-
1
-
-
0021203187
-
Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging
-
Schwartz AC, Weaver RG Jr, Bloomfield R, Tyler ME (1984) Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging. Am J Ophthalmol 98:483-487
-
(1984)
Am. J. Ophthalmol.
, vol.98
, pp. 483-487
-
-
Schwartz, A.C.1
Weaver R.G., Jr.2
Bloomfield, R.3
Tyler, M.E.4
-
2
-
-
0029096355
-
Intracranial cavernous malformations: Lesion behavior and management strategies
-
Maraire JN, Awad IA (1995) Intracranial cavernous malformations: lesion behavior and management strategies. Neurosurgery 37:591-605
-
(1995)
Neurosurgery
, vol.37
, pp. 591-605
-
-
Maraire, J.N.1
Awad, I.A.2
-
3
-
-
0024384777
-
131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies
-
Otten P, Pizzolato GP, Rilliet B, Berney J (1989) 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie 35: 82-83
-
(1989)
Neurochirurgie
, vol.35
, pp. 82-83
-
-
Otten, P.1
Pizzolato, G.P.2
Rilliet, B.3
Berney, J.4
-
4
-
-
0023820545
-
Cerebral cavernous malformations. Incidence and familial occurrence
-
Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF (1988) Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 319:343-347
-
(1988)
N. Engl. J. Med.
, vol.319
, pp. 343-347
-
-
Rigamonti, D.1
Hadley, M.N.2
Drayer, B.P.3
Johnson, P.C.4
Hoenig-Rigamonti, K.5
Knight, J.T.6
Spetzler, R.F.7
-
5
-
-
0033051743
-
Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families
-
Laberge S, Labauge P, Marechal E, Maciazek J, Tournier-Lasserve E (1999) Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families. Eur J Hum Genet 7:499-504
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 499-504
-
-
Laberge, S.1
Labauge, P.2
Marechal, E.3
Maciazek, J.4
Tournier-Lasserve, E.5
-
6
-
-
0032851217
-
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
-
Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193
-
(1999)
Nat. Genet.
, vol.23
, pp. 189-193
-
-
Laberge-le Couteulx, S.1
Jung, H.H.2
Labauge, P.3
Houtteville, J.P.4
Lescoat, C.5
Cecillon, M.6
Marechal, E.7
Joutel, A.8
Bach, J.F.9
Tournier-Lasserve, E.10
-
7
-
-
0032695959
-
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
-
Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA (1999) Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 8:2325-2333
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2325-2333
-
-
Sahoo, T.1
Johnson, E.W.2
Thomas, J.W.3
Kuehl, P.M.4
Jones, T.L.5
Dokken, C.G.6
Touchman, J.W.7
Gallione, C.J.8
Lee-Lin, S.Q.9
Kosofsky, B.10
Kurth, J.H.11
Louis, D.N.12
Mettler, G.13
Morrison, L.14
Gil-Nagel, A.15
Rich, S.S.16
Zabramski, J.M.17
Boguski, M.S.18
Green, E.D.19
Marchuk, D.A.20
more..
-
8
-
-
0030761145
-
Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
-
Serebriiskii I, Eskojak J, Sonoda G, Testa JR, Golemis EA (1997) Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 19:1043-1049
-
(1997)
Oncogene
, vol.19
, pp. 1043-1049
-
-
Serebriiskii, I.1
Eskojak, J.2
Sonoda, G.3
Testa, J.R.4
Golemis, E.A.5
-
9
-
-
0034702087
-
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation
-
Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M (2000) KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 9:1351-1355
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1351-1355
-
-
Eerola, I.1
Plate, K.H.2
Spiegel, R.3
Boon, L.M.4
Mulliken, J.B.5
Vikkula, M.6
-
10
-
-
0035957111
-
CCM1 gene mutations in families segregating cerebral cavernous malformations
-
Davenport WJ, Siegel AM, Dichgans J, Drigo P, Mammi I, Pereda P, Wood NW, Rouleau GA (2001) CCM1 gene mutations in families segregating cerebral cavernous malformations. Neurology 56:540-543
-
(2001)
Neurology
, vol.56
, pp. 540-543
-
-
Davenport, W.J.1
Siegel, A.M.2
Dichgans, J.3
Drigo, P.4
Mammi, I.5
Pereda, P.6
Wood, N.W.7
Rouleau, G.A.8
-
11
-
-
0342748427
-
Spanish families with cerebral cavernous angioma do not bear 742C->T Hispanic American mutation of the KRIT1 gene
-
Lucas M, Solano F, Zayas MD, Garcia-Moreno JM, Gamero MA, Costa AF, Izquierdo G (2000) Spanish families with cerebral cavernous angioma do not bear 742C->T Hispanic American mutation of the KRIT1 gene. Ann Neurol 47:836
-
(2000)
Ann. Neurol.
