-
1
-
-
0002968064
-
Hereditary hemorrhagic telangiectasia
-
McGraw Hill Scriver CR, Beaudet AL, Sly WS, Valle D 8 23807918
-
Hereditary hemorrhagic telangiectasia. Marchuk DA, Lux A, The Metabolic & Molecular Bases of Inherited Disease McGraw Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 8 2001 5419 23807918
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 5419
-
-
Marchuk, D.A.1
Lux, A.2
-
2
-
-
67649199928
-
Hereditary haemorrhagic telangiectasia: A clinical and scientific review
-
10.1038/ejhg.2009.35 19337313
-
Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Govani FS, Shovlin CL, Eur J Hum Genet 2009 17 860 871 10.1038/ejhg.2009.35 19337313
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 860-871
-
-
Govani, F.S.1
Shovlin, C.L.2
-
3
-
-
79551624460
-
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
-
10.1136/jmg.2009.069013 19553198
-
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous MEM, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJJ, White RI, Young LH, Zarrabeitia R, J Med Genet 2011 48 73 87 10.1136/jmg.2009.069013 19553198
-
(2011)
J Med Genet
, vol.48
, pp. 73-87
-
-
Faughnan, M.E.1
Palda, V.A.2
Garcia-Tsao, G.3
Geisthoff, U.W.4
McDonald, J.5
Proctor, D.D.6
Spears, J.7
Brown, D.H.8
Buscarini, E.9
Chesnutt, M.S.10
Cottin, V.11
Ganguly, A.12
Gossage, J.R.13
Guttmacher, A.E.14
Hyland, R.H.15
Kennedy, S.J.16
Korzenik, J.17
Mager, J.J.18
Ozanne, A.P.19
Piccirillo, J.F.20
Picus, D.21
Plauchu, H.22
Porteous, M.E.M.23
Pyeritz, R.E.24
Ross, D.A.25
Sabba, C.26
Swanson, K.27
Terry, P.28
Wallace, M.C.29
Westermann, C.J.J.30
White, R.I.31
Young, L.H.32
Zarrabeitia, R.33
more..
-
4
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
10.1038/ng1294-345 7894484
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, Nat Genet 1994 8 345 351 10.1038/ng1294-345 7894484
-
(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
-
5
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
DOI 10.1038/ng0696-189
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA, Nat Genet 1996 13 189 195 10.1038/ng0696-189 8640225 (Pubitemid 26000439)
-
(1996)
Nature Genetics
, vol.13
, Issue.2
, 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
-
6
-
-
12144286738
-
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
-
DOI 10.1016/S0140-6736(04)15732-2, PII S0140673604157322
-
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJJ, Marchuk DA, Lancet 2004 363 852 859 10.1016/S0140-6736(04)15732-2 15031030 (Pubitemid 38368834)
-
(2004)
Lancet
, vol.363
, Issue.9412
, pp. 852-859
-
-
Gallione, C.J.1
Repetto, G.M.2
Legius, E.3
Rustgi, A.K.4
Schelley, S.L.5
Tejpar, S.6
Mitchell, G.7
Drouin, E.8
Westermann, C.J.J.9
Marchuk, D.A.10
-
7
-
-
75449083190
-
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
-
10.1002/ajmg.a.33206 20101697
-
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos Van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI, Williams CA, Marchuk DA, Am J Med Genet A 2010 152A 333 339 10.1002/ajmg.a.33206 20101697
-
(2010)
Am J Med Genet A
, vol.152
, pp. 333-339
-
-
Gallione, C.1
Aylsworth, A.S.2
Beis, J.3
Berk, T.4
Bernhardt, B.5
Clark, R.D.6
Clericuzio, C.7
Danesino, C.8
Drautz, J.9
Fahl, J.10
Fan, Z.11
Faughnan, M.E.12
Ganguly, A.13
Garvie, J.14
Henderson, K.15
Kini, U.16
Leedom, T.17
Ludman, M.18
Lux, A.19
Maisenbacher, M.20
Mazzucco, S.21
Olivieri, C.22
Ploos Van Amstel, J.K.23
Prigoda-Lee, N.24
Pyeritz, R.E.25
Reardon, W.26
Vandezande, K.27
Waldman, J.D.28
White, R.I.29
Williams, C.A.30
Marchuk, D.A.31
more..
