Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hong S et al.
Human Mutation, 2020
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
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
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
Wannasilp N et al.
American Journal of Medical Genetics. Part A, 2011
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA et al.
Molecular Syndromology, 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
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Slavotinek A et al.
Human Molecular Genetics, 2003
Select a paper to view details