- Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy
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Lee BY, Park SY, Lee MH, Kim JW, Park JY, Choi EY, Lee YW, Oh AR, Lee SY, Kim MH, Ryu HM
- KMID: 2244898
- J Genet Med.
- 2009 Jun;6(1):95-99.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level... -
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- A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma
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Song JH, Sun DS, Kim H, Lee YH, Hong YH, Lee DH
- KMID: 2244897
- J Genet Med.
- 2009 Jun;6(1):91-94.
Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome... -
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- A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation
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Lee BH, Kim JM, Lee JJ, Kim GH, Yoo HW
- KMID: 2244896
- J Genet Med.
- 2009 Jun;6(1):87-90.
Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other... -
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- A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia
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Ko JM, Kwack KS, Baek KN, Cho DY, Kim HJ
- KMID: 2244895
- J Genet Med.
- 2009 Jun;6(1):81-86.
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and... -
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- Integrated Test for Screening in Down Syndrome as a Predictor of Adverse Pregnancy Outcomes
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Park SW, Kang JH, Lee KJ, Jun HS, Kang MS, Huh JY, Cha DH
- KMID: 2244894
- J Genet Med.
- 2009 Jun;6(1):74-80.
PURPOSE: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy... -
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- Correlation between Karyotype and Phenotype in Turner Syndrome
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Shim YJ, Hwang YJ, Lee KS
- KMID: 2244893
- J Genet Med.
- 2009 Jun;6(1):67-73.
PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical... -
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- A Cytogenetic Analysis of Abortus with Spontaneous Abortion
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Hwang SM, Kwon KH, Yoon KA, Oh SK
- KMID: 2244892
- J Genet Med.
- 2009 Jun;6(1):62-66.
PURPOSE: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries... -
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- The Y153H Variant of the STOX1 Gene in Korean Patients with Preeclampsia
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Kim SY, Park SY, Lim JH, Yang JH, Kim MY, Park HY, Lee KS, Kim YJ
- KMID: 2244891
- J Genet Med.
- 2009 Jun;6(1):56-61.
PURPOSE: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be... -
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- A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea.
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Choi JY, Kim HJ
- KMID: 2244890
- J Genet Med.
- 2009 Jun;6(1):38-55.
PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS... -
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- Genetics of Hereditary Peripheral Neuropathies
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Cho SY, Choi BO
- KMID: 2244889
- J Genet Med.
- 2009 Jun;6(1):25-37.
Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into... -
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- Genetic Background of Congenital Hearing Loss
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Oh SH, Song JJ
- KMID: 2244888
- J Genet Med.
- 2009 Jun;6(1):8-24.
Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative... -
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- DNA Methylation Changes in Human Cancers
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Kwon HJ, Kang GH
- KMID: 2244887
- J Genet Med.
- 2009 Jun;6(1):1-7.
Epigenetic changes represented by promoter CpG island hypermethylation and histone modification are an important carcinogenetic mechanism, which is found in virtually all histologic types of human cancer. About 60-70% of... -
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