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

由 Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
出版 1996

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

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

A highly polymorphic cDNA probe in the NF1 gene

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

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

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

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

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

A 90 kb DNA deletion associated with neurofibromatosis type 1.

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

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

由 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
出版 1997

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

由 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
出版 1994

SMAD4 mutations found in unselected HHT patients

由 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
出版 2006