- Mutation at exon 10 of the fibroblast growth factor receptor 3 (FGFR3) in a fetus with thanatophoric dysplasia type I (TDI)
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Yang WK, Park WI, Ko DS, Kim SH, Kim EK, Lee HJ
- KMID: 2261540
- Korean J Obstet Gynecol.
- 1999 Oct;42(10):2214-2220.
Thanatophoric dysplasia (TD) is a sporadic lethal type of skeletal dysplasia featuring micromelia, decreased thoracic dimension and macrocephaly. To date, several kinds of mutation in fibroblast growth factor receptor 3... -
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- Mutation Analysis in Fibroblast Growth Factor Receptor 3 Gene in Korean Children with Simple Craniosynostosis
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Park B, Son D, Kim D, Han K
- KMID: 2144764
- J Korean Soc Plast Reconstr Surg.
- 2001 Nov;28(6):637-640.
The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9... -
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- Expression of Fibroblast Growth Factor Receptor 3 in the Recurrence of Non-Muscle-Invasive Urothelial Carcinoma of the Bladder
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Maeng YH, Eun SY, Huh JS
- KMID: 2314806
- Korean J Urol.
- 2010 Feb;51(2):94-100.
PURPOSE: The fibroblast growth factor receptor 3 (FGFR3) gene is known to be frequently mutated in noninvasive urothelial carcinomas of the bladder. In this study, we investigated the expression of... -
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- A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
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Noe EJ, Yoo HW, Kim KN, Lee SY
- KMID: 1455879
- Korean J Pediatr.
- 2010 Dec;53(12):1022-1025.
- doi: 10.3345/kjp.2010.53.12.1022
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head... -
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- Mutation analysis of Fibroblast Growth Factor Receptor 3 (FGFR3) Gene in Korean Patients with Achondroplasia and Hypochondroplasia
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Shin S, Choi IH, Cho TJ, Ryang SW, Yoon KY, Kim J, Park SS
- KMID: 2089674
- Korean J Clin Pathol.
- 2001 Apr;21(2):164-168.
BACKGROUND: Achondroplasia is the most common form of dwarfism. The achondroplasia class consists of achondroplasia, thanatophoric dysplasia and hypochondroplasia. Clinical symptoms are variable, but the common gene, fibroblast growth factor... -
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- Microarray Analysis of Gene Expression During Differentiation of Human Mesenchymal Stem Cells Treated with Vitamin E in vitro into Osteoblasts
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Ahn KH, Jung HK, Jung SE, Yi KW, Park HT, Shin JH, Kim YT, Hur JY, Kim SH, Kim T
- KMID: 2300157
- Korean J Bone Metab.
- 2011 May;18(1):23-32.
OBJECTIVE: Supplementation with vitamin E is able to protect bone against free radical-induced elevation of bone-resorbing cytokines. We examined gene expression by microarray analysis during the differentiation of human mesenchymal... -
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- Fibroblast Growth Factor Receptor 1 Overexpression Is Associated with Poor Survival in Patients with Resected Muscle Invasive Urothelial Carcinoma
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Lim S, Koh MJ, Jeong HJ, Cho NH, Choi YD, Cho DY, Lee HY, Rha SY
- KMID: 2374112
- Yonsei Med J.
- 2016 Jul;57(4):831-839.
- doi: 10.3349/ymj.2016.57.4.831
PURPOSE: To examine the usefulness of various receptor tyrosine kinase expressions as prognostic markers and therapeutic targets in muscle invasive urothelial cancer (UC) patients. MATERIALS AND METHODS: We retrospectively analyzed the... -
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- Novel Biomarkers for Prediction of Response to Preoperative Systemic Therapies in Gastric Cancer
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Cavaliere , Merz V, Casalino S, Zecchetto , Simionato , Salt HL, Contarelli S, Santoro R, Melisi D
- KMID: 2466027
- J Gastric Cancer.
- 2019 Dec;19(4):375-392.
- doi: 10.5230/jgc.2019.19.e39
Preoperative chemo- and radiotherapeutic strategies followed by surgery are currently a standard approach for treating locally advanced gastric and esophagogastric junction cancer in Western countries. However, in a large number... -
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- Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases
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Kwak DW, Kim HJ, Park SY, Ahn HS, Chae YH, Kim MY, Lee YH, Ryu HM
- KMID: 2055577
- J Genet Med.
- 2013 Jun;10(1):38-42.
- doi: 10.5734/JGM.2013.10.1.38
PURPOSE: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to... -
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- Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)
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Park KE, Kim SA, Kang MJ, Kim HS, Cho SI, Yoo KW, Kim SY, Lee HJ, Oh SK, Seong MW, Ku SY, Jun JK, Park SS, Choi YM, Moon SY
- KMID: 1430083
- Clin Exp Reprod Med.
- 2013 Mar;40(1):42-46.
- doi: 10.5653/cerm.2013.40.1.42
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a... -
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- A Korean Family with the Muenke Syndrome
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Yu JE, Park DH, Yoon SH
- KMID: 1792963
- J Korean Med Sci.
- 2010 Jul;25(7):1086-1089.
- doi: 10.3346/jkms.2010.25.7.1086
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor... -
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- A Case of Central Nervous System Myelomatosis with Complex Chromosome Aberrations
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Bang HI, Yoo JY, Kim KH, Park R, Shin JW, Choi TY, Lee SC, Park HS, Won JH
- KMID: 1781637
- Korean J Lab Med.
- 2010 Aug;30(4):334-338.
- doi: 10.3343/kjlm.2010.30.4.334
Involvement of the central nervous system is very uncommon in multiple myeloma, observed in approximately 1% of the multiple myeloma patients. We report a case of central nervous system myelomatosis... -
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