Associated Papers
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 2020
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Chen RZ et al.
Scientific Reports, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome.
Corsi AK et al.
Development (cambridge, England), 2002
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
El Ghouzzi V et al.
Febs Letters, 2001
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA et al.
American Journal of Human Genetics, 1998
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Howard TD et al.
Nature Genetics, 1997
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