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Volumn 9, Issue 1, 2014, Pages

Incontinentia Pigmenti: Learning disabilities are a fundamental hallmark of the disease

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

EID: 84900423626     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087771     Document Type: Article
Times cited : (26)

References (36)
  • 1
    • 0027403249 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch-Sulzberger Syndrome). J Med Genet 30: 53-59. (Pubitemid 23067559)
    • (1993) Journal of Medical Genetics , vol.30 , Issue.1 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 4
    • 0032568792 scopus 로고    scopus 로고
    • Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation
    • DOI 10.1016/S0092-8674(00)81466-X
    • Yamaoka S, Courtois G, Bessia C, Whiteside ST, Weil R, et al. (1998) Complementation cloning of NEMO, a component of the IkappaB kinase complex essential forNF-kappaB activation. Cell 93: 1231-1240. (Pubitemid 28307427)
    • (1998) Cell , vol.93 , Issue.7 , pp. 1231-1240
    • Yamaoka, S.1    Courtois, G.2    Bessia, C.3    Whiteside, S.T.4    Weil, R.5    Agou, F.6    Kirk, H.E.7    Kay, R.J.8    Israel, A.9
  • 5
    • 4444376712 scopus 로고    scopus 로고
    • Signaling to NF-kappaB
    • Hayden MS, Ghosh S (2004) Signaling to NF-kappaB. Genes Dev18: 2195-2224.
    • (2004) Genes Dev , vol.18 , pp. 2195-2224
    • Hayden, M.S.1    Ghosh, S.2
  • 6
    • 33646528676 scopus 로고    scopus 로고
    • NEMO, NFkappaB signaling and incontinentia pigmenti
    • Nelson DL (2006) NEMO, NFkappaB signaling and incontinentia pigmenti. Curr Opin Genet Dev 16: 282-288.
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 282-288
    • Nelson, D.L.1
  • 9
    • 79961224518 scopus 로고    scopus 로고
    • Incontinentia Pigmenti
    • Pagon RA, Bird TD, Dolan CR, Stephens K, (Eds.). Seattle (WA): University of Washington
    • Scheuerle A, Ursini MV (2010) Incontinentia Pigmenti. In Pagon RA, Bird TD, Dolan CR, Stephens K, (Eds.). Gene Reviews. Seattle (WA): University of Washington. p. 1993-1999.
    • (2010) Gene Reviews , pp. 1993-1999
    • Scheuerle, A.1    Ursini, M.V.2
  • 11
    • 84874062548 scopus 로고    scopus 로고
    • Systematic review of central nervous system anomalies in incontinentia pigmenti
    • Minić S, Trpinac D, Obradović M (2013) Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis 8: 25.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 25
    • Minić, S.1    Trpinac, D.2    Obradović, M.3
  • 12
    • 0029062691 scopus 로고
    • Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging
    • Lee AG, Goldberg MF, Gillard JH, Barker PB, Bryan RN (1995) Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med 149: 573-580.
    • (1995) Arch Pediatr Adolesc Med , vol.149 , pp. 573-580
    • Lee, A.G.1    Goldberg, M.F.2    Gillard, J.H.3    Barker, P.B.4    Bryan, R.N.5
  • 13
    • 0142248341 scopus 로고    scopus 로고
    • Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti
    • DOI 10.1016/S0887-8994(03)00150-4
    • Hennel SJ, Ekert PG, Volpe JJ, Inder TE (2003) Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 29: 148-150. (Pubitemid 37324388)
    • (2003) Pediatric Neurology , vol.29 , Issue.2 , pp. 148-150
    • Hennel, S.J.1    Ekert, P.G.2    Volpe, J.J.3    Inder, T.E.4
  • 14
    • 33847682356 scopus 로고    scopus 로고
    • Abnormal White Matter in a Neurologically Intact Child With Incontinentia Pigmenti
    • DOI 10.1016/j.pediatrneurol.2006.11.009, PII S0887899406006801
    • Bryant SA, Rutledge SI (2007) Abnormal white matter in a neurologically intact child with incontinentia pigmenti. Pediatr Neurol 36: 199-201. (Pubitemid 46367522)
    • (2007) Pediatric Neurology , vol.36 , Issue.3 , pp. 199-201
    • Bryant, S.A.1    Rutledge, S.L.2
  • 15
    • 78650308386 scopus 로고    scopus 로고
    • Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy
    • Abe S, Okumura A, Hamano S, Tanaka M, Shijhara T, et al. (2011) Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy. Brain & Development 33: 28-34.
    • (2011) Brain & Development , vol.33 , pp. 28-34
    • Abe, S.1    Okumura, A.2    Hamano, S.3    Tanaka, M.4    Shijhara, T.5
  • 17
