Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

by Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
Published 1996

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

by Thompson, K. P., Nelson, J., Kim, H., Pawlikowska, L., Marchuk, D. A., Lawton, M. T., Faughnan, Marie E.
Published in Orphanet J Rare Dis (2021)

A highly polymorphic cDNA probe in the NF1 gene

by Andersen, L.B., Wallace, M.R., Marchuk, D.A., Tavakkol, R., Mitchell, A., Saulino, A.M., Collins, F.S.
Published 1991

A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]

by Andersen, L.B., Wallace, M.R., Marchuk, D.A., Cawthon, R.M., Odeh, H.M., Letcher, R., White, R.L., Collins, F.S.
Published 1991

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.

by Andersen, L B, Ballester, R, Marchuk, D A, Chang, E, Gutmann, D H, Saulino, A M, Camonis, J, Wigler, M, Collins, F S
Published 1993

A 90 kb DNA deletion associated with neurofibromatosis type 1.

by Upadhyaya, M, Cheryson, A, Broadhead, W, Fryer, A, Shaw, D J, Huson, S, Wallace, M R, Andersen, L B, Marchuk, D A, Viskochil, D
Published 1990

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

by Berg, J N, Gallione, C J, Stenzel, T T, Johnson, D W, Allen, W P, Schwartz, C E, Jackson, C E, Porteous, M E, Marchuk, D A
Published 1997

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

by McAllister, K A, Lennon, F, Bowles-Biesecker, B, McKinnon, W C, Helmbold, E A, Markel, D S, Jackson, C E, Guttmacher, A E, Pericak-Vance, M A, Marchuk, D A
Published 1994

SMAD4 mutations found in unselected HHT patients

by Gallione, C J, Richards, J A, Letteboer, T G W, Rushlow, D, Prigoda, N L, Leedom, T P, Ganguly, A, Castells, A, van Amstel, J K Ploos, Westermann, C J J, Pyeritz, R E, Marchuk, D A
Published 2006