Associated Papers
Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
Kyian T et al.
Genes, 2024
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A et al.
Life (basel, Switzerland), 2024
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE et al.
Human Molecular Genetics, 2022
[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].
Cao P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V et al.
Nefrologia, 2021
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
Shimojima K et al.
Congenital Anomalies, 2013
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
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V et al.
Nefrologia, 0