, vol.47
, pp. 836
-
-
Lucas, M.1
Solano, F.2
Zayas, M.D.3
Garcia-Moreno, J.M.4
Gamero, M.A.5
Costa, A.F.6
Izquierdo, G.7
-
12
-
-
0035072776
-
Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations
-
Lucas M, Costa AF, Montori M, Solano F, Zayas MD, Izquierdo G (2001) Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. Ann Neurol 49:529-532
-
(2001)
Ann. Neurol.
, vol.49
, pp. 529-532
-
-
Lucas, M.1
Costa, A.F.2
Montori, M.3
Solano, F.4
Zayas, M.D.5
Izquierdo, G.6
-
13
-
-
0035145528
-
Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene
-
Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin 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
Goenaga-Diaz, E.2
Serebriiskii, I.G.3
Thomas, J.W.4
Kotova, E.5
Cuellar, J.G.6
Peloquin, J.M.7
Golemis, E.8
Beitinjaneh, F.9
Green, E.D.10
Johnson, E.W.11
Marchuk, D.A.12
-
15
-
-
0035895816
-
Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1
-
1517
-
Eerola I, McIntyre B, Vikkula M (2001) Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta 1517:464-467
-
(2001)
Biochim. Biophys. Acta
, pp. 464-467
-
-
Eerola, I.1
McIntyre, B.2
Vikkula, M.3
-
16
-
-
0034671077
-
Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons
-
Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2000) Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons. Genomics 70:392-395
-
(2000)
Genomics
, vol.70
, pp. 392-395
-
-
Zhang, J.1
Clatterbuck, R.E.2
Rigamonti, D.3
Dietz, H.C.4
-
17
-
-
0032792551
-
The ankyrin repeat: A diversity of interactions on a common structural framework
-
Sedgwick SG, Smerdon SJ (1999) The ankyrin repeat: a diversity of interactions on a common structural framework. Trends Biochem Sci 24:311-316
-
(1999)
Trends Biochem. Sci.
, vol.24
, pp. 311-316
-
-
Sedgwick, S.G.1
Smerdon, S.J.2
-
18
-
-
0031081475
-
ERM proteins: Head-to-tail regulation of actin-plasma membrane interaction
-
Tsukita S, Yonemura S, Tsukita S (1997) ERM proteins: head-to-tail regulation of actin-plasma membrane interaction. Trends Biochem Sci 22:53-58
-
(1997)
Trends Biochem. Sci.
, vol.22
, pp. 53-58
-
-
Tsukita, S.1
Yonemura, S.2
Tsukita, S.3
-
19
-
-
0029867988
-
Expression and localization of RAP1 proteins during myogenic differentiation
-
Pizon V, Cifuentes-Diaz C, Mege RM, Baldacci G, Rieger F (1996) Expression and localization of RAP1 proteins during myogenic differentiation. Eur J Cell Biol 69:224-235
-
(1996)
Eur. J. Cell Biol.
