Concepedia

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases

Jamie McDonald, Friederike Gedge, Allene Burdette, James Carlisle, Changkuoth Jock Bukjiok, Michelle Fox, Pinar Bayrak‐Toydemir

Journal of Molecular Diagnostics · 2009 · 17 citations · 23 references

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23

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

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Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini et al. · American Journal of Medical Genetics · 2000 · 1.7K citations

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Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Kimberly A. McAllister, K.M. Grogg, David W. Johnson et al. · Nature Genetics · 1994 · 1.5K citations · Full text

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards, Sherri J. Bale, Daniel B. Bellissimo et al. · Genetics in Medicine · 2008 · 822 citations · Full text

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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione, Gabriela M. Repetto, Eric Legius et al. · The Lancet · 2004 · 754 citations

, , +11