Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

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2015 nî lūn-bûn

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Differential allelic expressio ...... nt in a Noonan syndrome family

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Differential allelic expressio ...... nt in a Noonan syndrome family

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Maria Teresa Bonati

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Silvia Moncini

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P2860

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

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Structural analysis of autoinhibition in the Ras activator Son of sevenless

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Extreme context specificity in differential allelic expression

Molecular genetics of speciation and human origins

Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Noonan syndrome: clinical aspects and molecular pathogenesis.

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ejhg.2015.20

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1531-1537

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scholarly article

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10.1038/EJHG.2015.20

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4613488

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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

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P2860

P2860

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

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type

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P1433

P1476

P2093

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P2888

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P433

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P932