The ACVRL1 c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1262-1267

John Wiley & Sons Inc

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Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans

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Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1153-1160

Oxford University Press

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Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1

By Pece-Barbara Nadia   Cymerman Urszula   Vera Sonia   Marchuk Douglas A.   Letarte Michelle  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2171-2181

Oxford University Press

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Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer

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Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 2, 2016-03 ,pp. : 232-236

John Wiley & Sons Inc

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

By Piton Amlie   Michaud Jacques L.   Peng Huashan   Aradhya Swaroop   Gauthier Julie   Mottron Laurent   Champagne Nathalie   Lafrenire Ronald G.   Hamdan Fadi F.   Joober Ridha   Fombonne Eric   Marineau Claude   Cossette Patrick   Dub Marie-Pierre   Haghighi Pejmun   Drapeau Pierre   Barker Philip A.   Carbonetto Salvatore   Rouleau Guy A.  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3965-3974

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