-
8
-
-
22244449292
-
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
-
DOI 10.1136/jmg.2004.028712
-
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. Cole SG, Begbie ME, Wallace GMF, Shovlin CL, J Med Genet 2005 42 577 582 10.1136/jmg.2004.028712 15994879 (Pubitemid 40993833)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.7
, pp. 577-582
-
-
Cole, S.G.1
Begbie, M.E.2
Wallace, G.M.F.3
Shovlin, C.L.L.4
-
9
-
-
33749455646
-
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
-
DOI 10.1002/ajmg.a.31450
-
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R, Am J Med Genet A 2006 140 2155 2162 16969873 (Pubitemid 44522429)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.20
, pp. 2155-2162
-
-
Bayrak-Toydemir, P.1
McDonald, J.2
Akarsu, N.3
Toydemir, R.M.4
Calderon, F.5
Tuncali, T.6
Tang, W.7
Miller, F.8
Mao, R.9
-
10
-
-
79960845756
-
Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
-
10.1097/GIM.0b013e3182136d32 21546842
-
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. McDonald J, Bayrak-Toydemir P, Pyeritz RE, Genet Med 2011 13 607 616 10.1097/GIM.0b013e3182136d32 21546842
-
(2011)
Genet Med
, vol.13
, pp. 607-616
-
-
McDonald, J.1
Bayrak-Toydemir, P.2
Pyeritz, R.E.3
-
11
-
-
0034007163
-
Diagnostic criteria for Hereditary Hemorrhagic Telangiectasia (Rendu- Osler-Weber Syndrome)
-
DOI 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H, Am J Med Genet 2000 91 66 67 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P 10751092 (Pubitemid 30127562)
-
(2000)
American Journal of Medical Genetics
, vol.91
, Issue.1
, pp. 66-67
-
-
Shovlin, C.L.1
Guttmacher, A.E.2
Buscarini, E.3
Faughnan, M.E.4
Hyland, R.H.5
Westermann, C.J.J.6
Kjeldsen, A.D.7
Plauchu, H.8
-
12
-
-
84861888864
-
A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia: A questionnaire-based retrospective study
-
10.1186/1750-1172-7-33 22676497
-
A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia: a questionnaire-based retrospective study. Pierucci P, Lenato GM, Suppressa P, Lastella P, Triggiani V, Valerio R, Comelli M, Salvante D, Stella A, Resta N, Logroscino G, Resta F, Sabbà C, Orphanet J Rare Dis 2012 7 33 10.1186/1750-1172-7-33 22676497
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 33
-
-
Pierucci, P.1
Lenato, G.M.2
Suppressa, P.3
Lastella, P.4
Triggiani, V.5
Valerio, R.6
Comelli, M.7
Salvante, D.8
Stella, A.9
Resta, N.10
Logroscino, G.11
Resta, F.12
Sabbà, C.13
-
13
-
-
0345600215
-
Antemortem Identification of Bovine Spongiform Encephalopathy from Serum Using Infrared Spectroscopy
-
DOI 10.1021/ac030259a
-
Antemortem identification of bovine spongiform encephalopathy from serum using infrared spectroscopy. Lasch P, Schmitt J, Beekes M, Udelhoven T, Eiden M, Fabian H, Petrich W, Naumann D, Anal Chem 2003 75 6673 6678 10.1021/ac030259a 14640744 (Pubitemid 37493930)
-
(2003)
Analytical Chemistry
, vol.75
, Issue.23
, pp. 6673-6678
-
-
Lasch, P.1
Schmitt, J.2
Beekes, M.3
Udelhoven, T.4
Eiden, M.5
Fabian, H.6
Petrich, W.7
Naumann, D.8
-
14
-
-
0000413911
-
Disease pattern recognition in infrared spectra of human sera with diabetes mellitus as an example
-
10.1364/AO.39.003372 18349906
-
