Associated Papers
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.
Meng L et al.
Bmc Medical Genomics, 2023
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Liepina L et al.
American Journal of Medical Genetics. Part A, 2022
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
Aswath N et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2018
The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.
Lee H et al.
Scientific Reports, 2017
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.
Mory A et al.
Pediatric Neurology, 2014
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
Mory A et al.
American Journal of Human Genetics, 2012
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