- DNA damage to human genetic disorders with neurodevelopmental defects
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Lee Y, Choi I, Kim J, Kim K
- KMID: 2327696
- J Genet Med.
- 2016 Jun;13(1):1-13.
- doi: 10.5734/JGM.2016.13.1.1
Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich... -
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- Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
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Choi JY, Yun HH, Lee CG
- KMID: 2327698
- J Genet Med.
- 2016 Jun;13(1):20-25.
- doi: 10.5734/JGM.2016.13.1.20
PURPOSE: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first... -
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- Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates
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Salama RA, Saleh AK
- KMID: 2327699
- J Genet Med.
- 2016 Jun;13(1):26-30.
- doi: 10.5734/JGM.2016.13.1.26
PURPOSE: Genetic disorders can be prevented by basic public health measures and activities that focus primarily on education and approaches in Primary Health Care. Premarital screening is one such approach... -
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- Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
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Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH
- KMID: 2327697
- J Genet Med.
- 2016 Jun;13(1):14-19.
- doi: 10.5734/JGM.2016.13.1.14
PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1... -
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- Two cases of TSC2/PKD1 contiguous gene deletion syndrome
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You J, Kang E, Kim Y, Lee BH, Ko TS, Kim GH, Choi JH, Yoo HW
- KMID: 2327701
- J Genet Med.
- 2016 Jun;13(1):36-40.
- doi: 10.5734/JGM.2016.13.1.36
Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation,... -
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- Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
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Woo H, Ko JM, Shin CH, Yang SW
- KMID: 2327700
- J Genet Med.
- 2016 Jun;13(1):31-35.
- doi: 10.5734/JGM.2016.13.1.31
Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to... -
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- A diagnosis of hypochondroplasia by next generation sequencing
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Ahn SM, Kim YH, Baek JW, Bae EJ, Lee HJ
- KMID: 2327703
- J Genet Med.
- 2016 Jun;13(1):46-50.
- doi: 10.5734/JGM.2016.13.1.46
Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with... -
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- A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
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Kim YM, Kim MK
- KMID: 2327705
- J Genet Med.
- 2016 Jun;13(1):55-58.
- doi: 10.5734/JGM.2016.13.1.55
Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant... -
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- A family with dynamin 2-related centronuclear myopathy without ocular involvement
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Park JS, Kim DS, Shin JH
- KMID: 2327704
- J Genet Med.
- 2016 Jun;13(1):51-54.
- doi: 10.5734/JGM.2016.13.1.51
Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically... -
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- A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
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Park MJ, Lee DH, Shin YL, Hong YH
- KMID: 2327702
- J Genet Med.
- 2016 Jun;13(1):41-45.
- doi: 10.5734/JGM.2016.13.1.41
Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component... -
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