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Volumn 157, Issue 1, 2007, Pages 210-212

Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations [16]

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ANAMNESIS; BRAIN MALFORMATION; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HEMANGIOKERATOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; MALE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN NODULE; SKIN TUMOR; SURGICAL TECHNIQUE; VEIN MALFORMATION;

EID: 34250678841     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.07978.x     Document Type: Letter
Times cited : (9)

References (10)
  • 1
    • 0032695959 scopus 로고    scopus 로고
    • Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
    • Sahoo T, Johnson EW, Thomas JW et al. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 1999 8 : 2325 33.
    • (1999) Hum Mol Genet , vol.8 , pp. 2325-33
    • Sahoo, T.1    Johnson, E.W.2    Thomas, J.W.3
  • 2
    • 7844247192 scopus 로고    scopus 로고
    • Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
    • Craig HD, Gunel M, Cepeda O et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998 7 : 1851 8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1851-8
    • Craig, H.D.1    Gunel, M.2    Cepeda, O.3
  • 3
    • 19944394831 scopus 로고    scopus 로고
    • Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
    • Bergametti F, Denier C, Labauge P et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 2005 76 : 42 51.
    • (2005) Am J Hum Genet , vol.76 , pp. 42-51
    • Bergametti, F.1    Denier, C.2    Labauge, P.3
  • 4
    • 33644860682 scopus 로고    scopus 로고
    • CCM2 expression parallels that of CCM1
    • Seker A, Pricola KL, Guclu B et al. CCM2 expression parallels that of CCM1. Stroke 2006 37 : 518 23.
    • (2006) Stroke , vol.37 , pp. 518-23
    • Seker, A.1    Pricola, K.L.2    Guclu, B.3
  • 5
    • 0032512325 scopus 로고    scopus 로고
    • Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families. Société Française de Neurochirurgie
    • Labauge P, Laberge S, Brunereau L et al. Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie. Lancet 1998 352 : 1892 7.
    • (1998) Lancet , vol.352 , pp. 1892-7
    • Labauge, P.1    Laberge, S.2    Brunereau, L.3
  • 6
    • 10744233064 scopus 로고    scopus 로고
    • Clinical features of cerebral cavernous malformations patients with KRIT1 mutations
    • Denier C, Labauge P, Brunereau L et al. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol 2004 55 : 213 20.
    • (2004) Ann Neurol , vol.55 , pp. 213-20
    • Denier, C.1    Labauge, P.2    Brunereau, L.3
  • 7
    • 15844411517 scopus 로고    scopus 로고
    • A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans
    • Gunel M, Awad IA, Finberg K et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 1996 334 : 946 51.
    • (1996) N Engl J Med , vol.334 , pp. 946-51
    • Gunel, M.1    Awad, I.A.2    Finberg, K.3
  • 8
    • 0030011354 scopus 로고    scopus 로고
    • Cutaneous and cerebral haemangiomas associated with eruptive angiokeratomas
    • Ostlere L, Hart Y, Misch KJ. Cutaneous and cerebral haemangiomas associated with eruptive angiokeratomas. Br J Dermatol 1996 135 : 98 101.
    • (1996) Br J Dermatol , vol.135 , pp. 98-101
    • Ostlere, L.1    Hart, Y.2    Misch, K.J.3
  • 9
    • 0034702087 scopus 로고    scopus 로고
    • KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation
    • Eerola I, Plate KH, Spiegel R et al. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 2000 9 : 1351 5.
    • (2000) Hum Mol Genet , vol.9 , pp. 1351-5
    • Eerola, I.1    Plate, K.H.2    Spiegel, R.3
  • 10
    • 0037090688 scopus 로고    scopus 로고
    • Cerebral cavernous malformation: Novel mutation in a Chinese family and evidence for heterogeneity
    • Chen DH, Lipe HP, Qin Z et al. Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci 2002 196 : 91 6.
    • (2002) J Neurol Sci , vol.196 , pp. 91-6
    • Chen, D.H.1    Lipe, H.P.2    Qin, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.