The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2
Berg, Jonathan N., Gallione, Carol J., Stenzel, Timothy T., Johnson, David W., Allen, William P., Schwartz, Charles E., Jackson, Charles E., Porteous, Mary E.M., Marchuk, Douglas A.
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
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Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Mathers, John C, Elliott, Faye, Macrae, Finlay, Mecklin, Jukka-Pekka, Möslein, Gabriela, McRonald, Fiona E, Bertario, Lucio, Evans, D Gareth, Gerdes, Anne-Marie, Ho, Judy W C, Lindblom, Annika, Morrison, Patrick J, Rashbass, Jem, Ramesar, Raj S, Seppälä, Toni T, Thomas, Huw J W, Sheth, Harsh J, Pylvänäinen, Kirsi, Reed, Lynn, Borthwick, Gillian M, Bishop, D Timothy, Burn, John
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2
Srinivasan, Sudha, Hanes, Martha A., Dickens, Tayeashai, Porteous, Mary E. M., Oh, S. Paul, Hale, Laura P., Marchuk, Douglas A.
Published in Human molecular genetics (01.03.2003)
Published in Human molecular genetics (01.03.2003)
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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor
German Pasteris, N., Cadle, Amy, Logie, Lindsay J., Porteous, Mary E.M., Schwartz, Charles E., Stevenson, Roger E., Glover, Thomas W., Sid Wilroy, R., Gorski, Jerome L.
Published in Cell (01.11.1994)
Published in Cell (01.11.1994)
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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2
GARCIA-MINAUR, Sixto, MAVROGIANNIS, Lampros A, RANNAN-ELIYA, Sahan V, HENDRY, Michael A, LISTON, William A, PORTEOUS, Mary E. M, WILKIE, Andrew O. M
Published in European journal of human genetics : EJHG (01.11.2003)
Published in European journal of human genetics : EJHG (01.11.2003)
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A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12
Johnson, D W, Berg, J N, Gallione, C J, McAllister, K A, Warner, J P, Helmbold, E A, Markel, D S, Jackson, C E, Porteous, M E, Marchuk, D A
Published in Genome research (01.08.1995)
Published in Genome research (01.08.1995)
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Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2
Porteous, M E, Strain, L, Logie, L J, Herd, R M, Benton, E C
Published in Journal of medical genetics (01.04.1998)
Published in Journal of medical genetics (01.04.1998)
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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
Hayward, Caroline, Porteous, Mary E.M., Brock, David J.H.
Published in Molecular and cellular probes (01.08.1994)
Published in Molecular and cellular probes (01.08.1994)
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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative [formula omitted] guanine nucleotide exchange factor
German Pasteris, N., Cadle, Amy, Logie, Lindsay J., Porteous, Mary E.M., Schwartz, Charles E., Stevenson, Roger E., Glover, Thomas W., Sid Wilroy, R., Gorski, Jerome L.
Published in Cell (1994)
Published in Cell (1994)
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Clinical phenotype of desmosterolosis
FitzPatrick, D R, Keeling, J W, Evans, M J, Kan, A E, Bell, J E, Porteous, M E, Mills, K, Winter, R M, Clayton, P T
Published in American journal of medical genetics (13.01.1998)
Published in American journal of medical genetics (13.01.1998)
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