Associated Papers
Genetic testing in autosomal dominant polycystic kidney disease: why it matters in 2025.
Cornec-Le Gall E et al.
Clinical Kidney Journal, 2025
[Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.
Kohsaka S et al.
Npj Precision Oncology, 2024
Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene.
Schultz C et al.
Journal of Nephrology, 2023
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE et al.
Human Molecular Genetics, 2022
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA et al.
Clinical Genetics, 2022
Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes.
Liu D et al.
Nature Communications, 2020
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
Saitsu H et al.
Annals of Clinical and Translational Neurology, 2016
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ et al.
Human Mutation, 2013
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C et al.
Human Mutation, 2008
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
Romio L et al.
Journal of the American Society of Nephrology : Jasn, 2003