Associated Papers
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.
Perera-Bel J et al.
Genome Medicine, 2018
29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-07
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly.
Aguinaga M et al.
Case Reports in Genetics, 2011
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E et al.
Human Mutation, 2009
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK
Orphanet Journal of Rare Diseases, 2006
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.
Marini M et al.
American Journal of Medical Genetics. Part A, 2003
Select a paper to view details