-
1
-
-
0024433417
-
Etude épidémiologique de la meladie de Rendu Osler en France: Répartition géographique et prevalence
-
Bideau A, Plauchu H, Brunet G, Robert JM. Etude épidémiologique de la meladie de Rendu Osler en France: répartition géographique et prevalence. Population 1989: 1: 9-28.
-
(1989)
Population
, vol.1
, pp. 9-28
-
-
Bideau, A.1
Plauchu, H.2
Brunet, G.3
Robert, J.M.4
-
2
-
-
0033007057
-
Hereditary haemorrhagic telangiectasia: A population-based study of prevalence and mortality in Danish patients
-
Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Int Med 1999: 245: 31-39.
-
(1999)
J. Int. Med.
, vol.245
, pp. 31-39
-
-
Kjeldsen, A.D.1
Vase, P.2
Green, A.3
-
3
-
-
0028577146
-
Genetic heterrogeneity in hereditary haemorrhagic teleangiectasia
-
Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterrogeneity in hereditary haemorrhagic teleangiectasia. J Med Genet 1994: 31: 925-926.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 925-926
-
-
Porteous, M.E.M.1
Curtis, A.2
Williams, O.3
Marchuk, D.4
Bhattacharya, S.S.5
Burn, J.6
-
4
-
-
0028283454
-
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9p33-34
-
McDonald MT, Papenberg KA, Ghosh S et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9p33-34. Nat Genet 1994: 6: 197-204.
-
(1994)
Nat. Genet.
, vol.6
, pp. 197-204
-
-
McDonald, M.T.1
Papenberg, K.A.2
Ghosh, S.3
-
5
-
-
0028239861
-
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3
-
Shovlin CL, Hughes JM, Tuddenham EG et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994: 6: 205-209.
-
(1994)
Nat. Genet.
, vol.6
, pp. 205-209
-
-
Shovlin, C.L.1
Hughes, J.M.2
Tuddenham, E.G.3
-
6
-
-
0028171579
-
Endoglin a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangictasia type 1
-
MacAllister KA, Grogg KM, Johnson DW et al. Endoglin a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangictasia type 1. Nat Genet 1994: 8 (4): 345-351.
-
(1994)
Nat. Genet.
, vol.8
, Issue.4
, pp. 345-351
-
-
MacAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
-
7
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson DW, Berg JN, Baldwin MA et al. 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
-
8
-
-
0028295762
-
Characterization of type I receptors for transforming growth factor-beta and activin
-
Ten Dijke P, Yamashita H, Ichijo H et al. Characterization of type I receptors for transforming growth factor-beta and activin. Science 1994: 264 (5155): 101-104.
-
(1994)
Science
, vol.264
, Issue.5155
, pp. 101-104
-
-
Ten Dijke, P.1
Yamashita, H.2
Ichijo, H.3
-
9
-
-
0028057726
-
Endoglin forms a heteromeric complex with the signaling receptors for transforming growth factor-β
-
Yamashita H, Ichijo H, Grimsby S, Morén A, ten Dijke P, Miyazone K. Endoglin forms a heteromeric complex with the signaling receptors for transforming growth factor-β. J Biol Chem 1994: 269 (3): 1995-2001.
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.3
, pp. 1995-2001
-
-
Yamashita, H.1
Ichijo, H.2
Grimsby, S.3
Morén, A.4
ten Dijke, P.5
Miyazone, K.6
-
10
-
-
0030427867
-
Signal transduction by members of the transforming growth factor-superfamily
-
Attisano L, Wrane JL. Signal transduction by members of the transforming growth factor-superfamily. Cytokine Growth Factor Rev 1996: 7 (4): 327-339.
-
(1996)
Cytokine Growth Factor Rev.
, vol.7
, Issue.4
, pp. 327-339
-
-
Attisano, L.1
Wrane, J.L.2
-
11
-
-
12144286738
-
A Combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
-
Gallione CJ, Repetto GM, Legius E et al. A Combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004: 363: 852-859.
-
(2004)
Lancet
, vol.363
, pp. 852-859
-
-
Gallione, C.J.1
Repetto, G.M.2
Legius, E.3
-
12
-
-
0004060316
-
Epidemiological and clinical aspects of hereditary haemorrhagic telangiectasia
-
Odense University: Thesis Mb. Osler
-
Kjeldsen A. Epidemiological and clinical aspects of hereditary haemorrhagic telangiectasia. Odense University: Thesis 1997 Mb. Osler.
