Search Results - "Porteous, MEM"

Life expectancy in British Marfan syndrome populations by Gray, JR, Bridges, AB, West, RR, McLeish, L., Stuart, AG, Dean, JCS, Porteous, MEM, Boxer, M., Davies, SJ

“…A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45…”
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Accuracy of reporting of family history of colorectal cancer by Mitchell, R J, Brewster, D, Campbell, H, Porteous, M E M, Wyllie, A H, Bird, C C, Dunlop, M G

“…Background and aims: Family history is used extensively to estimate the risk of colorectal cancer but there is considerable potential for recall bias and…”
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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2 by Srinivasan, Sudha, Hanes, Martha A., Dickens, Tayeashai, Porteous, Mary E. M., Oh, S. Paul, Hale, Laura P., Marchuk, Douglas A.

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by the age-dependent development of focal arteriovenous…”
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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 by Johnson, D.W, Berg, J.N, Baldwin, M.A, Gallione, C.J, Marondel, I, Yoon, S.-J, Stenzel, T.T, Speer, M, Pericak-Vance, M.A, Diamond, A, Guttmacher, A.E, Jackson, C.E, Attisano, L, Kucherlapati, R, Porteous, M.E.M, Marchuk, D.A

“…Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been…”
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Prevalence of family history of colorectal cancer in the general population by Mitchell, R. J., Campbell, H., Farrington, S. M., Brewster, D. H., Porteous, M. E. M., Dunlop, M. G.

“…Background: Robust estimates of the prevalence of a family history of colorectal cancer in the general population are essential to inform planning of provision…”
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The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 by 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.

“…The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT). In…”
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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor by Pasteris, N G, Cadle, A, Logie, L J, Porteous, M E, Schwartz, C E, Stevenson, R E, Glover, T W, Wilroy, R S, Gorski, J L

“…Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by disproportionately short stature…”
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Colonoscopy surveillance of individuals at risk of familial colorectal cancer by Bradshaw, N, Holloway, S, Penman, I, Dunlop, M G, Porteous, M E M

“…Background: Individuals with first degree relatives affected with colorectal cancer (CRC) at a young age, or more than one relative affected but who do not…”
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A cross-sectional survey to estimate the prevalence of family history of colorectal, breast and ovarian cancer in a Scottish general practice population by WALLACE, E, HINDS, A, CAMPBELL, H, MACKAY, J, CETNARSKYJ, R, PORTEOUS, M. E. M

“…A cross-sectional survey of all patients aged 30-65 in four general practices within one Local Health Care Co-operative in Fife, Scotland was undertaken to…”
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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2 by GARCIA-MINAUR, Sixto, MAVROGIANNIS, Lampros A, RANNAN-ELIYA, Sahan V, HENDRY, Michael A, LISTON, William A, PORTEOUS, Mary E. M, WILKIE, Andrew O. M

“…The combination of skull defects in the form of enlarged parietal foramina (PFM) and deficient ossification of the clavicles is known as parietal foramina with…”
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Hereditary haemorrhagic telangiectasia: a clinical analysis by Porteous, M E, Burn, J, Proctor, S J

“…Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose…”
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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? by Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E

“…Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate…”
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A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12 by 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

“…Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia. Initial linkage studies identified…”
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Molecular genetics in gastroenterology: from research success to clinical application? by Satsangi, Jack, Campbell, Harry, Dunlop, Malcolm G, Porteous, Mary EM

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Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2 by Porteous, M E, Strain, L, Logie, L J, Herd, R M, Benton, E C

“…Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British…”
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Intelligence and development in Aarskog syndrome by Logie, Lindsay J, Porteous, Mary E M

“…AIM To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome. METHODS 21 boys under 17 years of age with a…”
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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly by Hayward, C, Porteous, M E, Brock, D J

“…Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a…”
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Food aversion and facial dysmorphism--a newly described syndrome? by Keng, W T, Cole, T, Pilz, D, Porteous, M E M

“…We report three children with food aversion and characteristic facial dysmorphism, long digits and genitourinary abnormality. Interrogation of the London…”
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Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques by Hayward, C, Porteous, M E, Brock, D J

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Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients by Hayward, C, Rae, A L, Porteous, M E, Logie, L J, Brock, D J

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