- Biomarkers and genetic factors for early prediction of pre-eclampsia
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Kim H, Shim SS
- KMID: 2401805
- J Genet Med.
- 2017 Dec;14(2):49-55.
- doi: 10.5734/JGM.2017.14.2.49
Pre-eclampsia is known to cause considerable maternal morbidity and mortality. Thus, many studies have examined the etiopathogenesis of pre-eclampsia. While many pathophysiological factors related to pre-eclampsia have been identified, the... -
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- Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
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Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH
- KMID: 2401810
- J Genet Med.
- 2017 Dec;14(2):75-79.
- doi: 10.5734/JGM.2017.14.2.75
Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a... -
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- The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
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Lee ES, Ko JM, Moon JS
- KMID: 2401812
- J Genet Med.
- 2017 Dec;14(2):86-89.
- doi: 10.5734/JGM.2017.14.2.86
Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS... -
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- Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
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Kim YA, Kim JY, Kim YM, Cheon CK
- KMID: 2401811
- J Genet Med.
- 2017 Dec;14(2):80-85.
- doi: 10.5734/JGM.2017.14.2.80
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal... -
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- Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2
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Kim HJ, Seo GH, Kim YM, Kim GH, Seo EJ, Ra YS, Choi JH, Yoo HW, Lee BH
- KMID: 2401806
- J Genet Med.
- 2017 Dec;14(2):56-61.
- doi: 10.5734/JGM.2017.14.2.56
PURPOSE: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene.... -
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- A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
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Algahtani , Shirah B
- KMID: 2401809
- J Genet Med.
- 2017 Dec;14(2):71-74.
- doi: 10.5734/JGM.2017.14.2.71
Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy,... -
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- Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature
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Yang SD, Lee SJ, Lee DH, Hong YH
- KMID: 2401808
- J Genet Med.
- 2017 Dec;14(2):67-70.
- doi: 10.5734/JGM.2017.14.2.67
Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain... -
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- Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family
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Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Park SY, Ryu HM, Lee SW
- KMID: 2401807
- J Genet Med.
- 2017 Dec;14(2):62-66.
- doi: 10.5734/JGM.2017.14.2.62
Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16... -
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