- Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly
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Lee JS, Choi JH, Lee YW, Gang MH, You SK, Shin HD, Chang MY
- KMID: 2421578
- Perinatology.
- 2018 Sep;29(3):128-132.
- doi: 10.14734/PN.2018.29.3.128
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and anomalies of the face and extremities. A female newborn showing ocular proptosis and... -
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- A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
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Lee MY, Jeon GW, Jung JM, Sin JB
- KMID: 2073610
- Korean J Pediatr.
- 2010 Jul;53(7):774-777.
- doi: 10.3345/kjp.2010.53.7.774
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live... -
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- A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation
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Kim HS, Yang PS, Kang JY, Kim OY, Ku CH, Lee WM
- KMID: 2335506
- J Korean Pediatr Soc.
- 2000 Jul;43(7):1006-1011.
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was... -
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- A Case of FGFR2 Exon lllc Mutation in Crouzon Syndrome
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Bae SC, Lee EH, Park MS, Hahn SH, Hong CH
- KMID: 2104438
- J Korean Pediatr Soc.
- 1998 Dec;41(12):1717-1721.
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2 (FGFR2) gene are associated... -
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- Isotretinoin Treatment for the Recalcitrant Acne on a Patient with Apert Syndrome
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Byun J, Han S, Yang BH, Song HJ, Lee HS, Lee SG, Shin J, Choi GS
- KMID: 2301953
- Korean J Dermatol.
- 2009 Oct;47(10):1196-1198.
Apert syndrome is a rare genetic craniofacial disorder associated with premature fusion of multiple cranial sutures and syndactyly. It is caused by mutation in the fibroblast growth factor receptor 2... -
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- Effects of Retinoic Acid on the Cell Proliferating Activity and the Expression of Fibroblast Growth Factor 2, Fibroblast Growth Factor Receptor 2 during Palatal Development of Mice
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Bae ST, Kim H, Kim KR
- KMID: 2030738
- Korean J Anat.
- 2001 Feb;34(1):41-55.
Retinoic acid plays an important role in embryogenesis, by regulating morphogenesis, cell proliferation, differentiation, and extracellular matrix production. Also retinoic acid is a potent teratogen and induces a variety of... -
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- Case-Control Study on the Fibroblast Growth Factor Receptor 2 Gene Polymorphisms Associated with Breast Cancer in Chinese Han Women
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Liu CL, Hu XP, Guo WD, Yang L, Dang J, Jiao HY
- KMID: 1976373
- J Breast Cancer.
- 2013 Dec;16(4):366-371.
- doi: 10.4048/jbc.2013.16.4.366
PURPOSE: Genetic variation in fibroblast growth factor receptor 2 (FGFR2) is a newly described risk factor for breast cancer. This study aimed to evaluate the association of four single nucleotide... -
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- Apert and Pfeiffer Syndromes: A Report of Two Cases
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Yoon SY, Yoon SW, Chung H
- KMID: 1961837
- J Korean Child Neurol Soc.
- 2013 Sep;21(3):200-207.
Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes... -
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- KR-31831, a new synthetic anti-ischemic agent, inhibits in vivo and in vitro angiogenesis
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Yi EY, Park SY, Song HS, Son MJ, Yi KY, Yoo SE, Kim YJ
- KMID: 1098084
- Exp Mol Med.
- 2006 Oct;38(5):502-508.
Angiogenesis is considered to be an integral process to the growth and spread of solid tumors. Anti-angiogenesis therapy recently has been found to be one of the most promising anti-cancer... -
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- The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH
- KMID: 1713200
- J Korean Med Sci.
- 2007 Apr;22(2):352-356.
- doi: 10.3346/jkms.2007.22.2.352
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features.... -
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- Prognosis of Pregnancy-Associated Gastric Cancer: An Age-, Sex-, and Stage-Matched Case-Control Study
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Song MJ, Park YS, Song HJ, Park SJ, Ahn JY, Choi KD, Lee GH, Jung HY, Yook JH, Kim BS
- KMID: 2412070
- Gut Liver.
- 2016 Sep;10(5):731-738.
- doi: 10.5009/gnl15323
BACKGROUND/AIMS: Pregnancy-associated gastric cancer is a rare condition. This case-control study was performed to identify the clinicopathological features and prognostic factors of pregnancy-associated gastric cancer. METHODS: All consecutive patients who presented... -
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- Generation of a transgenic mouse model to study cranial suture development; Apert syndrome
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Lee KJ, Ratisoontorn C, Baik HS, Park YC, Park KK, Nah HD
- KMID: 1976478
- Korean J Orthod.
- 2003 Dec;33(6):485-497.
The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of... -
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- Prenatal Ultrasonographic and Molecular Diagnosis of Apert Syndrome: A case report
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Park SN, Lee KA, Park MH, Kim YJ, Ahn JJ, Kim JI, Chun SH
- KMID: 2272776
- Korean J Obstet Gynecol.
- 2006 Jan;49(1):194-200.
Apert Syndrome is a kind of developmental disorder characterized by the craniosynostosis by synostosis of the coronal suture, bilateral symmetric syndactyly of the limbs (mitten-like hands and feet), midfacial hypoplasia,... -
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