- Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
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Jang JH, Ko JM, Yang SW, Chae JH, Bae EJ
- KMID: 2369027
- J Genet Med.
- 2016 Dec;13(2):99-104.
- doi: 10.5734/JGM.2016.13.2.99
Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects.... -
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- An overview of current knowledge about cell-free RNA in amniotic fluid
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Jung YW, Shin YJ, Shim SH, Cha DH
- KMID: 2369022
- J Genet Med.
- 2016 Dec;13(2):65-71.
- doi: 10.5734/JGM.2016.13.2.65
Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly... -
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- Myotonic dystrophy diagnosed during the perinatal period: A case series report
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Shin YJ, Kim DJ, Park SY, Chung JH, Lee YK, Ryu HM
- KMID: 2369028
- J Genet Med.
- 2016 Dec;13(2):105-110.
- doi: 10.5734/JGM.2016.13.2.105
Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation... -
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- Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
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Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D
- KMID: 2369026
- J Genet Med.
- 2016 Dec;13(2):95-98.
- doi: 10.5734/JGM.2016.13.2.95
We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a... -
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- The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia
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Choe DK, Oh JW, Jun JK, Choi YM
- KMID: 2369025
- J Genet Med.
- 2016 Dec;13(2):89-94.
- doi: 10.5734/JGM.2016.13.2.89
PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement... -
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- Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
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Sohn YB, Yoo HW
- KMID: 2369021
- J Genet Med.
- 2016 Dec;13(2):59-64.
- doi: 10.5734/JGM.2016.13.2.59
Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid β-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in... -
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- Substrate reduction therapy in three patients with Gaucher disease
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Kim SH, Kang E, Kim YM, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH
- KMID: 2369023
- J Genet Med.
- 2016 Dec;13(2):72-77.
- doi: 10.5734/JGM.2016.13.2.72
PURPOSE: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat (Zavesca®) was approved for the treatment of adults... -
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- Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
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Lee BY, Lee SY, Lee YW, Kim SY, Kim JW, Ryu HM, Lee JS, Park SY, Seo JT
- KMID: 2369024
- J Genet Med.
- 2016 Dec;13(2):78-88.
- doi: 10.5734/JGM.2016.13.2.78
PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex... -
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