- Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy
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Shin S, Park SS, Hwang YS, Lee KW, Chung SG, Lee YJ, Park MH
- KMID: 1731242
- J Korean Med Sci.
- 2000 Feb;15(1):93-98.
- doi: 10.3346/jkms.2000.15.1.93
Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are... -
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- Two Cases of Xp21 Contiguous Gene Deletion Syndrome
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Ye GY, Choi HS, Park JM, Lee HJ, Kim WM
- KMID: 2324528
- J Korean Acad Rehabil Med.
- 2007 Apr;31(2):243-247.
On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves... -
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- Identification of Genes Related to Fungicide Resistance in Fusarium fujikuroi
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Choi Y, Jung B, Li T, Lee J
- KMID: 2385658
- Mycobiology.
- 2017 Jun;45(2):101-104.
- doi: 10.5941/MYCO.2017.45.2.101
We identified two genes related to fungicide resistance in Fusarium fujikuroi through random mutagenesis. Targeted gene deletions showed that survival factor 1 deletion resulted in higher sensitivity to fungicides, while... -
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- Detection of Core Gene Deletion and Its Clinical Significance in Chronic Hepatitis B Virus infection
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Kang SY, Kim YS, Lee KG, Lee HJ, Lee WI, Cha SH, Suh JT
- KMID: 2143206
- Korean J Lab Med.
- 2004 Dec;24(6):371-376.
BACKGROUND: In the course of chronic hepatitis B virus (HBV) infections, a point mutation or core gene deletion has been attributed to play a role in persistence of HBV infection.... -
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- The Diagnosis of Duchenne and Becker Muscular Dystrophy: Multiplex-PCR methods
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Moon WN, Kim YC, Choi SK, Ahn JY, Kim DH, Kim IC
- KMID: 2105577
- J Korean Orthop Assoc.
- 1999 Aug;34(4):763-767.
PURPOSE: The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance... -
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- Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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Hyun JK, Jung YJ
- KMID: 2435953
- J Genet Med.
- 2018 Dec;15(2):115-119.
- doi: 10.5734/JGM.2018.15.2.115
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and... -
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- Clinical Implication of the Deletion Status of ABL-BCR on Derivative Chromosome 9 in Chronic Myelogenous Leukemia
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Lee YK, Kim YR, Lee DS, She CJ, Yoon SS, Park SY, Kim BK, Cho HI
- KMID: 2239626
- Korean J Lab Med.
- 2002 Dec;22(6):373-381.
BACKGROUND: The complementary ABL-BCR gene rearrangement is formed at chromosome 9 parallel to the Ph chromosome at der(22)t(9;22), which has been found deleted in a minority of chronic myelogenous leukemia... -
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- Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma: a case report
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Lee SY, Jeon DG, Lee JS, Hwang CS, Huh K, Lee TW, Hong SI
- KMID: 932138
- J Korean Med Sci.
- 1996 Feb;11(1):94-98.
- doi: 10.3346/jkms.1996.11.1.94
It has been well known that the survivors of retinoblastoma are prone to have osteosarcoma. But the secondary tumor usually occurs in bilateral, hereditary type of retinoblastoma. We report one... -
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- Correlation between Genotype and Phenotype in Korean patients with Spinal Muscular Atrophy
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Won SY, Ryu KH, Lee EH, Hahn SH, Pai KS, Kim SH
- KMID: 2007242
- J Korean Child Neurol Soc.
- 1999 Oct;7(1):10-20.
BACKGROUND: Spinal muscular atrophy (SMA) is the second most common disease with autosomal recessive mode of inheritance in children and characterized by degeneration of anterior horn cells of the spinal... -
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- The p16INK4A Expression in Stomach Cancer , Colon Cancer and Hepatoma Cell Lines
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Choi SJ, Kim SK, Kim SJ, Koh CM, Park YS
- KMID: 2329146
- J Korean Cancer Assoc.
- 1998 Jun;30(3):527-535.
PURPOSE: The p16(INK4A) gene encodes a specific inhibitor of cell cycle progression. In recent years, genetic deletion and altered expression of p16(INK4A) gene were frequently showed in many human cancers.... -
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- Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy
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Cho SK, Moon JH, Lee SC, Yoo TW, Ha YR, Park YB, Choi WA
- KMID: 2178490
- J Korean Acad Rehabil Med.