-
(1997)
-
-
Kjeldsen, A.1
-
13
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome). Am J Med Genet 2000: 91: 66-67.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 66-67
-
-
Shovlin, C.L.1
Guttmacher, A.E.2
Buscarini, E.3
-
14
-
-
9444282340
-
Clinical symptoms according to genotype HHT1 and HHT2 in patients with hereditary haemorrhagic telangiectasia (HHT)
-
(submitted)
-
Kjeldsen AD, Møller T, Brusgaard K, Vase P, Andersen PE. Clinical symptoms according to genotype HHT1 and HHT2 in patients with hereditary haemorrhagic telangiectasia (HHT). J Med Genet 1994 (submitted).
-
(1994)
J. Med. Genet.
-
-
Kjeldsen, A.D.1
Møller, T.2
Brusgaard, K.3
Vase, P.4
Andersen, P.E.5
-
15
-
-
0030860380
-
Characterization of endoglin and identification of noval mutations in hereditary haemorrhagic telangiectasia
-
Shovlin CL, Hughes JMB, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of noval mutations in hereditary haemorrhagic telangiectasia. Am J Genet 1997: 61: 68-79.
-
(1997)
Am. J. Genet.
, vol.61
, pp. 68-79
-
-
Shovlin, C.L.1
Hughes, J.M.B.2
Scott, J.3
Seidman, C.E.4
Seidman, J.G.5
-
16
-
-
0032535394
-
Cloning of the promoter region of human endoglin, the target gene for hereditary haemorrhagic telangiectasia Type 1
-
Rius C, Smith JD, Almendro N et al. Cloning of the promoter region of human endoglin, the target gene for hereditary haemorrhagic telangiectasia Type 1. Blood 1998: 92 (12): 4677-4690.
-
(1998)
Blood
, vol.92
, Issue.12
, pp. 4677-4690
-
-
Rius, C.1
Smith, J.D.2
Almendro, N.3
-
17
-
-
0023476284
-
Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
-
Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987: 155: 482-501.
-
(1987)
Methods Enzymol.
, vol.155
, pp. 482-501
-
-
Lerman, L.S.1
Silverstein, K.2
-
18
-
-
0019050871
-
Separation of random fragments of DNA according to properties of their sequences
-
Fischer SG, Lerman LS. Separation of random fragments of DNA according to properties of their sequences. Proc Natl Acad Sci USA 1980: 77 (8): 4420-4424.
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, Issue.8
, pp. 4420-4424
-
-
Fischer, S.G.1
Lerman, L.S.2
-
19
-
-
0042316754
-
Standardizing mutation nomenclature: Why bother?
-
Den Dunnen JT, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat 2003: 22: 181-182.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 181-182
-
-
Den Dunnen, J.T.1
Paalman, M.H.2
-
20
-
-
0027126566
-
Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34)
-
Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res 1992: 25 (20): 933.
-
(1992)
Nucleic Acids Res.
, vol.25
, Issue.20
, pp. 933
-
-
Kwiatkowski, D.J.1
Gusella, J.F.2
-
21
-
-
0026582962
-
Construction of a GT polymorphism map of human 9q
-
Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics 1992: 12 (2): 229-240.
-
(1992)
Genomics
, vol.12
, Issue.2
, pp. 229-240
-
-
Kwiatkowski, D.J.1
Henske, E.P.2
Weimer, K.3
Ozelius, L.4
Gusella, J.F.5
Haines, J.6
-
22
-
-
0026736249
-
Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms
-
Hudson TJ, Engelstein M, Lee KK et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 1992: 13: 622-629.
-
(1992)
Genomics
, vol.13
, pp. 622-629
-
-
Hudson, T.J.1
Engelstein, M.2
Lee, K.K.3
-
23
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996: 380: 152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
-
24
-
-
0043133577
-
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia
-
Lastelle P, Sabbà C, Lenato GM et al. Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia. Clin Genet 2003: 63: 536-540.
-
(2003)
Clin. Genet.
, vol.63
, pp. 536-540
-
-
Lastelle, P.1
Sabbà, C.2
Lenato, G.M.3
-
25
-
-
0037405760
-
Characterization of 17 novel endoglin mutations associated with hereditary haemorrhagic telangiectasia
-
Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M. Characterization of 17 novel endoglin mutations associated with hereditary haemorrhagic telangiectasia. Hum Mutat 2003: 21 (5): 482-492.
-
(2003)
Hum. Mutat.
, vol.21
, Issue.5
, pp. 482-492
-
-
Cymerman, U.1
Vera, S.2
Karabegovic, A.3
Abdalla, S.4
Letarte, M.5
-
26
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Askenazi Jews and their recent descent from a smell founder population
-
Risch N, de Leon D, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Askenazi Jews and their recent descent from a smell founder population. Nat Genet 1995: 9: 152-159.
-
(1995)
Nat. Genet.
, vol.9
, pp. 152-159
-
-
Risch, N.1
de Leon, D.2
Ozelius, L.3
-
27
-
-
0030047241
-
Clinical heterogenity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to Endoglin?