, vol.69
, pp. 224-235
-
-
Pizon, V.1
Cifuentes-Diaz, C.2
Mege, R.M.3
Baldacci, G.4
Rieger, F.5
-
20
-
-
0029886730
-
Differential up-regulation of Rap1a and Rap1b proteins during smooth muscle cell cycle
-
Quarck R, Berrou E, Magnier C, Bobe R, Bredoux R, Tobelem G, Enouf J, Bryckaert M (1996) Differential up-regulation of Rap1a and Rap1b proteins during smooth muscle cell cycle. Eur J Cell Biol 70:269-277
-
(1996)
Eur. J. Cell Biol.
, vol.70
, pp. 269-277
-
-
Quarck, R.1
Berrou, E.2
Magnier, C.3
Bobe, R.4
Bredoux, R.5
Tobelem, G.6
Enouf, J.7
Bryckaert, M.8
-
21
-
-
0028246501
-
Association of Rap1a and Rap1b proteins with late endocytic/phagocytic compartments and Rap2a with the Golgi complex
-
Pizon V, Desjardins M, Bucci C, Parton RG, Zerial M (1994) Association of Rap1a and Rap1b proteins with late endocytic/phagocytic compartments and Rap2a with the Golgi complex. J Cell Sci 107:1661-1670
-
(1994)
J. Cell Sci.
, vol.107
, pp. 1661-1670
-
-
Pizon, V.1
Desjardins, M.2
Bucci, C.3
Parton, R.G.4
Zerial, M.5
-
22
-
-
0031033220
-
Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues
-
Wienecke R, Maize JC, Reed JA, Gunzburg J de, Yeung RS, DeClue JE (1997) Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues. Am J Pathol 150: 43-50
-
(1997)
Am. J. Pathol.
, vol.150
, pp. 43-50
-
-
Wienecke, R.1
Maize, J.C.2
Reed, J.A.3
de Gunzburg, J.4
Yeung, R.S.5
DeClue, J.E.6
-
23
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
-
Baechner D, Manca A, Steinbach P, Wohrle D, Just W, Vogel W, Hameister H, Poustka A (1993) Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum Mol Genet 2:2043-2050
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2043-2050
-
-
Baechner, D.1
Manca, A.2
Steinbach, P.3
Wohrle, D.4
Just, W.5
Vogel, W.6
Hameister, H.7
Poustka, A.8
-
24
-
-
0039108539
-
Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
-
Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P (1999) Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 64:1617-1631
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1617-1631
-
-
Teraoka, S.N.1
Telatar, M.2
Becker-Catania, S.3
Liang, T.4
Onengut, S.5
Tolun, A.6
Chessa, L.7
Sanal, O.8
Bernatowska, E.9
Gatti, R.A.10
Concannon, P.11
-
25
-
-
0034112646
-
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
-
Wimmer K, Eckart M, Rehder H, Fonatsch C (2000) Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients. Hum Genet 106:311-313
-
(2000)
Hum. Genet.
, vol.106
, pp. 311-313
-
-
Wimmer, K.1
Eckart, M.2
Rehder, H.3
Fonatsch, C.4
-
26
-
-
0030828764
-
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
-
Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR (1997) The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 6:1991-1996
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1991-1996
-
-
Maheshwar, M.M.1
Cheadle, J.P.2
Jones, A.C.3
Myring, J.4
Fryer, A.E.5
Harris, P.C.6
Sampson, J.R.7
-
27
-
-
0032401757
-
All in the family? New insights and questions regarding interconnectivity of Ras, Rap1 and Ral
-
Bos JL (1998) All in the family? New insights and questions regarding interconnectivity of Ras, Rap1 and Ral. EMBO J 17:6776-6782
-
(1998)
EMBO J.
, vol.17
, pp. 6776-6782
-
-
Bos, J.L.1
-
28
-
-
0029026103
-
The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall
-
Takahashi T, Nowakowski RS, Caviness VS Jr (1995) The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall. J Neurosci 15:6046-6057
-
(1995)
J. Neurosci.
, vol.15
, pp. 6046-6057
-
-
Takahashi, T.1
Nowakowski, R.S.2
Caviness V.S., Jr.3
|