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
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Dubourg C et al.
Human Mutation, 2016
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
Mercier S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
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