Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population.
Lesiak A et al.
Archives of Dermatological Research, 2016
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome.
Babu TA et al.
Indian Journal of Human Genetics, 2012
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.
Szakszon K et al.
European Journal of Medical Genetics, 2012
Noggin null allele mice exhibit a microform of holoprosencephaly.
Lana-Elola E et al.
Human Molecular Genetics, 2011
[Two cases of solitary median maxillary central incisor syndrome].
Catania P et al.
Minerva Pediatrica, 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
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.
Singh S et al.
Human Genetics, 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
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.
Horn D et al.
American Journal of Medical Genetics. Part A, 2004
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
Hehr U et al.
European Journal of Pediatrics, 2004
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2004
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
Nanni L et al.
American Journal of Medical Genetics, 2001
Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report.
Viana Eda S et al.
Pediatric Dentistry, 0
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.
Holla G et al.
General Dentistry, 0