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

ανά Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
Έκδοση 1996

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

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

A highly polymorphic cDNA probe in the NF1 gene

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

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

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

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

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

A 90 kb DNA deletion associated with neurofibromatosis type 1.

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

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

ανά 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
Έκδοση 1997

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

ανά 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
Έκδοση 1994

SMAD4 mutations found in unselected HHT patients

ανά 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
Έκδοση 2006