논문KCI 등재
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)
1
조회
0
다운로드
0
인용
0
참고문헌
주제분류병리학
참고문헌 (10)
- Chang TC, "Axenfeld-Rieger syndrome: new perspectives", Br J Ophthalmol, 96, pp.318~322 (2012)[DOI]
- Tumer Z, "Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations", Eur J Hum Genet, 17, pp.1527~1539 (2009)[DOI]
- Hjalt TA, "Current molecular understanding of Axenfeld-Rieger syndrome", Expert Rev Mol Med, 7, pp.1~17 (2005)
- Semina EV, "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome", Nat Genet, 14, pp.392~399 (1996)[DOI]
- Reis LM, "PITX2 and FOXC1 spectrum of mutations in ocular syndromes", Eur J Hum Genet, 20, pp.1224~1233 (2012)[DOI]
- Kim GN, "A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome", Mol Vis, 19, pp.935~943 (2013)
- 양희정, "A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings", Korean Journal of Ophthalmology, 29(4), pp.249~255 (2015), 대한안과학회
- 윤재원, "Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome", Annals of Laboratory Medicine, 33(5), pp.360~363 (2013), 대한진단검사의학회
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)[DOI]
- Allingham RR, "Shields textbook of glaucoma. 6th ed", pp.2011, Wolters Kluwer Health
관련 논문AI추천
Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome기창석, 기창원, 오수영, 윤재원, 조현경대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제5호A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings목지원, 문정일, 박명희, 양희정, 이유경, 주천기대한안과학회 · Korean Journal of Ophthalmology2015 · 제29권 제4호Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet–Biedl Syndrome with Rod-Cone Dystrophy: A Case ReportHan Jo Kwon, Iksoo Byon, Jun Heo, Sung Who Park, Young Hwan Jeong대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제6호KIF11-related Retinopathy with Microcephaly: Two Case ReportsDongyoung Lee, Sang Jin Kim, Sungsoon Hwang대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제3호Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile- onset Ectopia Lentis김성은, 박신혜, 신선영, 염혜리대한안과학회 · Korean Journal of Ophthalmology2015 · 제29권 제1호Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case ReportDongheon Surl, Jinu Han, Minha Kim, Yuri Seo대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제6호
이 간행물의 다른 논문 (16건)
Characteristics and Immunological Roles of Surface Layer Proteins in Clostridium difficileNobuaki Mori, Takashi Takahashipp. 189-195Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience김기현, 정현애, 장미애, 김선희pp. 196-203Prognostic Role of High-sensitivity Cardiac Troponin I and Soluble Suppression of Tumorigenicity-2 in Surgical Intensive Care Unit Patients Undergoing Non-cardiac Surgery김자연, 이아람, 김한아, 허미나, 양현숙pp. 204-211Molecular Epidemiological Features and Antibiotic Susceptibility Patterns of Streptococcus dysgalactiae subsp. equisimilis Isolates from Korea and JapanTakashi Takahashi, Yuzo Tsuyuki, Tomohiro Fujita, Haruno Yoshida, Akiyoshi Shibayama, 변정현, 이재현, 김선주, 박현웅pp. 212-219Evaluation of a New Multiplex Real-Time PCR Assay for Detecting Gastroenteritis-Causing Viruses in Stool Samples현정원, 김현수, 이수경, 송원근, 김한성, 김재석, 고대현pp. 220-225
