-
1
-
-
18744374458
-
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations
-
Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-le Couteulx S, Tounier-Lasserve E. 2002. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet 10:733-740.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 733-740
-
-
Cavé-Riant, F.1
Denier, C.2
Labauge, P.3
Cécillon, M.4
Maciazek, J.5
Joutel, A.6
Laberge-Le Couteulx, S.7
Tounier-Lasserve, E.8
-
2
-
-
0034925464
-
Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to pathophysiology of cavernous malformations
-
Clatterbuck RE, Eberhart CG, Crain BJ, Rigamonti D. 2001. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71:188-198.
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.71
, pp. 188-198
-
-
Clatterbuck, R.E.1
Eberhart, C.G.2
Crain, B.J.3
Rigamonti, D.4
-
3
-
-
0036768349
-
KRIT1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult
-
Denier C, Gasc J-M, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E. 2002. KRIT1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. Mech Develop 117:363-367.
-
(2002)
Mech Develop
, vol.117
, pp. 363-367
-
-
Denier, C.1
Gasc, J.-M.2
Chapon, F.3
Domenga, V.4
Lescoat, C.5
Joutel, A.6
Tournier-Lasserve, E.7
-
4
-
-
0036679193
-
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
-
Gunel M, Laurans MSH, Shin D, DiLuna M, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. 2002. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci USA 99:10677-10682
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10677-10682
-
-
Gunel, M.1
Laurans, M.S.H.2
Shin, D.3
DiLuna, M.4
Voorhees, J.5
Choate, K.6
Nelson-Williams, C.7
Lifton, R.P.8
-
5
-
-
0036945852
-
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)
-
Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H. 2002. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol 104:231-240.
-
(2002)
Acta Neuropathol
, vol.104
, pp. 231-240
-
-
Kehrer-Sawatzki, H.1
Wilda, M.2
Braun, V.M.3
Richter, H.P.4
Hameister, H.5
-
6
-
-
9144261692
-
Mutations in a gene encoding a novel protein containig a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations
-
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. 2003. Mutations in a gene encoding a novel protein containig a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 73:1459-1464.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1459-1464
-
-
Liquori, C.L.1
Berg, M.J.2
Siegel, A.M.3
Huang, E.4
Zawistowski, J.S.5
Stoffer, T.6
Verlaan, D.7
Balogun, F.8
Hughes, L.9
Leedom, T.P.10
Plummer, N.W.11
Cannella, M.12
Maglione, V.13
Squitieri, F.14
Johnson, E.W.15
Rouleau, G.A.16
Ptacek, L.17
Marchuk, D.A.18
-
8
-
-
0037602235
-
Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test
-
Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, Garrè C. 2003. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. J Neurol Sci 212:75-78.
-
(2003)
J Neurol Sci
, vol.212
, pp. 75-78
-
-
Marini, V.1
Ferrera, L.2
Dorcaratto, A.3
Viale, G.4
Origone, P.5
Mareni, C.6
Garrè, C.7
-
9
-
-
0037426448
-
Molecular genetic investigation in the CCM1 gene in sporadic cerebral cavernomas
-
Reich P, Wilkler J, Straube A, Steiger HJ, Peraud A. 2003. Molecular genetic investigation in the CCM1 gene in sporadic cerebral cavernomas. Neurol 60:1135-1138.
-
(2003)
Neurol
, vol.60
, pp. 1135-1138
-
-
Reich, P.1
Wilkler, J.2
Straube, A.3
Steiger, H.J.4
Peraud, A.5
-
10
-
-
0035145528
-
Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene
-
Sahoo T, Goenega-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Pelloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA. 2001. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics 71:123-126.
-
(2001)
Genomics
, vol.71
, pp. 123-126
-
-
Sahoo, T.1
Goenega-Diaz, E.2
Serebriiskii, I.G.3
Thomas, J.W.4
Kotova, E.5
Cuellar, J.G.6
Pelloquin, J.M.7
Golemis, E.8
Beitinjaneh, F.9
Green, E.D.10
Johnson, E.W.11
Marchuk, D.A.12
-
11
-
-
0034866624
-
Endothelial proliferation, neoangiogenesis, and potential de novo generation of cerebrovascular malformations
-
Sure U, Butz N, Schlegel J, Siegel AM, Wakat JP, Mennel HD, Bien S, Bertalanffy H. 2001. Endothelial proliferation, neoangiogenesis, and potential de novo generation of cerebrovascular malformations. J Neurosurg 94:972-977.
-
(2001)
J Neurosurg
, vol.94
, pp. 972-977
-
-
Sure, U.1
Butz, N.2
Schlegel, J.3
Siegel, A.M.4
Wakat, J.P.5
Mennel, H.D.6
Bien, S.7
Bertalanffy, H.8
-
12
-
-
0035542933
-
Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the phathogenesis of cerebral cavernous malformation
-
Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietez HC. 2001. Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the phathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2953-2960
-
-
Zhang, J.1
Clatterbuck, R.E.2
Rigamonti, D.3
Chang, D.D.4
Dietez, H.C.5
|