- 2006 Jun;30(3):225-229.
OBJECTIVE: To find correlations between the deletion of dystrophin gene and cognitive status in Duchenne muscular dystrophy (DMD). METHOD: Cognitive abilities of 49 DMD children with dystrophin deletion were tested.... -
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- Diagnosis of x-linked ichthyosis and detection of its carriers with southern blot hybidization
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Han HS, Kim KH, Suhr KB, Lee JH, Park JK
- KMID: 2230869
- Korean J Dermatol.
- 1993 Dec;31(6):857-865.
BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND... -
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- Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
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Kim JS, Lee KS, Kim YI, Lee KH, Kim HT
- KMID: 1779486
- Yonsei Med J.
- 2003 Apr;44(2):336-339.
- doi: 10.3349/ymj.2003.44.2.336
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom... -
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- Submicroscopic Deletions of Immunoglobulin Heavy Chain Gene (IGH) in Precursor B Lymphoblastic Leukemia with IGH Rearrangements
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Huh J, Mun YC, Yoo ES, Seong CM, Chung WS
- KMID: 2363160
- Ann Lab Med.
- 2015 Jan;35(1):128-131.
- doi: 10.3343/alm.2015.35.1.128
Translocations leading to fusions between the immunoglobulin heavy chain gene (IGH) and various partner genes have been reported in B-cell precursor acute lymphoblastic leukemia (B-ALL). However, submicroscopic deletions within IGH... -
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- Detection of alpha-thalassemia-1 Southeast Asian and Thai Type Deletions and beta-thalassemia 3.5-kb Deletion by Single-tube Multiplex Real-time PCR with SYBR Green1 and High-resolution Melting Analysis
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Pornprasert S, Wiengkum T, Srithep S, Chainoi I, Singboottra P, Wongwiwatthananukit S
- KMID: 1735843
- Korean J Lab Med.
- 2011 Jul;31(3):138-142.
- doi: 10.3343/kjlm.2011.31.3.138
BACKGROUND: Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia. METHODS: Single-tube multiplex real-time PCR... -
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- Downregulation of the RUNX3 Gene by Promoter Hypermethylation and Hemizygous Deletion in Breast Cancer
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Hwang KT, Han W, Bae JY, Hwang SE, Shin HJ, Lee JE, Kim SW, Min HJ, Noh DY
- KMID: 1785785
- J Korean Med Sci.
- 2007 Sep;22(Suppl):S24-S31.
- doi: 10.3346/jkms.2007.22.S.S24
The RUNX3 gene is regarded as a tumor suppressor gene in many human solid tumors, and its inactivation is believed to be related with solid tumor carcinogenesis. As little information... -
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- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
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Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P
- KMID: 2397560
- J Bone Metab.
- 2017 Nov;24(4):257-261.
- doi: 10.11005/jbm.2017.24.4.257
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion... -
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- Is Classification of Gastric Cancer According to Distinct Therapeutic Targets Applicable in Clinical Practice?
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Kim KM
- KMID: 1775754
- Korean J Gastroenterol.
- 2013 Aug;62(2):140-141.
- doi: 10.4166/kjg.2013.62.2.140
No abstract available. -
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- A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
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Shin DW, Huh J, Lee HJ, Park WI, Lee KJ, Shin YS, Sjarif DR, Poll-The B
- KMID: 1605945
- J Korean Pediatr Soc.
- 2001 Jan;44(1):83-88.
On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in... -
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- Relationship between Glutathione S Transferase M1 Gene Polymorphism and Endometriosis
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Kim JG, Kim SH, Choi YM, Moon SY, Lee JY
- KMID: 2076845
- Korean J Obstet Gynecol.
- 2003 Mar;46(3):581-586.
OBJECTIVE: To investigate the relationship between glutathione S-transferase M1 (GSTM1) gene polymorphism and endometriosis in Korean women. METHODS: The GSTM1 gene polymorphism was analyzed by GSTM1-specific polymerase chain reaction (PCR) and... -
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