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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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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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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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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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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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Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family

Zheng Y, Liu F, Yang Y, Liang Y

No abstract available.
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A Case of Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome with Missense Mutation in TP63 1657(th)

Kim YS, Hwang TH, Park SJ, Lee HJ, Kim SH, Kim CH, Lee JH, Lee JS, Choi S

Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63...
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Cap Myopathy With a Heterozygous TPM3 Missense Mutation

Jung Y, Park YE, Shin JH, Lee CH, Kim DS

Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic...
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Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Choi BW, Park S, Kim HJ

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane...
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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....
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A Novel Missense Mutation of Keratin 17 Gene in a Chinese Family with Steatocystoma Multiplex

Ha WW, Wang J, Wang W, Fu HY, Tang HY, Tang XF, Zhu J, Yin XY, Yang S, Zhang XJ

No abstract available.
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Comparison of Clinical and Electrophysiological Characteristics between CMTX with Cx32 Missense Mutation and CMT1A with PMP22 Duplication

Choi BO, Chung KW, Park KD, Kim SM, Shin SH, Sunwoo IN

  • KMID: 1956950
  • J Korean Neurol Assoc.
  • 2004 Jun;22(3):226-234.
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. Connexin32 (Cx32) gene mutations on Xq13.1 cause the X-linked form of CMT disease, and PMP22 gene duplication on 17p11.2-p12...
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X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene

Choi BO, Sunwoo IN, Park KD, Kim YJ, Choi KG, Lee MS, Hwang JH, Chung KW

  • KMID: 2185720
  • J Korean Neurol Assoc.
  • 2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected...
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Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene

Yang JH, Park MH, Kim DS, Shim JW, Shim JY, Jung HL, Park MS, Yoo HW

  • KMID: 2197726
  • J Korean Soc Pediatr Nephrol.
  • 2003 Apr;7(1):86-90.
An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was...
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A Family with A Missense Mutation in the SCN5A Gene

Shin CH, Kim NH, Kim KH, Yoo SS, Choi YB, Oh SK, Hong KM, Jeong JW, Paik MK

Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations...
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A Novel Mutation (C67Y) in the NOTCH3 Gene in a Korean CADASIL Patient

Na DL, Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL

We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel...
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Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course

Cho JT, Guay-Woodford LM

Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of...
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Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea

Hwang HS, Hwang JH, Kim HS, Kim NK, Kim SJ, Lee CC, Chung KW

  • KMID: 1540016
  • J Genet Med.
  • 1998 Dec;2(2):65-70.
Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2...
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