Associated Papers
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Guyodo H et al.
Clinical and Experimental Dental Research, 2024
38558491 (PubMed )
Supplement: CRE2-10-e861-s001.pdf
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hong S et al.
Human Mutation, 2020
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.
Tekendo-Ngongang C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype-phenotype correlations.
Gekas J et al.
Journal of Prenatal Medicine, 2012
Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
Bertolacini CD et al.
Brain & Development, 2010
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
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
Maity T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Lazaro L et al.
American Journal of Medical Genetics. Part A, 2004
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Nanni L et al.
Human Molecular Genetics, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Odent S et al.
Human Molecular Genetics, 1999
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