-
Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogenity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to Endoglin? J Med Genet 1996: 33: 256-257.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 256-257
-
-
Berg, J.N.1
Guttmacher, A.E.2
Marchuk, D.A.3
Porteous, M.E.4
-
28
-
-
0028585971
-
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: Possible correlation with clinical phenotype
-
McAllister KA, Lennon F, Bowles BB et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 2003: 31: 927-932.
-
(2003)
J. Med. Genet.
, vol.31
, pp. 927-932
-
-
McAllister, K.A.1
Lennon, F.2
Bowles, B.B.3
-
29
-
-
0041326362
-
Hereditary haemorrhagic telangiectasia: A questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
-
Berg J, Porteous M, Reinhardt D et al. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 2003: 40 (8): 585-590.
-
(2003)
J. Med. Genet.
, vol.40
, Issue.8
, pp. 585-590
-
-
Berg, J.1
Porteous, M.2
Reinhardt, D.3
-
30
-
-
0037488236
-
Viceral manifestations in hereditary haemorrhagic telangiectasia type 2
-
Abdalla SA, Geisthoff UW, Bonneau D et al. Viceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 2003: 40: 494-502.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 494-502
-
-
Abdalla, S.A.1
Geisthoff, U.W.2
Bonneau, D.3
-
31
-
-
0030781148
-
Mutant endoglin in hereditary haemorrhagic telangictasia type 1 is transiently expressed intercellularly and is not a dominant negative
-
Pece N, Vera S, Cymerman U, White RI, Wrane JL, Letarte M. Mutant endoglin in hereditary haemorrhagic telangictasia type 1 is transiently expressed intercellularly and is not a dominant negative. J Clin Invest 1997: 100 (10): 2568-2579.
-
(1997)
J. Clin. Invest.
, vol.100
, Issue.10
, pp. 2568-2579
-
-
Pece, N.1
Vera, S.2
Cymerman, U.3
White, R.I.4
Wrane, J.L.5
Letarte, M.6
-
32
-
-
7144222768
-
Mutation and expression analysis of the endoglin gene in hereditary haemorrhagic telangiectasia reveals null alleles
-
Gallione CJ, Klaus DJ, Yeh E et al. Mutation and expression analysis of the endoglin gene in hereditary haemorrhagic telangiectasia reveals null alleles. Hum Mutat 1998: 11 (4): 286-294.
-
(1998)
Hum. Mutat.
, vol.11
, Issue.4
, pp. 286-294
-
-
Gallione, C.J.1
Klaus, D.J.2
Yeh, E.3
-
33
-
-
0028786163
-
Six novel mutations in the endoglin gene in hereditary haemorrhagic telangictasia type 1 suggest a dominant-negative effect of receptor function
-
MacAllister KA, Baldwin MA, Thukkani AK et al. Six novel mutations in the endoglin gene in hereditary haemorrhagic telangictasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet 1995: 4 (10): 1983-1985.
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.10
, pp. 1983-1985
-
-
MacAllister, K.A.1
Baldwin, M.A.2
Thukkani, A.K.3
-
34
-
-
0031045556
-
A noval missense mutation in the endoglin gene in hereditary haemorrhagic telangictasia
-
Yamaguchi H, Azuma H, Shigekiyo T, Inoue H, Saito S. A noval missense mutation in the endoglin gene in hereditary haemorrhagic telangictasia. Thromb Haemost 1997: 77 (2): 243-247.
-
(1997)
Thromb. Haemost.
, vol.77
, Issue.2
, pp. 243-247
-
-
Yamaguchi, H.1
Azuma, H.2
Shigekiyo, T.3
Inoue, H.4
Saito, S.5
-
35
-
-
17144461860
-
Endoglin gene polymorphism as a risk factor for sporadic intercerebral hemorrhage
-
Alberts MJ, Davis JP, Craffagnino C et al. Endoglin gene polymorphism as a risk factor for sporadic intercerebral hemorrhage. Ann Neurol 1997: 41 (5): 683-686.
-
(1997)
Ann. Neurol.
, vol.41
, Issue.5
, pp. 683-686
-
-
Alberts, M.J.1
Davis, J.P.2
Craffagnino, C.3
-
36
-
-
0028283454
-
A disease locus for hereditary haemorrhagic telangictasia maps to chromosome 9q33-34
-
McDonald MT, Papenberg KA, Ghosh S et al. A disease locus for hereditary haemorrhagic telangictasia maps to chromosome 9q33-34. Nat Genet 1994: 6: 197-204.
-
(1994)
Nat. Genet.
