메뉴 건너뛰기




Volumn 9, Issue 1, 2014, Pages

Incontinentia pigmenti: Report on data from 2000 to 2013

Author keywords

Database; Genomic disorder; Incontinentia pigmenti; Molecular diagnosis; Neuroectodermal disorder; Registry

Indexed keywords

ARTICLE; CLINICAL STUDY; COHORT ANALYSIS; DATA BASE; DISEASE REGISTRY; FEMALE; HUMAN; INCONTINENTIA PIGMENTI; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; ONSET AGE; PEDIGREE; SKIN DEFECT; ADULT; NAIL DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSONAL EXPERIENCE; PHENOTYPE; POINT MUTATION;

EID: 84904018310     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-93     Document Type: Article
Times cited : (77)

References (25)
  • 2
    • 0027403249 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome). Landy SJ, Donnai D, J Med Genet 1993 30 53 59 10.1136/jmg.30.1.53 8423608 (Pubitemid 23067559)
    • (1993) Journal of Medical Genetics , vol.30 , Issue.1 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 3
    • 79961224518 scopus 로고    scopus 로고
    • Incontinentia pigmenti
    • Seattle: University of Washington Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, Seattle WA
    • Incontinentia pigmenti. Scheuerle A, Ursini MV, GeneReviews® [Internet] Seattle: University of Washington, Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, Seattle WA, 2010 1993 2014 http://www.ncbi.nlm.nih.gov/books/NBK1472
    • (2010) GeneReviews® [Internet] , pp. 1993-2014
    • Scheuerle, A.1    Ursini, M.V.2
  • 4
    • 2942627948 scopus 로고    scopus 로고
    • The skin is not the predominant problem in incontinentia pigmenti
    • DOI 10.1001/archderm.140.6.748
    • The skin is not the predominant problem in incontinentia pigmenti. Goldberg MF, Arch Dermatol 2004 140 748 750 15210470 (Pubitemid 38747295)
    • (2004) Archives of Dermatology , vol.140 , Issue.6 , pp. 748-750
    • Goldberg, M.F.1
  • 5
    • 84862163171 scopus 로고    scopus 로고
    • Neurological findings in incontinentia pigmenti: A review
    • 10.1016/j.ejmg.2012.04.007 22564885
    • Neurological findings in incontinentia pigmenti: a review. Meuwissen MEC, Mancini GMS, Eur J Med Genet 2012 55 323 331 10.1016/j.ejmg.2012.04.007 22564885
    • (2012) Eur J Med Genet , vol.55 , pp. 323-331
    • Meuwissen, M.E.C.1    Mancini, G.M.S.2
  • 6
    • 84874062548 scopus 로고    scopus 로고
    • Systematic review of central nervous system anomalies in incontinentia pigmenti
    • doi:doi:10.1186/1750-1172-8-25 10.1186/1750-1172-8-25 23406512
    • Systematic review of central nervous system anomalies in incontinentia pigmenti. Minić S, Trpinac D, Obradović M, Orphanet J Rare Dis 2013 8 25 35 doi:doi:10.1186/1750-1172-8-25 10.1186/1750-1172-8-25 23406512
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 25-35
    • Minić, S.1    Trpinac, D.2    Obradović, M.3
  • 7
    • 84900423626 scopus 로고    scopus 로고
    • Incontinentia pigmenti: Learning disabilities are a fundamental hallmark of the disease
    • doi:10.1371/journal.pone.0087771. eCollection 2014 10.1371/journal.pone. 0087771 24489960
    • Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV, PLoS One 2014 9 87771 doi:10.1371/journal.pone.0087771. eCollection 2014 10.1371/journal.pone.0087771 24489960
    • (2014) PLoS One , vol.9 , pp. 587771
    • Pizzamiglio, M.R.1    Piccardi, L.2    Bianchini, F.3    Canzano, L.4    Palermo, L.5    Fusco, F.6    D'Antuono, G.7    Gelmini, C.8    Garavelli, L.9    Ursini, M.V.10
  • 10
    • 84857665369 scopus 로고    scopus 로고
    • Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
    • 10.1093/hmg/ddr556 22121116
    • Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV, Hum Mol Genet 2012 21 1260 1271 10.1093/hmg/ddr556 22121116
    • (2012) Hum Mol Genet , vol.21 , pp. 1260-1271
    • Fusco, F.1    Paciolla, M.2    Napolitano, F.3    Pescatore, A.4    D'Addario, I.5    Bal, E.6    Lioi, M.B.7    Smahi, A.8    Miano, M.G.9    Ursini, M.V.10
  • 12
    • 4444376712 scopus 로고    scopus 로고
    • Signaling to NF-κB
    • DOI 10.1101/gad.1228704
    • Signaling to NF-κB. Hayden MS, Ghosh S, Genes Dev 2004 18 2195 2224 10.1101/gad.1228704 15371334 (Pubitemid 39209568)
