-
1
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 2002, 30:97-101.
-
(2002)
Nat. Genet.
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
2
-
-
19944394831
-
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
-
Société Française de Neurochirurgie
-
Bergametti F., Denier C., Labauge P., Arnoult M., Boetto S., Clanet M., Coubes P., Echenne B., Ibrahim R., Irthum B., Jacquet G., Lonjon M., Moreau J.J., Neau J.P., Parker F., Tremoulet M., Tournier-Lasserve E. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am. J. Hum. Genet. 2005, 76:42-51. Société Française de Neurochirurgie.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 42-51
-
-
Bergametti, F.1
Denier, C.2
Labauge, P.3
Arnoult, M.4
Boetto, S.5
Clanet, M.6
Coubes, P.7
Echenne, B.8
Ibrahim, R.9
Irthum, B.10
Jacquet, G.11
Lonjon, M.12
Moreau, J.J.13
Neau, J.P.14
Parker, F.15
Tremoulet, M.16
Tournier-Lasserve, E.17
-
3
-
-
19444387096
-
RASA1: variable phenotype with capillary and arteriovenous malformation
-
Boon L.M., Mulliken J.B., Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformation. Curr. Opin. Genet. Dev. 2005, 15:265-269.
-
(2005)
Curr. Opin. Genet. Dev.
, vol.15
, pp. 265-269
-
-
Boon, L.M.1
Mulliken, J.B.2
Vikkula, M.3
-
4
-
-
0022638979
-
Arteriovenous malformations of the brain: natural history in unoperated patients
-
Crawford P.M., West C.R., Chadwick D.W., Shaw M.D.M. Arteriovenous malformations of the brain: natural history in unoperated patients. J. Neurol. Neurosurg. Psychiatr. 1986, 49:1-10.
-
(1986)
J. Neurol. Neurosurg. Psychiatr.
, vol.49
, pp. 1-10
-
-
Crawford, P.M.1
West, C.R.2
Chadwick, D.W.3
Shaw, M.D.M.4
-
5
-
-
10744230011
-
Mutations within the MGC4607 gene cause cerebral cavernous malformations
-
Société Française de Neurochirurgie
-
Denier C., Goutagny S., Labauge P., Krivosic V., Arnoult M., Cousin A., Benabid A.L., Comoy J., Frerebeau P., Gilbert B., Houtteville J.P., Jan M., Lapierre F., Loiseau H., Menei P., Mercier P., Moreau J.J., Nivelon-Chevallier A., Parker F., Redondo A.M., Scarabin J.M., Tremoulet M., Zerah M., Maciazek J., Tournier-Lasserve E. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am. J. Hum. Genet. 2004, 74:326-337. Société Française de Neurochirurgie.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 326-337
-
-
Denier, C.1
Goutagny, S.2
Labauge, P.3
Krivosic, V.4
Arnoult, M.5
Cousin, A.6
Benabid, A.L.7
Comoy, J.8
Frerebeau, P.9
Gilbert, B.10
Houtteville, J.P.11
Jan, M.12
Lapierre, F.13
Loiseau, H.14
Menei, P.15
Mercier, P.16
Moreau, J.J.17
Nivelon-Chevallier, A.18
Parker, F.19
Redondo, A.M.20
Scarabin, J.M.21
Tremoulet, M.22
Zerah, M.23
Maciazek, J.24
Tournier-Lasserve, E.25
more..
-
6
-
-
0347362524
-
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
-
Eerola I., Boon L.M., Mulliken J.B., Burrows P.E., Dompmartin A., Watanabe S., Vanwijck R., Vikkula M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 2003, 73:1240-1249.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1240-1249
-
-
Eerola, I.1
Boon, L.M.2
Mulliken, J.B.3
Burrows, P.E.4
Dompmartin, A.5
Watanabe, S.6
Vanwijck, R.7
Vikkula, M.8
-
7
-
-
0037045842
-
Arteriovenous malformations
-
Fleetwood I.G., Steinberg G.K. Arteriovenous malformations. Lancet 2002, 359:863-873.
-
(2002)
Lancet
, vol.359
, pp. 863-873
-
-
Fleetwood, I.G.1
Steinberg, G.K.2
-
8
-
-
10744232469
-
Gene microarray analysis of human brain arteriovenous malformations
-
discussion 423-425
-
Hashimoto T., Lawton M.T., Wen G., Yang G.Y., Chaly T., Stewart C.L., Dressman H.K., Barbaro N.M., Marchuk D.A., Young W.L. Gene microarray analysis of human brain arteriovenous malformations. Neurosurgery 2004, 54:410-423. discussion 423-425.
