Associated Papers
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.
Richieri-Costa A 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
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
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.
Ribeiro LA et al.
American Journal of Medical Genetics. Part A, 2005
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