Associated Papers
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
de la Fuente L et al.
International Journal of Molecular Sciences, 2023
Genetic investigation of syndromic forms of obesity.
Carvalho LML et al.
International Journal of Obesity (2005), 2022
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J et al.
Eclinicalmedicine, 2022
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Ishida M et al.
Clinical Genetics, 2018
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 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
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Paulo SS et al.
Clinical Endocrinology, 2015
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
Gorbenko del Blanco D et al.
Clinical Endocrinology, 2013
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Bakrania P 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: 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
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Odent S et al.
Human Molecular Genetics, 1999
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Roessler E et al.
Human Molecular Genetics, 1997