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

מאת Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
יצא לאור 1996

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

מאת Thompson, K. P., Nelson, J., Kim, H., Pawlikowska, L., Marchuk, D. A., Lawton, M. T., Faughnan, Marie E.
הוצא לאור ב Orphanet J Rare Dis (2021)

A highly polymorphic cDNA probe in the NF1 gene

מאת Andersen, L.B., Wallace, M.R., Marchuk, D.A., Tavakkol, R., Mitchell, A., Saulino, A.M., Collins, F.S.
יצא לאור 1991

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

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

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

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

A 90 kb DNA deletion associated with neurofibromatosis type 1.

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

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

מאת 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
יצא לאור 1997

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

מאת 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
יצא לאור 1994

SMAD4 mutations found in unselected HHT patients

מאת 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
יצא לאור 2006