate cyclohydrolase 1...
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Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Choi JY, Kim SE, Lee SE, Kim SC

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential...
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X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

Lee JM, Shin JH

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not...
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