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Volumn 138, Issue 7-8, 2010, Pages 408-413

Ocular anomalies in incontinentia pigmenti: Literature review and meta-analysis

Author keywords

Incontinentia pigmenti; Meta analysis; Ocular anomalies; Retinal anomalies

Indexed keywords

EYE DISEASE; EYE MALFORMATION; HUMAN; INCONTINENTIA PIGMENTI; META ANALYSIS; REVIEW;

EID: 77958114477     PISSN: 03708179     EISSN: None     Source Type: Journal    
DOI: 10.2298/SARH1008408M     Document Type: Article
Times cited : (40)

References (21)
  • 1
    • 0036696739 scopus 로고    scopus 로고
    • Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
    • Berlin A, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002; 47:169-87.
    • (2002) J Am Acad Dermatol , vol.47 , pp. 169-187
    • Berlin, A.1    Paller, A.S.2    Chan, L.S.3
  • 2
    • 0032771724 scopus 로고    scopus 로고
    • Extracutaneous analogies of Blaschko lines
    • Rott HD. Extracutaneous analogies of Blaschko lines. Am J Med Genet. 1999; 85:338-41.
    • (1999) Am J Med Genet , vol.85 , pp. 338-341
    • Rott, H.D.1
  • 3
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    • Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000; 405:466-72.
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3    Yamaoka, S.4    Heuertz, S.5    Munnich, A.6
  • 4
    • 33750454819 scopus 로고    scopus 로고
    • Mutations in the NF-KB signalling pathway: Implication for human disease
    • Courtois G, Gilmore TD. Mutations in the NF-KB signalling pathway: implication for human disease. Oncogene. 2006; 25:6831-43.
    • (2006) Oncogene , vol.25 , pp. 6831-6843
    • Courtois, G.1    Gilmore, T.D.2
  • 5
    • 13144261692 scopus 로고    scopus 로고
    • Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation
    • Orange JS, Levy O, Geha RS. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev. 2005; 203:21-37.
    • (2005) Immunol Rev , vol.203 , pp. 21-37
    • Orange, J.S.1    Levy, O.2    Geha, R.S.3
  • 6
    • 79961224518 scopus 로고    scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome). [Internet]
    • University of Washington; Seattle (WA):, Feb [cited 2008 Jan 28], Available from
    • Scheuerle A, Nelson D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). [Internet]. University of Washington; Seattle (WA): Gene Reviews 2008 Feb [cited 2008 Jan 28]. 24 p. Available from: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.i-p.
    • (2008) Gene Reviews , pp. 24
    • Scheuerle, A.1    Nelson, D.2
  • 7
    • 30744473463 scopus 로고    scopus 로고
    • A new mutation in exon 7 of NEMO gene: Late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
    • Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet. 2005; 118:458-65.
    • (2005) Hum Genet , vol.118 , pp. 458-465
    • Martinez-Pomar, N.1    Munoz-Saa, I.2    Heine-Suner, D.3    Martin, A.4    Smahi, A.5    Matamoros, N.6
  • 8
    • 0027403249 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993; 30:53-9.
    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 10
    • 0000513392 scopus 로고
    • Peculiar pigmentation of the skin of an infant
    • Garrod AE. Peculiar pigmentation of the skin of an infant. Trans Clin Soc London. 1906; 39:216.
    • (1906) Trans Clin Soc London , vol.39 , pp. 216
    • Garrod, A.E.1
  • 11
    • 0017260992 scopus 로고
    • Incontinentia pigmenti: A world statistical analysis
    • Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol. 1976; 112:535-42.
    • (1976) Arch Dermatol , vol.112 , pp. 535-542
    • Carney, R.G.1
  • 13
    • 0029846444 scopus 로고    scopus 로고
    • Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2
    • Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet. 1996; 5:1777-83.
    • (1996) Hum Mol Genet , vol.5 , pp. 1777-1783
    • Parrish, J.E.1    Scheuerle, A.E.2    Lewis, R.A.3    Levy, M.L.4    Nelson, D.L.5
  • 14
    • 0034112417 scopus 로고    scopus 로고
    • Ocular manifestations of incontinentia pigmenti
    • Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. 2000; 78:348-53.
    • (2000) Acta Ophthalmol Scand , vol.78 , pp. 348-353
    • Holmström, G.1    Thorén, K.2
  • 15
    • 23044439779 scopus 로고    scopus 로고
    • Incontinentia pigmenti case series: Clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives
    • Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol. 2005; 30:474-80.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 474-480
    • Phan, T.A.1    Wargon, O.2    Turner, A.M.3
  • 16
    • 0003729690 scopus 로고
    • 2nd ed. New York: Springer-Verlag
    • Sachs L. Applied Statistics. 2nd ed. New York: Springer-Verlag; 1984. p.320-477.
    • (1984) Applied Statistics , pp. 320-477
    • Sachs, L.1
  • 17
    • 4444311888 scopus 로고    scopus 로고
    • Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-Kappab activation
    • Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-Kappab activation. Hum Mol Genet. 2004; 13:1763-73.
    • (2004) Hum Mol Genet , vol.13 , pp. 1763-1773
    • Fusco, F.1    Bardaro, T.2    Fimiani, G.3    Mercadante, V.4    Miano, M.G.5    Falco, G.6
  • 18
    • 42949154156 scopus 로고    scopus 로고
    • Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutations
    • Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, et al. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat. 2008; 29:595-604.
    • (2008) Hum Mutat , vol.29 , pp. 595-604
    • Fusco, F.1    Pescatore, A.2    Bal, E.3    Ghoul, A.4    Paciolla, M.5    Lioi, M.B.6
  • 19
  • 21
    • 33947398057 scopus 로고    scopus 로고
    • Confocal microscopy reveals a possible X-linked inactivation mosaic in the corneal epithelium
    • Clarke MS. Confocal microscopy reveals a possible X-linked inactivation mosaic in the corneal epithelium. Am J Ophthalmol. 2007; 143:727-8.
    • (2007) Am J Ophthalmol , vol.143 , pp. 727-728
    • Clarke, M.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.