Disease pattern recognition in infrared spectra of human sera with diabetes mellitus as an example. Petrich W, Dolenko B, Früh J, Ganz M, Greger H, Jacob S, Keller F, Nikulin AE, Otto M, Quarder O, Somorjai RL, Staib A, Werner G, Wielinger H, Appl Opt 2000 39 3372 3379 10.1364/AO.39.003372 18349906
-
(2000)
Appl Opt
, vol.39
, pp. 3372-3379
-
-
Petrich, W.1
Dolenko, B.2
Früh, J.3
Ganz, M.4
Greger, H.5
Jacob, S.6
Keller, F.7
Nikulin, A.E.8
Otto, M.9
Quarder, O.10
Somorjai, R.L.11
Staib, A.12
Werner, G.13
Wielinger, H.14
-
15
-
-
0034966422
-
Disease pattern recognition testing for rheumatoid arthritis using infrared spectra of human serum
-
DOI 10.1016/S0009-8981(01)00475-2, PII S0009898101004752
-
Disease pattern recognition testing for rheumatoid arthritis using infrared spectra of human serum. Staib A, Dolenko B, Fink DJ, Früh J, Nikulin AE, Otto M, Pessin-Minsley MS, Quarder O, Somorjai R, Thienel U, Werner G, Petrich W, Clin Chim Acta 2001 308 79 89 10.1016/S0009-8981(01)00475-2 11412819 (Pubitemid 32537612)
-
(2001)
Clinica Chimica Acta
, vol.308
, Issue.1-2
, pp. 79-89
-
-
Staib, A.1
Dolenko, B.2
Fink, D.J.3
Fruh, J.4
Nikulin, A.E.5
Otto, M.6
Pessin-Minsley, M.S.7
Quarder, O.8
Somorjai, R.9
Thienel, U.10
Werner, G.11
Petrich, W.12
-
16
-
-
0038610950
-
Infrared spectroscopic identification of β-thalassemia
-
DOI 10.1373/49.7.1125
-
Infrared spectroscopic identification of beta-thalassemia. Liu KZ, Tsang KS, Li CK, Shaw RA, Mantsch HH, Clin Chem 2003 49 1125 1132 ST-Infrared spectroscopic identificatio 10.1373/49.7.1125 12816909 (Pubitemid 36751099)
-
(2003)
Clinical Chemistry
, vol.49
, Issue.7
, pp. 1125-1132
-
-
Liu, K.-Z.1
Tsang, K.S.2
Li, C.K.3
Shaw, R.A.4
Mantsch, H.H.5
-
17
-
-
77950254668
-
Spectroscopic diagnosis of myocardial infarction and heart failure by Fourier transform infrared spectroscopy in serum samples
-
10.1366/000370210790918508 20223059
-
Spectroscopic diagnosis of myocardial infarction and heart failure by Fourier transform infrared spectroscopy in serum samples. Haas SL, Müller R, Fernandes A, Dzeyk-Boycheva K, Würl S, Hohmann J, Hemberger S, Elmas E, Brückmann M, Bugert P, Backhaus J, Appl Spectrosc 2010 64 262 267 10.1366/000370210790918508 20223059
-
(2010)
Appl Spectrosc
, vol.64
, pp. 262-267
-
-
Haas, S.L.1
Müller, R.2
Fernandes, A.3
Dzeyk-Boycheva, K.4
Würl, S.5
Hohmann, J.6
Hemberger, S.7
Elmas, E.8
Brückmann, M.9
Bugert, P.10
Backhaus, J.11
-
18
-
-
33847198679
-
Clinical chemistry without reagents? An infrared spectroscopic technique for determination of clinically relevant constituents of body fluids
-
10.1007/s00216-006-0841-3 17089104
-
Clinical chemistry without reagents? An infrared spectroscopic technique for determination of clinically relevant constituents of body fluids. Hoşafçi G, Klein O, Oremek G, Mäntele W, Anal Bioanal Chem 2007 387 1815 1822 10.1007/s00216-006-0841-3 17089104
-
(2007)
Anal Bioanal Chem
, vol.387
, pp. 1815-1822
-
-
Hoşafçi, G.1
Klein, O.2
Oremek, G.3
Mäntele, W.4
-
19
-
-
50449103960
-
Prediction of plasma hemoglobin concentration by near-infrared spectroscopy
-
10.3346/jkms.2008.23.4.674 18756056
-
Prediction of plasma hemoglobin concentration by near-infrared spectroscopy. Lee Y, Lee S, In J, Chung S-H, Yon JH, J Korean Med Sci 2008 23 674 677 10.3346/jkms.2008.23.4.674 18756056
-
(2008)
J Korean Med Sci
, vol.23
, pp. 674-677
-
-
Lee, Y.1
Lee, S.2
In, J.3
Chung, S.-H.4
Yon, J.H.5
-
20
-
-
