Associated Papers
A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.
Townley BA et al.
Molecular Cell, 2023
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
Strang-Karlsson S et al.
American Journal of Medical Genetics. Part A, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Heller ER et al.
The Journal of Investigative Dermatology, 2015
New clinico-genetic classification of trichothiodystrophy.
Morice-Picard F et al.
American Journal of Medical Genetics. Part A, 2009
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Botta E et al.
Human Mutation, 2007
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K et al.
American Journal of Human Genetics, 2005
Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.
Lanzafame M et al.
Mutation Research. Reviews in Mutation Research, 0
Select a paper to view details