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

por Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
Publicado em 1996

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

por Thompson, K. P., Nelson, J., Kim, H., Pawlikowska, L., Marchuk, D. A., Lawton, M. T., Faughnan, Marie E.
Publicado no Orphanet J Rare Dis (2021)

A highly polymorphic cDNA probe in the NF1 gene

por Andersen, L.B., Wallace, M.R., Marchuk, D.A., Tavakkol, R., Mitchell, A., Saulino, A.M., Collins, F.S.
Publicado em 1991

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

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

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

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

A 90 kb DNA deletion associated with neurofibromatosis type 1.

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

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

por 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
Publicado em 1997

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

por 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
Publicado em 1994

SMAD4 mutations found in unselected HHT patients

por 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
Publicado em 2006