Sabina Domené
Consejo Nacional de Investigaciones Científicas y Técnicas(AR)Hospital General de Niños Ricardo Gutierrez(AR)
Publications by Year
Research Areas
Growth Hormone and Insulin-like Growth Factors, Digestive system and related health, Immunodeficiency and Autoimmune Disorders, Thyroid Disorders and Treatments, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication(2010)291 cited
- → Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors(2011)123 cited
- → Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function(2009)98 cited
- → Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility(2010)63 cited
- → Mutations in the human SIX3 gene in holoprosencephaly are loss of function(2008)57 cited
- → Two Distinct Compound Heterozygous Constellations (R277X/IVS34–1G>C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis(2004)55 cited