Associated Papers
Gas1 Regulates Patterning of the Murine and Human Dentitions through Sonic Hedgehog.
Seppala M et al.
Journal of Dental Research, 2022
34796774 (PubMed )
Supplement: sj-pdf-1-jdr-10.1177_00220345211049403.pdf
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF et al.
Molecular Syndromology, 2021
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.
Kruszka P et al.
The Journal of Craniofacial Surgery, 2015
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Pineda-Alvarez DE et al.
Human Genetics, 2012
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
Ribeiro LA et al.
American Journal of Medical Genetics. Part A, 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-like phenotype: clinical and genetic perspectives.
Richieri-Costa A et al.
American Journal of Medical Genetics. Part A, 2006
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
Santiago G et al.
American Journal of Medical Genetics. Part A, 2006
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