The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

The revised Ghent nosology for the Marfan syndrome

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Detection of 53FBN1mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

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The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

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(2009) M. J. Prodoehl et al.   MOLECULAR HUMAN REPRODUCTION

Genetics of human gene expression: mapping DNA variants that influence gene expression

(2009) Vivian G. Cheung et al.   NATURE REVIEWS GENETICS

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

(2008) L Faivre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression

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