SCOPUS 정보 검색 플랫폼

American Journal of Medical Genetics

Volumn 98, Issue 4, 2001, Pages 298-302

Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

(7) Kjeldsen, A D a,b Brusgaard, K b Poulsen, L b Kruse, T c Rasmussen, K d Green, A d Vase, P d

a UNIVERSITY OF SOUTHERN DENMARK (Denmark)

b ODENSE UNIVERSITY HOSPITAL (Denmark)

c AARHUS UNIVERSITY (Denmark)

d Department of Otorhinolaryngology ^* (Denmark)

Author keywords

Genetics; GI bleeding; HHT; Mb.Osler; PAVM

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CHROMOSOME 9; DENMARK; ENDOTHELIUM CELL; EXON; GENE MUTATION; GENETICS; HUMAN; HUMAN CELL; MULTIGENE FAMILY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS; DENMARK; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 0035253793 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K Document Type: Article

Times cited : (41)

References (16)

1
- 0032210396
- Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
- (1998) Acta Radiol , vol.39 , pp. 723-726
- Andersen, P.E.¹ Kjeldsen, A.D.² Oxhoj, H.³ Vase, P.⁴ White, R.⁵

2
- 0030047241
- Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin?
- (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

3
- 0030813490
- The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
- (1997) Am J Hum Genet , vol.61 , pp. 60-67
- Berg, J.N.¹ Gallione, C.J.² Stenzel, T.T.³ Johnson, D.W.⁴ Allen, W.P.⁵ Schwartz, C.E.⁶ Jackson, C.E.⁷ Porteous, M.E.⁸ Marchuk, D.A.⁹

4
- 0019050871
- Separation of random fragments of DNA according to properties of their sequences
- (1980) Proc Natl Acad Sci USA , vol.77 , pp. 4420-4424
- Fischer, S.G.¹ Lerman, L.S.²

5
- 0030050973
- Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
- (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

6
- 0004060316
- Mb. Osler. Thesis, Odense University Denmark
- (1998) Epidemiological and clinical aspects of hereditary haemorrhagic telangiectasia
- Kjeldsen, A.D.¹

7
- 0033953054
- Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia
- (2000) Am J Gastroenterol , vol.95 , pp. 415-418
- Kjeldsen, A.D.¹ Kjeldsen, J.²

8
- 0032809791
- Pulmonary arteriovenous malformations. Screening procedures and pulmonary angiography in HHT patients
- (1999) Chest , vol.116 , pp. 432-440
- Kjeldsen, A.D.¹ Oxhøj, H.² Andersen, P.E.³ Elle, B.⁴ Jacobsen, J.P.⁵ Vase, P.⁶

9
- 0033007057
- Hereditary hemorrhagic telangiectasia, HHT. A population-based study of prevalence and mortality in Danish HHT patients
- (1999) J Int Med , vol.245 , pp. 31-41
- Kjeldsen, A.D.¹ Vase, P.² Green, A.³

10
- 0028171579
- Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
- (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..

11
- 0028585971
- Genetic herterogeneity in hereditary hemorrhagic telangiectasia: Possible correlation with clinical phenotype
- (1994) J Med Genet , vol.31 , pp. 927-932
- McAllister, K.A.¹ Lennon, F.² Bowles Biesecker, B.³ McKinnon, W.C.⁴ Helmbold, E.A.⁵ Markel, D.S.⁶ Jackson, C.E.⁷ Guttmacher, A.E.⁸ Pericak Vance, M.A.⁹ Marchuk, D.A.¹⁰

12
- 0028786163
- Six novel mutations in the endoglin gene in hereditary hemorrhagic telengiectasia type 1 suggest a dominant-negative effect of receptor function
- (1995) Hum Mol Genet , vol.4 , pp. 1983-1985
- McAllister, K.A.¹ Baldwin, M.A.² Thukkani, A.K.³ Gallione, C.J.⁴ Berg, J.N.⁵ Porteous, M.E.⁶ Guttmacher, A.E.⁷ Marchuk, D.A.⁸

13
- 0001210867
- On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes
- (1901) Bull Johns Hopkins Hosp , vol.28 , pp. 401-403
- Osler, W.¹

14
- 0032799731
- Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms
- (1999) Thorax , vol.54 , pp. 714-729
- Shovlin, C.L.¹ Letarte, M.²

15
- 0034007163
- Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
- (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 Kjeldsen, A.D.⁷ Plauchu, H.⁸

16
- 0006471750
- Thesis, Odense University, Denmark
- (1988) Telangiectasia haemorrhagica hereditaria, Mb. Osler [En epidemiologisk, genetisk og klinisk undersøgelse]
- Vase, P.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.