    • 33747199972 scopus 로고    scopus 로고
    • Scope for more genetic testing in learning disability: Case report of an inherited duplication on the X-chromosome
    • DOI 10.1192/bjp.189.2.99
    • Robertshaw BA, MacPherson J (2006) Scope for more genetic testing in learning disability. Case report of an inherited duplication on the X-chromosome. Br J Psychiatry 189: 99-101. (Pubitemid 44231266)
    • (2006) British Journal of Psychiatry , vol.189 , Issue.AUG. , pp. 99-101
    • Robertshaw, B.A.1    MacPherson, J.2
  • 18
    • 0344099480 scopus 로고    scopus 로고
    • Clinical and molecular contributions to the understanding of X-linked mental retardation
    • DOI 10.1159/000071603
    • Stevenson RE, Swartz CE (2002) Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenic and Genome Research 99: 265-275. (Pubitemid 37467853)
    • (2002) Cytogenetic and Genome Research , vol.99 , Issue.1-4 , pp. 265-275
    • Stevenson, R.E.1    Schwartz, C.E.2
  • 28
    • 0037226450 scopus 로고    scopus 로고
    • Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKg gene deletion
    • DOI 10.1002/humu.10150
    • Bardaro T, Falco G, Sparago A, Mercadante V, Gean Molins E, et al. (2003) Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion. Hum. Mutat 21: 8-11. (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
  • 29
    • 0033006169 scopus 로고    scopus 로고
    • A neuropsychological-genetic profile of atypical cri du chat syndrome: Implications for prognosis
    • Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM (1999) A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet 36:567-570. (Pubitemid 29301602)
    • (1999) Journal of Medical Genetics , vol.36 , Issue.7 , pp. 567-570
    • Cornish, K.M.1    Cross, G.2    Green, A.3    Willatt, L.4    Bradshaw, J.M.5
  • 30
    • 44049103092 scopus 로고    scopus 로고
    • Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype
    • DOI 10.1111/j.1469-7610.2008.01887.x
    • Martens MA, Wilson SJ, Reutens DC (2008) Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry 46: 576-608. (Pubitemid 351713313)
    • (2008) Journal of Child Psychology and Psychiatry and Allied Disciplines , vol.49 , Issue.6 , pp. 576-608
    • Martens, M.A.1    Wilson, S.J.2    Reutens, D.C.3
  • 31
    • 84862163171 scopus 로고    scopus 로고
    • Neurological findings in incontinentia pigmenti; a review
    • Meuwissen MEC, Mancini GMS (2012) Neurological findings in incontinentia pigmenti; a review. Eur J of Med Genet 55: 323-331.
    • (2012) Eur J of Med Genet , vol.55 , pp. 323-331
    • Meuwissen, M.E.C.1    Mancini, G.M.S.2
  • 32
    • 67349099871 scopus 로고    scopus 로고
    • Dyslexia and dyscalculia: Two learning disorders with cognitive profiles
    • Landerl K, Fussenegger B, Moll K, Willburger E (2009) Dyslexia and dyscalculia: two learning disorders with cognitive profiles. J Exp Child Psychol 103: 309-324.
    • (2009) J Exp Child Psychol , vol.103 , pp. 309-324
    • Landerl, K.1    Fussenegger, B.2    Moll, K.3    Willburger, E.4
  • 33
    • 35548959742 scopus 로고    scopus 로고
    • Do words count? Connections between mathematics and reading difficulties
    • Berch DB, Mazzocco MMM (Eds.). Baltimore, MD: Brooks
    • Jordan NC (2007) Do words count? Connections between mathematics and reading difficulties. In Berch DB, Mazzocco MMM (Eds.). Why is math so hard for some children? Baltimore, MD: Brooks p. 107-120.
    • (2007) Why Is Math so Hard for Some Children? , pp. 107-120
    • Jordan, N.C.1
  • 34
    • 84879145353 scopus 로고    scopus 로고
    • Quality of Life in newly diagnosed children with specific learning disabilities (SpLD) and differences from typically developing children: A study of child and parent reports
    • Ginieri-Coccossis M, Rotsika V, Skevington S, Papaevangelou S, Malliori M, et al. (2013) Quality of Life in newly diagnosed children with specific learning disabilities (SpLD) and differences from typically developing children: a study of child and parent reports. Child Care Health Dev 39: 581-591.
    • (2013) Child Care Health Dev , vol.39 , pp. 581-591
    • Ginieri-Coccossis, M.1    Rotsika, V.2    Skevington, S.3    Papaevangelou, S.4    Malliori, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.