    • (2004) Genes and Development , vol.18 , Issue.18 , pp. 2195-2224
    • Hayden, M.S.1    Ghosh, S.2
  • 13
    • 33646528676 scopus 로고    scopus 로고
    • NEMO, NFκB signaling and incontinentia pigmenti
    • 10.1016/j.gde.2006.04.013 16647846
    • NEMO, NFκB signaling and incontinentia pigmenti. Nelson DL, Curr Opin Genet Dev 2006 16 282 288 10.1016/j.gde.2006.04.013 16647846
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 282-288
    • Nelson, D.L.1
  • 14
    • 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-κB activation
    • DOI 10.1093/hmg/ddh192
    • Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV, Hum Mol Genet 2004 13 1763 1773 10.1093/hmg/ddh192 15229184 (Pubitemid 39173445)
    • (2004) Human Molecular Genetics , vol.13 , Issue.16 , pp. 1763-1773
    • Fusco, F.1    Bardaro, T.2    Fimiani, G.3    Mercadante, V.4    Miano, M.G.5    Falco, G.6    Israel, A.7    Courtois, G.8    D'urso, M.9    Ursini, M.V.10
  • 15
    • 0031821968 scopus 로고    scopus 로고
    • Non-random X chromosome inactivation in mammalian cells
    • Non-random X chromosome inactivation in mammalian cells. Migeon BR, Cytogenet Cell Genet 1998 80 142 148 10.1159/000014971 9678349 (Pubitemid 28330375)
    • (1998) Cytogenetics and Cell Genetics , vol.80 , Issue.1-4 , pp. 142-148
    • Migeon, B.R.1
  • 16
    • 78650863269 scopus 로고    scopus 로고
    • Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease
    • 10.1111/j.1399-0004.2010.01451.x 20497190
    • Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG, Clin Genet 2011 79 176 182 10.1111/j.1399-0004.2010. 01451.x 20497190
    • (2011) Clin Genet , vol.79 , pp. 176-182
    • Desai, V.1    Donsante, A.2    Swoboda, K.J.3    Martensen, M.4    Thompson, J.5    Kaler, S.G.6
  • 17
    • 0034798380 scopus 로고    scopus 로고
    • NEMO/IKKγ: Linking NF-κB to human disease
    • DOI 10.1016/S1471-4914(01)02154-2
    • NEMO/IKKγ: linking NF-κB to human disease. Courtois G, Smahi A, Israël A, Trends Mol Med 2001 7 427 430 10.1016/S1471-4914(01)02154-2 11597506 (Pubitemid 32964151)
    • (2001) Trends in Molecular Medicine , vol.7 , Issue.10 , pp. 427-430
    • Courtois, G.1    Smahi, A.2    Israel, A.3
  • 18
    • 33846071480 scopus 로고    scopus 로고
    • Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
    • DOI 10.1016/j.jaad.2006.09.019, PII S019096220602545X
    • Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV, J Am Acad Dermatol 2007 56 264 267 10.1016/j.jaad.2006.09.019 17224368 (Pubitemid 46074254)
    • (2007) Journal of the American Academy of Dermatology , vol.56 , Issue.2 , pp. 264-267
    • Fusco, F.1    Fimiani, G.2    Tadini, G.3    Michele, D.4    Ursini, M.V.5
  • 22
    • 84899481614 scopus 로고    scopus 로고
    • Incontinentia pigmenti diagnostic criteria update
    • 10.1111/cge.12223 23802866
    • Incontinentia pigmenti diagnostic criteria update. Minić S, Trpinac D, Obradović M, Clin Genet 2014 85 536 542 10.1111/cge.12223 23802866
    • (2014) Clin Genet , vol.85 , pp. 536-542
    • Minić, S.1    Trpinac, D.2    Obradović, M.3
  • 23
    • 0037226450 scopus 로고    scopus 로고
    • Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion
    • DOI 10.1002/humu.10150
    • Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion. Bardaro T, Falco G, Sparago A, Mercadante V, Gean Molins E, Tarantino E, Ursini MV, D'Urso M, Hum Mutat 2003 21 8 11 10.1002/humu.10150 12497627 (Pubitemid 36070452)
    • (2003) Human Mutation , vol.21 , Issue.1 , pp. 8-11
    • Bardaro, T.1    Falco, G.2    Sparago, A.3    Mercadante, V.4    Molins, E.G.5    Tarantino, E.6    Ursini, M.V.7    D'Urso, M.8
  • 24
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • Erratum in: Hum Mutat 2002, 20:403 10.1002/(SICI)1098-1004(200001)15: 1<7: AID-HUMU4>3.0.CO;2-N 10612815
    • Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. den Dunnen JT, Antonarakis SE, Hum Mutat 2000 15 7 15 Erratum in: Hum Mutat 2002, 20:403 10.1002/(SICI)1098-1004(200001)15:1<7:: AID-HUMU4>3.0.CO;2-N 10612815
    • (2000) Hum Mutat , vol.15 , pp. 7-15
    • Den Dunnen, J.T.1    Antonarakis, S.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.