-
1
-
-
0026683949
-
Hereditary haemorrhagic telangiectasia: A clinical analysis
-
Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: A clinical analysis. J Med Genet 1992;/29:/ 527-530
-
(1992)
J Med Genet
, vol.29
, pp. 527-530
-
-
Porteous, M.E.1
Burn, J.2
Proctor, S.J.3
-
2
-
-
0022502919
-
Gastrointestinal lesions in hereditary hemorrhagic telangiectasia
-
Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986;/91:/ 1079-1083
-
(1986)
Gastroenterology
, vol.91
, pp. 1079-1083
-
-
Vase, P.1
Grove, O.2
-
3
-
-
19944426783
-
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutation in Dutch patients
-
Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutation in Dutch patients. Hum Genet 2005;/116:/8-16.
-
(2005)
Hum Genet
, vol.116
, pp. 8-16
-
-
Letteboer, T.G.1
Zewald, R.A.2
Kamping, E.J.3
De Haas, G.4
Mager, J.J.5
Snijder, R.J.6
-
4
-
-
34247519602
-
Health-related quality of life in hereditary hemorrhagic telangiectasia
-
discussion 734-735
-
Geisthoff UW, Heckmann K, D'Amelio R, Grünewald S, Knöbber D, Falkai P, et al. Health-related quality of life in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 2007;136:726-33; discussion 734-735
-
(2007)
Otolaryngol Head Neck Surg
, vol.136
, pp. 726-33
-
-
Geisthoff, U.W.1
Heckmann, K.2
D'Amelio, R.3
Grünewald, S.4
Knöbber, D.5
Falkai, P.6
-
5
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;/91:/66-7.
-
(2000)
Am J Med Genet
, vol.91
, 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.6
-
6
-
-
13844297132
-
Health-related quality of life in a rare disease: Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease
-
Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C. Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res 2004;/13:/ 1715-1723
-
(2004)
Qual Life Res
, vol.13
, pp. 1715-1723
-
-
Pasculli, G.1
Resta, F.2
Guastamacchia, E.3
Di Gennaro, L.4
Suppressa, P.5
Sabbà, C.6
-
7
-
-
33749455646
-
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
-
Bayrak-Toydemir P, McDonald J, Arkusu N, Toydemir RM, Calderon F, Tuncali T, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet 2006;/140:/2155-62.
-
(2006)
Am J Med Genet
, vol.140
, pp. 2155-2162
-
-
Bayrak-Toydemir, P.1
McDonald, J.2
Arkusu, N.3
Toydemir, R.M.4
Calderon, F.5
Tuncali, T.6
-
8
-
-
0034694856
-
Ethical principles for medical research involving human subjects
-
World Medical Association Declaration of Helsinki
-
World Medical Association Declaration of Helsinki. Ethical principles for medical research involving human subjects. JAMA 2000;284:3043-3045
-
(2000)
JAMA
, vol.284
, pp. 3043-3045
-
-
-
9
-
-
34548070211
-
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients
-
Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, et al. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Hum Mutat 2005;/25:/ 595-601.
-
(2005)
Hum Mutat
, vol.25
, pp. 595-601
-
-
Schulte, C.1
Geisthoff, U.2
Lux, A.3
Kupka, S.4
Zenner, H.P.5
Blin, N.6
-
10
-
-
0028171579
-
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, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;/8:/345- 51.
-
(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
-
11
-
-
0030050973
-
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, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;/13:/189-95.
-
(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
-
12
-
-
0037097683
-
Quality of life measurement: Bibliographic study of patient assessed health outcome measures
-
Garratt A, Schmidt L, Mackintosh A, Fitzpatrick R. Quality of life measurement: bibliographic study of patient assessed health outcome measures. BMJ 2002;/324:/1417.
-
(2002)
BMJ
, vol.324
, pp. 1417
-
-
Garratt, A.1
Schmidt, L.2
MacKintosh, A.3
Fitzpatrick, R.4
-
13
-
-
0034671279
-
The SF-36 Health Survey Update
-
Ware JE. The SF-36 Health Survey Update. Spine 2000;/25:/ 3130-3219
-
(2000)
Spine
, vol.25
, pp. 3130-3219
-
-
Ware, J.E.1
-
14
-
-
0041189568
-
SF-36 Fragebogen zum Gesundheitszustand
-
Bern: Hogrefe Verlag fü r Psychologie Göttingen
-
Bullinger M, Kirchberger I. SF-36 Fragebogen zum Gesundheitszustand. Handanweisung. Bern: Hogrefe Verlag fü r Psychologie Göttingen; 1998.
-
(1998)
Handanweisung
-
-
Bullinger, M.1
Kirchberger, I.2
-
15
-
-
0036387761
-
The SF-36 questionnaire and its usefulness in population studies: Results of the German Health Interview and Examination Survey 1998
-
Kurth BM, Ellert U. The SF-36 questionnaire and its usefulness in population studies: results of the German Health Interview and Examination Survey 1998. Soz Prä- ventivmed 2002;/47:/266-77.
-
(2002)
Soz Prä- Ventivmed
, vol.47
, pp. 266-277
-
-
Kurth, B.M.1
Ellert, U.2
-
16
-
-
11944272254
-
Quantitative methods in psychology: A power primer
-
Cohen J. Quantitative methods in psychology: A power primer. Psychol Bull 1992;/112:/155-9.
-
(1992)
Psychol Bull
, vol.112
, pp. 155-159
-
-
Cohen, J.1
-
17
-
-
0030047241
-
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin?
-
Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;/33:/256-7.
-
(1996)
J Med Genet
, vol.33
, pp. 256-7
-
-
Berg, J.N.1
Guttmacher, A.E.2
Marchuk, D.A.3
Porteous, M.E.4
-
18
-
-
0031695806
-
Genetic abnormalities in hereditary hemorrhagic telangiectasia
-
Marchuk DA. Genetic abnormalities in hereditary hemorrhagic telangiectasia. Curr Opin Hematol 1998;/5:/332-8.
-
(1998)
Curr Opin Hematol
, vol.5
, pp. 332-338
-
-
Marchuk, D.A.1
-
19
-
-
0034648503
-
Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
-
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet 2000;/93:/320-7.
-
(2000)
Am J Med Genet
, vol.93
, pp. 320-327
-
-
McDonald, J.E.1
Miller, F.J.2
Hallam, S.E.3
Nelson, L.4
Marchuk, D.A.5
Ward, K.J.6
-
20
-
-
27744547101
-
Management of epistaxis in hereditary hemorrhagic teleangiectasia by Nd:YAG laser and quality of life assessment using HR-QOL questionnaire
-
Karapantzos I, Tsimpiris N, Goulis DG, Van Hoecke H, Van Cauwenberge P, Danielides V. Management of epistaxis in hereditary hemorrhagic teleangiectasia by Nd:YAG laser and quality of life assessment using HR-QOL questionnaire. Eur Arch Otorhinolaryngol 2005;/262:/830-3.
-
(2005)
Eur Arch Otorhinolaryngol
, vol.262
, pp. 830-833
-
-
Karapantzos, I.1
Tsimpiris, N.2
Goulis, D.G.3
Van Hoecke, H.4
Van Cauwenberge, P.5
Danielides, V.6
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