-
(2004)
Neurosurgery
, vol.54
, pp. 410-423
-
-
Hashimoto, T.1
Lawton, M.T.2
Wen, G.3
Yang, G.Y.4
Chaly, T.5
Stewart, C.L.6
Dressman, H.K.7
Barbaro, N.M.8
Marchuk, D.A.9
Young, W.L.10
-
9
-
-
0034457297
-
Familial occurrence of cerebral arteriovenous malformation in sisters: case report and review of the literature
-
Herzig R., Burval S., Vladyke V., Janouskova L., Krivanek P., Krupka B., Vlachova I., Urbanek K. Familial occurrence of cerebral arteriovenous malformation in sisters: case report and review of the literature. Eur. J. Neurol. 2000, 7:95-100.
-
(2000)
Eur. J. Neurol.
, vol.7
, pp. 95-100
-
-
Herzig, R.1
Burval, S.2
Vladyke, V.3
Janouskova, L.4
Krivanek, P.5
Krupka, B.6
Vlachova, I.7
Urbanek, K.8
-
10
-
-
35548960503
-
Arteriovenous malformations of the brain
-
Horton J.C. Arteriovenous malformations of the brain. N. Engl. J. Med. 2007, 357:1774-1775.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 1774-1775
-
-
Horton, J.C.1
-
11
-
-
34247871510
-
Combination of linkage and association studies for brain arteriovenous malformation
-
Inoue S., Liu W., Inoue K., Youhei M., Takenaka K., Yamakawa H., Abe M., Jafar J.J., Herzig R., Koizumi A. Combination of linkage and association studies for brain arteriovenous malformation. Stroke 2007, 38:1368-1370.
-
(2007)
Stroke
, vol.38
, pp. 1368-1370
-
-
Inoue, S.1
Liu, W.2
Inoue, K.3
Youhei, M.4
Takenaka, K.5
Yamakawa, H.6
Abe, M.7
Jafar, J.J.8
Herzig, R.9
Koizumi, A.10
-
12
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson D.W., Berg J.N., Baldwin M.A., Gallione C.J., Marondel I., Yoon S.-J., Stenzel T.T., Speer M., Pericak-Vance M.A., Diamond A., Guttmacher A.E., Jackson C.E., Attisano L., Kucherlapati R., Porteous M.E.M., Marchuk D.A. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat. Genet. 1996, 13:189-195.
-
(1996)
Nat. Genet.
, vol.13
, pp. 189-195
-
-
Johnson, D.W.1
Berg, J.N.2
Baldwin, M.A.3
Gallione, C.J.4
Marondel, I.5
Yoon, S.-J.6
Stenzel, T.T.7
Speer, M.8
Pericak-Vance, M.A.9
Diamond, A.10
Guttmacher, A.E.11
Jackson, C.E.12
Attisano, L.13
Kucherlapati, R.14
Porteous, M.E.M.15
Marchuk, D.A.16
-
13
-
-
0032851217
-
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
-
Laberge-le Couteulx S., Jung H.H., Labauge P., Houtteville J.-P., Lescoat C., Michaelle C., Marechal E., Joutel A., Bach J.-F., Tournier-Lasserve E. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat. Genet. 1999, 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
Michaelle, C.6
Marechal, E.7
Joutel, A.8
Bach, J.-F.9
Tournier-Lasserve, E.10
-
14
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop G.M., Lalouel J.M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. U S A 1984, 81:3443-3446.
-
(1984)
Proc. Natl. Acad. Sci. U S A
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
15
-
-
41749121507
-
Optimization of the Affymetrix GeneChip mapping 10K 2.0 Assay for routine clinical use on formalin-fixed paraffin-embedded tissues
-
Lyons-Weiler M., Hagenkord J., Sciulli C., Dhir R., Monzon F.A. Optimization of the Affymetrix GeneChip mapping 10K 2.0 Assay for routine clinical use on formalin-fixed paraffin-embedded tissues. Diagn. Mol. Pathol. 2008, 17:3-13.
-
(2008)
Diagn. Mol. Pathol.
