메뉴 건너뛰기




Volumn 27, Issue 11, 2007, Pages 1069-1071

Perinatal diagnosis of a lymphedema-distichiasis syndrome (LD)

Author keywords

Distichiasis; Lymphedema; Ultrasound

Indexed keywords

ADULT; APGAR SCORE; ARTERY THROMBOSIS; ARTICLE; AUTOPSY; BACTEREMIA; CASE REPORT; CESAREAN SECTION; CIGARETTE SMOKING; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DOPPLER FLOWMETER; DUCTUS ARTERIOSUS; ECHOCARDIOGRAPHY; FEMALE; FETUS KARYOTYPING; GENERALIZED EDEMA; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LYNPHEDEMA DISTICHIASIS SYNDROME; MANDIBULOFACIAL DYSOSTOSIS; MEIGE DISEASE; MILROY DISEASE; NOONAN SYNDROME; PERINATAL CARE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING; ULTRASOUND; WEBBED NECK;

EID: 36148979328     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1832     Document Type: Article
Times cited : (3)

References (10)
  • 1
    • 17844375103 scopus 로고    scopus 로고
    • Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throghout the gene
    • Bell R, Brice G, Child AH, et al. 2001. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throghout the gene. Hum Genet 108(6): 546-552.
    • (2001) Hum Genet , vol.108 , Issue.6 , pp. 546-552
    • Bell, R.1    Brice, G.2    Child, A.H.3
  • 2
    • 18444378418 scopus 로고    scopus 로고
    • Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
    • Brice G,Mansour S, Bell R, et al. 2002. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39(7): 478-483.
    • (2002) J Med Genet , vol.39 , Issue.7 , pp. 478-483
    • Brice, G.1    Mansour, S.2    Bell, R.3
  • 3
    • 0141923661 scopus 로고    scopus 로고
    • Mutation of the FOXC2 gene in familial distichiasis
    • Brooks BP, Dagenais SL, Nelson CC, et al. 2003. Mutation of the FOXC2 gene in familial distichiasis. J AAPOS 7(5): 354-357.
    • (2003) J AAPOS , vol.7 , Issue.5 , pp. 354-357
    • Brooks, B.P.1    Dagenais, S.L.2    Nelson, C.C.3
  • 4
    • 28544444994 scopus 로고    scopus 로고
    • Hydrops fetalis: An unusual prenetal presentation of hereditary congenital lymphedema
    • Daniel-Spiegel E, Ghalamkarpour A, Spiegel R, et al. 2005. Hydrops fetalis: an unusual prenetal presentation of hereditary congenital lymphedema. Prenat Diagn 25(11): 1015-1018.
    • (2005) Prenat Diagn , vol.25 , Issue.11 , pp. 1015-1018
    • Daniel-Spiegel, E.1    Ghalamkarpour, A.2    Spiegel, R.3
  • 5
    • 0033646615 scopus 로고    scopus 로고
    • Mutations in FOXC2 (MFH-1), a forkhead family transcroption factor, are responsible for the hereditary lymphedema-distichiasis syndrome
    • Fang J, Dagnais SL, Erickson RO, et al. 2000. Mutations in FOXC2 (MFH-1), a forkhead family transcroption factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 67(6): 1382-1388.
    • (2000) Am J Hum Genet , vol.67 , Issue.6 , pp. 1382-1388
    • Fang, J.1    Dagnais, S.L.2    Erickson, R.O.3
  • 6
    • 0038353732 scopus 로고    scopus 로고
    • Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichiosis-lymphedema-telangiectasia
    • Irrthum A, Devriendt K, Chitayat D, et al. 2003.. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichiosis-lymphedema-telangiectasia. Am J Hum Genet 72(6): 1470-1478.
    • (2003) Am J Hum Genet , vol.72 , Issue.6 , pp. 1470-1478
    • Irrthum, A.1    Devriendt, K.2    Chitayat, D.3
  • 7
    • 33847245365 scopus 로고    scopus 로고
    • A family with lymphoedema-distichiasis where identical twins have a discordant phenotype
    • Kumar S, Carver C, McCall S, et al. 2007. A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. Clin Genet 71(3): 285-287.
    • (2007) Clin Genet , vol.71 , Issue.3 , pp. 285-287
    • Kumar, S.1    Carver, C.2    McCall, S.3
  • 8
    • 33646020373 scopus 로고    scopus 로고
    • Prenatal phenotypic overlap of Costello Syndrome and severe Noonan Syndrome by tri-dimensional ultrasonography
    • Levaillant JM, Gerard-Blanluet M, Holder-Espinasse M, et al. 2006. Prenatal phenotypic overlap of Costello Syndrome and severe Noonan Syndrome by tri-dimensional ultrasonography. Prenat Diagn 26(4): 340-344.
    • (2006) Prenat Diagn , vol.26 , Issue.4 , pp. 340-344
    • Levaillant, J.M.1    Gerard-Blanluet, M.2    Holder-Espinasse, M.3
  • 9
    • 32444445771 scopus 로고    scopus 로고
    • Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia
    • Stevenson DA, Pysher TJ, Ward RM, Carey JC. 2006. Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia. Am J Med Genet A 140(4): 368-372.
    • (2006) Am J Med Genet A , vol.140 , Issue.4 , pp. 368-372
    • Stevenson, D.A.1    Pysher, T.J.2    Ward, R.M.3    Carey, J.C.4
  • 10
    • 0036808733 scopus 로고    scopus 로고
    • Lymphedema-distichiasis syndrome and FOXC2 gene mutation
    • Traboulsi EI, Al-Khayer K, Matsumoto M, et al. 2002. Lymphedema-distichiasis syndrome and FOXC2 gene mutation. Am J Ophthalmol 134(4): 592-596.
    • (2002) Am J Ophthalmol , vol.134 , Issue.4 , pp. 592-596
    • Traboulsi, E.I.1    Al-Khayer, K.2    Matsumoto, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.