, vol.6
, pp. 197-204
-
-
McDonald, M.T.1
Papenberg, K.A.2
Ghosh, S.3
-
37
-
-
0036164129
-
Genetic epidemiology of hereditary haemorrhagic telangiectasia in a local community in the northern part of Japan
-
Dakeishi M, Shioya T, Wade Y et al. Genetic epidemiology of hereditary haemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002: 19: 140-148.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 140-148
-
-
Dakeishi, M.1
Shioya, T.2
Wade, Y.3
-
38
-
-
11144356696
-
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France
-
Lesca G, Plauchu H, Couler F et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 2004: 23: 289-299.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 289-299
-
-
Lesca, G.1
Plauchu, H.2
Couler, F.3
-
39
-
-
0030813490
-
The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary haemorrhagic telangectasia type 2
-
Berg JN, Gallione CJ, Stenzel TT et al. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary haemorrhagic telangectasia type 2. Am J Genet 1997: 61: 60-67.
-
(1997)
Am. J. Genet.
, vol.61
, pp. 60-67
-
-
Berg, J.N.1
Gallione, C.J.2
Stenzel, T.T.3
-
40
-
-
0008499804
-
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary haemorrhagic telangictasia
-
(online)
-
Klaus DJ, Gallione CJ, Anthony K. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary haemorrhagic telangictasia. Hum Mutat (online) 1998: 164.
-
(1998)
Hum. Mutat.
, pp. 164
-
-
Klaus, D.J.1
Gallione, C.J.2
Anthony, K.3
-
41
-
-
0035253793
-
New mutations in the ALK1 gene and relation to the clinical manifestation of HHT in two large Danish families
-
Kjeldsen A, Brusgaard K, Kruse T, Rasmussen K, Green A, Vase P. New mutations in the ALK1 gene and relation to the clinical manifestation of HHT in two large Danish families. Am J Med Genet 2001: 98 (4): 298-302.
-
(2001)
Am. J. Med. Genet.
, vol.98
, Issue.4
, pp. 298-302
-
-
Kjeldsen, A.1
Brusgaard, K.2
Kruse, T.3
Rasmussen, K.4
Green, A.5
Vase, P.6
-
42
-
-
0035695977
-
Mutation analysis of a family with hereditary haemorrhagic telangiectasia associated with hepatic arteriovenous malformation
-
Lin WD, Wu JY, Hsu HB, Tsai FJ, Lee CC, Tsai CH. Mutation analysis of a family with hereditary haemorrhagic telangiectasia associated with hepatic arteriovenous malformation. J Formos Med Assoc 2001: 100 (12): 817-819.
-
(2001)
J. Formos Med. Assoc.
, vol.100
, Issue.12
, pp. 817-819
-
-
Lin, W.D.1
Wu, J.Y.2
Hsu, H.B.3
Tsai, F.J.4
Lee, C.C.5
Tsai, C.H.6
-
43
-
-
0035797556
-
Clinical and molecular genetic features of pulomonary hypertension in patients with hereditary haemorrhagic telangiectasia
-
Trembath RC, Thomson JR, Machado RD et al. Clinical and molecular genetic features of pulomonary hypertension in patients with hereditary haemorrhagic telangiectasia. N Engl J Med 2001: 345: 325-334.
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 325-334
-
-
Trembath, R.C.1
Thomson, J.R.2
Machado, R.D.3
-
44
-
-
0038364150
-
Disease-associated mutations in conserved residues of ALK-1 kinase domain
-
Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M. Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 2003: 11: 279-287.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 279-287
-
-
Abdalla, S.A.1
Cymerman, U.2
Johnson, R.M.3
Deber, C.M.4
Letarte, M.5
-
45
-
-
0002890404
-
An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms of local excision
-
Basher LH, Blake A, Byrd BR. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms of local excision. Surgery 1959: 45: 91-104.
-
(1959)
Surgery
, vol.45
, pp. 91-104
-
-
Basher, L.H.1
Blake, A.2
Byrd, B.R.3
-
46
-
-
0030663612
-
Embolotherapy of large pulmonary arteriovenous malformations: Long-term results
-
Lee DW, White RI Jr, Egglin TK et al. Embolotherapy of large pulmonary arteriovenous malformations: long-term results. Ann Thorac Surg 1997: 64: 930-940.
-
(1997)
Ann. Thorac. Surg.
, vol.64
, pp. 930-940
-
-
Lee, D.W.1
White Jr., R.I.2
Egglin, T.K.3
-
47
-
-
0033906469
-
Two common endoglin mutations in families with hereditary haemorrhagic telangictasia in the Netherlands Antilles evidence for a founder effect
-
Gallione CJ, Scheessele EA, Reinhardt D et al. Two common endoglin mutations in families with hereditary haemorrhagic telangictasia in the Netherlands Antilles evidence for a founder effect. Hum Genet 2000: 107 (1): 40-44.
-
(2000)
Hum. Genet.
, vol.107
, Issue.1
, pp. 40-44
-
-
Gallione, C.J.1
Scheessele, E.A.2
Reinhardt, D.3
|