, vol.17
, pp. 3-13
-
-
Lyons-Weiler, M.1
Hagenkord, J.2
Sciulli, C.3
Dhir, R.4
Monzon, F.A.5
-
16
-
-
33845597334
-
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis
-
Matsuzawa N., Shimozato K., Natsume N., Niikawa N., Yoshiura K. A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. J. Dent. Res. 2006, 85:1143-1146.
-
(2006)
J. Dent. Res.
, vol.85
, pp. 1143-1146
-
-
Matsuzawa, N.1
Shimozato, K.2
Natsume, N.3
Niikawa, N.4
Yoshiura, K.5
-
17
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister K.A., Grogg K.M., Johnson D.W., Gallione C.J., Baldwin M.A., Jackson C.E., Helmbold E.A., Markel D.S., McKinnon W.C., Murrell J., McCormick M.K., Pericak-Vance M.A., Heutink P., Oostra B.A., Haitjema T., Westerman C.J.J., Porteous M.E., Guttmacher A.E., Letarte M., Marchuk D.A. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat. Genet. 1994, 8:345-351.
-
(1994)
Nat. Genet.
, vol.8
, pp. 345-351
-
-
McAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
Gallione, C.J.4
Baldwin, M.A.5
Jackson, C.E.6
Helmbold, E.A.7
Markel, D.S.8
McKinnon, W.C.9
Murrell, J.10
McCormick, M.K.11
Pericak-Vance, M.A.12
Heutink, P.13
Oostra, B.A.14
Haitjema, T.15
Westerman, C.J.J.16
Porteous, M.E.17
Guttmacher, A.E.18
Letarte, M.19
Marchuk, D.A.20
more..
-
18
-
-
37549062256
-
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
-
Nakashima M., Nakano M., Hirano A., Kishino T., Kondoh S., Miwa N., Niikawa N., Yoshiura K. Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. J. Hum. Genet. 2008, 53:34-41.
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 34-41
-
-
Nakashima, M.1
Nakano, M.2
Hirano, A.3
Kishino, T.4
Kondoh, S.5
Miwa, N.6
Niikawa, N.7
Yoshiura, K.8
-
19
-
-
0037283485
-
Alternatives to blood as a source of DNA for large-scale scanning studies of canine genome linkages
-
Oberbauer A.M., Grossman D.I., Eggleston M.L., Irion D.N., Schaffer A.L., Pedersen N.C., Belanger J.M. Alternatives to blood as a source of DNA for large-scale scanning studies of canine genome linkages. Vet. Res. Commun. 2003, 27:27-38.
-
(2003)
Vet. Res. Commun.
, vol.27
, pp. 27-38
-
-
Oberbauer, A.M.1
Grossman, D.I.2
Eggleston, M.L.3
Irion, D.N.4
Schaffer, A.L.5
Pedersen, N.C.6
Belanger, J.M.7
-
20
-
-
46749101035
-
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
-
Revencu N., Boon L.M., Mulliken J.B., Enjolras O., Cordisco M.R., Burrows P.E., Clapuyt P., Hammer F., Dubois J., Baselga E., Brancati F., Carder R., Quintal J.M.C., Dallapiccola B., Fischer G., Frieden I.J., Garzon M., Harper J., Johnson-Patel J., Labreze C., Martorell L., Paltiel H.J., Pohl A., Prendiville J., Quere I., Siegel D.H., Valente E.M., van Hagen A., van Hest L., Vaux K.K., Vicente A., Weibel L., Chitayat D., Vikkula M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum. Mutat. 2008, 29:959-965.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 959-965
-
-
Revencu, N.1
Boon, L.M.2
Mulliken, J.B.3
Enjolras, O.4
Cordisco, M.R.5
Burrows, P.E.6
Clapuyt, P.7
Hammer, F.8
Dubois, J.9
Baselga, E.10
Brancati, F.11
Carder, R.12
Quintal, J.M.C.13
Dallapiccola, B.14
Fischer, G.15
Frieden, I.J.16
Garzon, M.17
Harper, J.18
Johnson-Patel, J.19
Labreze, C.20
Martorell, L.21
Paltiel, H.J.22
Pohl, A.23
Prendiville, J.24
Quere, I.25
Siegel, D.H.26
Valente, E.M.27
van Hagen, A.28
van Hest, L.29
Vaux, K.K.30
Vicente, A.31
Weibel, L.32
Chitayat, D.33
Vikkula, M.34
more..
-
21
-
-
63149086659
-
From germline towards somatic mutations in the pathophysiology of vascular anomalies
-
Revencu N., Boon L.M., Vikkula M. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum. Mol. Genet. 2009, 18(R1):R65-R74.