79953698186
-
Biospectroscopy to metabolically profile biomolecular structure: A multistage approach linking computational analysis with biomarkers
-
10.1021/pr101067u 21210632
-
Biospectroscopy to metabolically profile biomolecular structure: a multistage approach linking computational analysis with biomarkers. Kelly JG, Trevisan J, Scott AD, Carmichael PL, Pollock HM, Martin-Hirsch PL, Martin FL, J Proteome Res 2011 10 1437 1448 10.1021/pr101067u 21210632
-
(2011)
J Proteome Res
, vol.10
, pp. 1437-1448
-
-
Kelly, J.G.1
Trevisan, J.2
Scott, A.D.3
Carmichael, P.L.4
Pollock, H.M.5
Martin-Hirsch, P.L.6
Martin, F.L.7
-
21
-
-
0034090097
-
Angiogenesis: Potentials for pharmacologic intervention in the treatment of cancer, cardiovascular diseases, and chronic inflammation
-
Angiogenesis: potentials for pharmacologic intervention in the treatment of cancer, cardiovascular diseases, and chronic inflammation. Griffioen AW, Molema G, Pharmacol Rev 2000 52 237 268 10835101 (Pubitemid 30368433)
-
(2000)
Pharmacological Reviews
, vol.52
, Issue.2
, pp. 237-268
-
-
Griffioen, A.W.1
Molema, G.2
-
22
-
-
0035051834
-
Angiogenesis in pathogenesis of inflammatory joint and lung diseases
-
DOI 10.1186/ar292
-
Angiogenesis in the pathogenesis of inflammatory joint and lung diseases. Walsh DA, Pearson CI, Arthritis Res 2001 3 147 153 10.1186/ar292 11299055 (Pubitemid 32303431)
-
(2001)
Arthritis Research
, vol.3
, Issue.3
, pp. 147-153
-
-
Walsh, D.A.1
Pearson, C.I.2
-
23
-
-
0141453477
-
Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia
-
DOI 10.1159/000072411
-
Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia. Cirulli A, Liso A, D'Ovidio F, Mestice A, Pasculli G, Gallitelli M, Rizzi R, Specchia G, Sabbà C, Acta Haematol 2003 110 29 32 10.1159/000072411 12975554 (Pubitemid 37140401)
-
(2003)
Acta Haematologica
, vol.110
, Issue.1
, pp. 29-32
-
-
Cirulli, A.1
Liso, A.2
D'Ovidio, F.3
Mestice, A.4
Pasculli, G.5
Gallitelli, M.6
Rizzi, R.7
Specchia, G.8
Sabba, C.9
-
24
-
-
21244483045
-
Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression
-
Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression. Sadick H, Riedel F, Naim R, Goessler U, Hörmann K, Hafner M, Lux A, Haematol 2005 90 818 828
-
(2005)
Haematol
, vol.90
, pp. 818-828
-
-
Sadick, H.1
Riedel, F.2
Naim, R.3
Goessler, U.4
Hörmann, K.5
Hafner, M.6
Lux, A.7
-
25
-
-
34548070211
-
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients
-
10.1002/humu.9345 15880681
-
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Schulte C, Geisthoff U, Lux A, Kupka S, Zenner H-P, Blin N, Pfister M, Hum Mutat 2005 25 595 10.1002/humu.9345 15880681
-
(2005)
Hum Mutat
, vol.25
, pp. 595
-
-
Schulte, C.1
Geisthoff, U.2
Lux, A.3
Kupka, S.4
Zenner, H.-P.5
Blin, N.6
Pfister, M.7
-
26
-
-
33644801814
-
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations
-
DOI 10.1111/j.1399-0004.2006.00574.x
-
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Wehner L-E, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K, Clin Genet 2006 69 239 245 10.1111/j.1399-0004.2006.00574.x 16542389 (Pubitemid 43349007)
-
(2006)
Clinical Genetics
, vol.69
, Issue.3
, pp. 239-245
-
-
Wehner, L.-E.1
Folz, B.J.2
Argyriou, L.3
Twelkemeyer, S.4
Teske, U.5
Geisthoff, U.W.6
Werner, J.A.7
Engel, W.8
Nayernia, K.9
|