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Hints from a Female Patient with Breast Cancer Who Later Presented with Cowden Syndrome

Wang WC, Hou TC, Kuo CY, Lai YC

A 51-year-old woman presented with metachronous tumor development in bilateral breasts, thyroid, and endometrium. Additional signs and symptoms fulfilled the National Comprehensive Cancer Network criteria for Cowden syndrome. Immunohistochemistry showed...
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Prognostic Value of TP53 Mutation for Transcatheter Arterial Chemoembolization Failure/Refractoriness in HBV-Related Advanced Hepatocellular Carcinoma

Xue M, Wu Y, Fan W, Guo J, Wei J, Wang H, Tan J, Wang Y, Yao W, Zhao Y, Li J

Purpose This study aimed to investigate the clinicopathologic features and mutational landscape of patients with hepatitis B virus (HBV)–related advanced hepatocellular carcinomas (HCC) undergoing transcatheter arterial chemoembolization (TACE). Materials and Methods From January...
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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism

Shin JH, Seo GH, Oh SH, Chung WY, Kim HY, Kim YM, Bae MH, Park KH, Kwak MJ

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe...
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CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy

Lee HG, Yoon BA, Kim YO, Kim MK, Woo YJ

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset...
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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer

Yoon KA, Woo SM, Kim YH, Kong SY, Han SS, Park SJ, Lee WJ

Biliary tract cancer (BTC) is a rare cancer and is associated with a poor prognosis. To understand the genetic characteristics of BTC, we analyzed whole-exome sequencing data and identified somatic...
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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

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....
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Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO

BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean...
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