- Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
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Kim YH, Joo KS, Seong MW, Park SS, Woo SJ
- KMID: 2469294
- Korean J Ophthalmol.
- 2020 Feb;34(1):94-95.
- doi: 10.3341/kjo.2019.0083
No abstract available. -
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- Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
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Kim MK, Kwak SH, Kang S, Jung HS, Cho YM, Kim SY, Park KS
- KMID: 2174018
- Diabetes Metab J.
- 2015 Oct;39(5):439-443.
- doi: 10.4093/dmj.2015.39.5.439
BACKGROUND: Alstrom syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alstrom syndrome is caused by a mutation in the ALMS1 gene,... -
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- Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea
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Yoon SC, Lee HJ, Ko JM, Kang HG, Cheong HI, Yu HG, Kim JH
- KMID: 1737961
- J Genet Med.
- 2014 Jun;11(1):31-35.
- doi: 10.5734/JGM.2014.11.1.31
Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning... -
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- A Case of Interstitial Deletion [del(6)(q21q23)] with type 2 diabetes Mellitus and Mental Retardation
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Jung YD, Cho SJ, Kim HJ, Yoon WC, Yeo DG, Park JK, Lee JH, Shon HS
- KMID: 2177915
- J Korean Diabetes Assoc.
- 2000 Apr;24(2):281-284.
Chromosomal abnormalities such as Klinefelter syndrome, Down syndrome, Turner syndrome, Prader-Willi, Bardet-Biedl syndrome were associated with diabetes mellitus. Over 30 cases of interstitial deletions of the long arm of chromosome... -
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- Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
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Shin SJ, Kim M, Chae H, Kwon A, Kim Y, Kim SJ, Yoon HE, Jekarl DW, Lee S
- KMID: 2363175
- Ann Lab Med.
- 2015 Jan;35(1):181-184.
- doi: 10.3343/alm.2015.35.1.181
No abstract available. -
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- A case of McKusick-Kaufman syndrome
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Son SH, Kim YJ, Kim ES, Kim EK, Kim HS, Kim BI, Choi JH
- KMID: 2284872
- Korean J Pediatr.
- 2011 May;54(5):219-223.
- doi: 10.3345/kjp.2011.54.5.219
McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was... -
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- Primary Cilia as a Signaling Platform for Control of Energy Metabolism
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Song DK, Choi JH, Kim MS
- KMID: 2418703
- Diabetes Metab J.
- 2018 Apr;42(2):117-127.
- doi: 10.4093/dmj.2018.42.2.117
Obesity has become a common healthcare problem worldwide. Cilia are tiny hair-like organelles on the cell surface that are generated and anchored by the basal body. Non-motile primary cilia have... -
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- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
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Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ
- KMID: 2456270
- J Korean Med Sci.
- 2019 Jun;34(21):e161.
- doi: 10.3346/jkms.2019.34.e161
BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date,... -
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