PMC Links for OMIM (Select 600376) - PMC

Select item 17355401.

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

J Berg, M Porteous, D Reinhardt, C Gallione, S Holloway, T Umasunthar, A Lux, W McKinnon, D Marchuk, A Guttmacher

J Med Genet. 2003 Aug; 40(8): 585–590. doi: 10.1136/jmg.40.8.585

PMCID:: PMC1735540

Summary PDF–172K

Select item 17355372.

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

S Abdalla, U Geisthoff, D Bonneau, H Plauchu, J McDonald, S Kennedy, M Faughnan, M Letarte

J Med Genet. 2003 Jul; 40(7): 494–502. doi: 10.1136/jmg.40.7.494

PMCID:: PMC1735537

Summary PDF–254K

Select item 17353423.

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

R Harrison, J Flanagan, M Sankelo, S Abdalla, J Rowell, R Machado, C Elliott, I Robbins, H Olschewski, V McLaughlin, E Gruenig, F Kermeen, T Laitinen, N Morrell, R Trembath

J Med Genet. 2003 Dec; 40(12): 865–871. doi: 10.1136/jmg.40.12.865

Correction in:: J Med Genet. 2004 Jul; 41(7): 576.

PMCID:: PMC1735342

Summary PDF–532K

Select item 17158574.

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

J N Berg, C J Gallione, T T Stenzel, D W Johnson, W P Allen, C E Schwartz, C E Jackson, M E Porteous, D A Marchuk

Am J Hum Genet. 1997 Jul; 61(1): 60–67. doi: 10.1086/513903

PMCID:: PMC1715857

Summary Page Browse PDF–1.4M

Select item 10166935.

Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.

P Heutink, T Haitjema, G J Breedveld, B Janssen, L A Sandkuijl, C J Bontekoe, C J Westerman, B A Oostra

J Med Genet. 1994 Dec; 31(12): 933–936. doi: 10.1136/jmg.31.12.933

PMCID:: PMC1016693

Summary Page Browse PDF–694K

Select item 10166926.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

K A McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold, D S Markel, C E Jackson, A E Guttmacher, M A Pericak-Vance, D A Marchuk

J Med Genet. 1994 Dec; 31(12): 927–932. doi: 10.1136/jmg.31.12.927

PMCID:: PMC1016692

Summary Page Browse PDF–1.0M

Select item 10166917.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

M E Porteous, A Curtis, O Williams, D Marchuk, S S Bhattacharya, J Burn

J Med Genet. 1994 Dec; 31(12): 925–926. doi: 10.1136/jmg.31.12.925

PMCID:: PMC1016691

Summary Page Browse PDF–326K

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