- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear... -
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- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
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Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS
- KMID: 1104807
- Exp Mol Med.
- 2008 Oct;40(5):533-540.
- doi: 10.3858/emm.2008.40.5.533
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause... -
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- F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients
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Jung YY, Ha HI, Jung SH, Lee MG, Lee HW, Yoon JH, Choi JW, Yeh BI
- KMID: 755114
- Exp Mol Med.
- 2001 Mar;33(1):29-31.
Mutations of the transmembrane conductance regulator (CFTR) gene in cystic fibrosis lead to dysfunction of the lung, pancreas, and sweat glands, etc. To investigate the possibility of the relationship between... -
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- Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome
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Lee YH, Kim T, Kim MH, Kim YT, Kim SH
- KMID: 755105
- Exp Mol Med.
- 2000 Dec;32(4):231-234.
The objective of this study was to elucidate the cause of the spermatogenic defect in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome. Genomic DNAs from 9 cases... -
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- The Common NF-kappaB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti
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Song MJ, Chae JH, Park EA, Ki CS
- KMID: 2157858
- J Korean Med Sci.
- 2010 Oct;25(10):1513-1517.
- doi: 10.3346/jkms.2010.25.10.1513
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-kappa B essential... -
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- Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy
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Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW
- KMID: 1107517
- J Korean Med Sci.
- 2008 Dec;23(6):959-963.
- doi: 10.3346/jkms.2008.23.6.959
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD... -
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- Development of thymic lymphomas in mice disrupted of Brca2 allele in the thymus
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Park PG, Lee H
- KMID: 756336
- Exp Mol Med.
- 2008 Jun;40(3):339-344.
- doi: 10.3858/emm.2008.40.3.339
Germ-line mutations in BRCA2 predispose to early-onset cancer. Homozygous mutant mouse, which has Brca2 truncated in exon 11 exhibit paradoxic occurrence of growth retardation and development of thymic lymphomas. However,... -
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