-
2
-
-
0023820545
-
Cerebral cavernous malformations: Incidence and familial occurrence
-
Rigamonti D, Hadley MN, Drayer BP et al. Cerebral cavernous malformations: Incidence and familial occurrence. N Engl J Med 1988: 319 (6): 343-347.
-
(1988)
N Engl J Med
, vol.319
, Issue.6
, pp. 343-347
-
-
Rigamonti, D.1
Hadley, M.N.2
Drayer, B.P.3
-
3
-
-
0032556363
-
Anticipation in familial cavernous angioma: A study of 52 families from International Familial Cavernous Angioma Study
-
Siegel AM, Andremann E et al. Anticipation in familial cavernous angioma: A study of 52 families from International Familial Cavernous Angioma Study. Lancet 1998: 352 (9141): 1676-1677.
-
(1998)
Lancet
, vol.352
, Issue.9141
, pp. 1676-1677
-
-
Siegel, A.M.1
Andremann, E.2
-
5
-
-
0032851217
-
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
-
Laberge-le Couteulx S, Jung HH, Labauge P et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999: 23 (2): 189-193.
-
(1999)
Nat Genet
, vol.23
, Issue.2
, pp. 189-193
-
-
Laberge-le Couteulx, S.1
Jung, H.H.2
Labauge, P.3
-
6
-
-
9144261692
-
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations
-
Liquori CL, Berg MJ, Siegel AM et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003: 73 (6): 1459-1464.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.6
, pp. 1459-1464
-
-
Liquori, C.L.1
Berg, M.J.2
Siegel, A.M.3
-
7
-
-
19944394831
-
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 (1): 42-51.
-
(2005)
Am J Hum Genet
, vol.76
, Issue.1
, pp. 42-51
-
-
Bergametti, F.1
Denier, C.2
Labauge, P.3
-
8
-
-
10744230011
-
Mutations within the MGC4607 gene cause cerebral cavernous malformations
-
Denier C, Goutagny S, Labauge P et al. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 2004: 74 (2): 326-337.
-
(2004)
Am J Hum Genet
, vol.74
, Issue.2
, pp. 326-337
-
-
Denier, C.1
Goutagny, S.2
Labauge, P.3
-
9
-
-
33749263696
-
Cerebral cavernous malformation: New molecular and clinical insights
-
Revencu N, Vikkula M. Cerebral cavernous malformation: New molecular and clinical insights. J Med Genet 2006: 43 (9): 716-721.
-
(2006)
J Med Genet
, vol.43
, Issue.9
, pp. 716-721
-
-
Revencu, N.1
Vikkula, M.2
-
10
-
-
42949156659
-
Novel CCM1, CCM2, CCM3 mutations in patients with cerebral cavernous malformations: In-frame deletion in CCM2 prevents formation of a CCM1/ CCM2/CCM3 protein complex
-
Stahl S, Gaetzner S, Voss K et al. Novel CCM1, CCM2, CCM3 mutations in patients with cerebral cavernous malformations: In-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. Hum Mut 2008: 29 (5): 709-717.
-
(2008)
Hum Mut
, vol.29
, Issue.5
, pp. 709-717
-
-
Stahl, S.1
Gaetzner, S.2
Voss, K.3
-
11
-
-
33845326796
-
Genotype-phenotype correlations in cerebral cavernous malformations patients
-
Denier C, Labauge P, Bergametti F et al. Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol 2006: 60 (5): 550-556.
-
(2006)
Ann Neurol
, vol.60
, Issue.5
, pp. 550-556
-
-
Denier, C.1
Labauge, P.2
Bergametti, F.3
-
12
-
-
0032512325
-
Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families
-
Labauge P, Laberge S, Brunereau L et al. Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families. Lancet 1998: 352 (9144): 1892-1897.
-
(1998)
Lancet
, vol.352
, Issue.9144
, pp. 1892-1897
-
-
Labauge, P.1
Laberge, S.2
Brunereau, L.3
-
13
-
-
0036097023
-
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation
-
Verlaan DJ, Siegel AM, Rouleau GA. Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet 2002: 70 (6): 1564-1567.
-
(2002)
Am J Hum Genet
, vol.70
, Issue.6
, pp. 1564-1567
-
-
Verlaan, D.J.1
Siegel, A.M.2
Rouleau, G.A.3
-
14
-
-
33845668391
-
Identification of two novel mutations and of a novel critical region in the KRIT1 gene
-
Guarnieri V, Muscarella LA, Amoroso R et al. Identification of two novel mutations and of a novel critical region in the KRIT1 gene. Neurogenetics 2007: 8 (1): 29-37.
-
(2007)
Neurogenetics
, vol.8
, Issue.1
, pp. 29-37
-
-
Guarnieri, V.1
Muscarella, L.A.2
Amoroso, R.3
-
15
-
-
26944453614
-
Splicing in action: Assessing disease causing sequence changes
-
Baralle D, Baralle M. Splicing in action: Assessing disease causing sequence changes. J Med Genet 2005: 42 (10): 737-748.
-
(2005)
J Med Genet
, vol.42
, Issue.10
, pp. 737-748
-
-
Baralle, D.1
Baralle, M.2
-
16
-
-
1942467065
-
Genomic variants in exons and introns: Identifying the splicing spoilers
-
Pagani F, Baralle FE. Genomic variants in exons and introns: Identifying the splicing spoilers. Nat Rev Genet 2004: 5 (5): 389-396.
-
(2004)
Nat Rev Genet
, vol.5
, Issue.5
, pp. 389-396
-
-
Pagani, F.1
Baralle, F.E.2
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