Associated Papers
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.
Goudie D
Genes, 2020
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE et al.
American Journal of Medical Genetics. Part A, 2018
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.
Raimondi D et al.
Nucleic Acids Research, 2017
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Cammareri P et al.
Nature Communications, 2016
27558455 (PubMed )
Supplement: ncomms12493-s16.xlsx › Supplementary_Data_Table_14
The head and neck cancer cell oncogenome: a platform for the development of precision molecular therapies.
Martin D et al.
Oncotarget, 2014
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.
Ferguson-Smith MA et al.
The International Journal of Biochemistry & Cell Biology, 2014
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.
Navarini AA et al.
The Journal of Investigative Dermatology, 2013
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
Kang HC et al.
The Journal of Investigative Dermatology, 2013
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
Machida J et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2009
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