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.R1
-
-
Revencu, N.1
Boon, L.M.2
Vikkula, M.3
-
22
-
-
34548570340
-
Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis
-
discussion 305
-
Sasahara A., Kasuya H., Akagawa H., Ujiie H., Kubo O., Sasaki T., Onda H., Sakamoto Y., Krischek B., Hori T., Inoue I. Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis. Neurosurg. Rev. 2007, 30:299-305. discussion 305.
-
(2007)
Neurosurg. Rev.
, vol.30
, pp. 299-305
-
-
Sasahara, A.1
Kasuya, H.2
Akagawa, H.3
Ujiie, H.4
Kubo, O.5
Sasaki, T.6
Onda, H.7
Sakamoto, Y.8
Krischek, B.9
Hori, T.10
Inoue, I.11
-
23
-
-
33947512338
-
PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping
-
Suphapeetiporn K., Kongkam P., Tantivatana J., Sinthuwiwat T., Tongkobpetch S., Shotelersuk V. PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. Jpn. J. Clin. Oncol. 2006, 36:814-821.
-
(2006)
Jpn. J. Clin. Oncol.
, vol.36
, pp. 814-821
-
-
Suphapeetiporn, K.1
Kongkam, P.2
Tantivatana, J.3
Sinthuwiwat, T.4
Tongkobpetch, S.5
Shotelersuk, V.6
-
24
-
-
4444305836
-
Hypoxia-inducible factor and vascular endothelial growth factor are expressed more frequently in embolized than in nonembolized cerebral arteriovenous malformations
-
Sure U., Battenberg E., Dempfle A., Tirakotai W., Bien S., Bertalanffy H. Hypoxia-inducible factor and vascular endothelial growth factor are expressed more frequently in embolized than in nonembolized cerebral arteriovenous malformations. Neurosurgery 2004, 55:663-669.
-
(2004)
Neurosurgery
, vol.55
, pp. 663-669
-
-
Sure, U.1
Battenberg, E.2
Dempfle, A.3
Tirakotai, W.4
Bien, S.5
Bertalanffy, H.6
-
25
-
-
10844236365
-
Genetic dissection of the familial cerebral arteriovenous malformation
-
Takenaka K., Muroi J., Yamada S., Yamakawa H., Abe M., Tabuchi K., Koizumi A. Genetic dissection of the familial cerebral arteriovenous malformation. Jpn. J. Neurosurg. 2004, 13:837-845.
-
(2004)
Jpn. J. Neurosurg.
, vol.13
, pp. 837-845
-
-
Takenaka, K.1
Muroi, J.2
Yamada, S.3
Yamakawa, H.4
Abe, M.5
Tabuchi, K.6
Koizumi, A.7
-
26
-
-
77950793271
-
A novel association between RASA1 mutations and spinal rteriovenous anomalies
-
Thiex R., Mulliken J.B., Revencu N., Boon L.M., Burrows P.E., Cordisco M., Dwight Y., Smith E.R., Vikkula M., Orbach D.B. A novel association between RASA1 mutations and spinal rteriovenous anomalies. AJNR. Am. J. Neuroradiol. 2010, 31:775-779.
-
(2010)
AJNR. Am. J. Neuroradiol.
, vol.31
, pp. 775-779
-
-
Thiex, R.1
Mulliken, J.B.2
Revencu, N.3
Boon, L.M.4
Burrows, P.E.5
Cordisco, M.6
Dwight, Y.7
Smith, E.R.8
Vikkula, M.9
Orbach, D.B.10
-
27
-
-
35748967285
-
Familial occurrence of brain arteriovenous malformations: a systematic review
-
van Beijnum J., van der Worp H.B., Schippers H.M., van Nieuwenhuizen O., Kappelle L.J., Rinkel G.J.E., van der Sprenkel J.W.B., Klijn C.J.M. Familial occurrence of brain arteriovenous malformations: a systematic review. J. Neurol. Neurosurg. Psychiatr. 2007, 78:1213-1217.
-
(2007)
J. Neurol. Neurosurg. Psychiatr.
, vol.78
, pp. 1213-1217
-
-
van Beijnum, J.1
van der Worp, H.B.2
Schippers, H.M.3
van Nieuwenhuizen, O.4
Kappelle, L.J.5
Rinkel, G.J.E.6
van der Sprenkel, J.W.B.7
Klijn, C.J.M.8
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