Affiliation: University of Cagliari
- Jagged-1 mutation analysis in Italian Alagille syndrome patientsG Pilia
Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy
Hum Mutat 14:394-400. 1999..Furthermore, our data confirmed the absence of a correlation between the genotype of the JAG1 gene and the AGS phenotype...
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi
Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
Nat Genet 27:159-66. 2001..FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat...
- A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian originG Loudianos
Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
Hum Mutat 1:169-71. 1992
- Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndromeG Pilia
Center for Genetics in Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
Nat Genet 12:241-7. 1996..Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action...
- Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndromeM Pellegrini
Dipartimento di Scienze Morfologiche e Medico Legali, Modena University, Italy
Dev Dyn 213:431-9. 1998..In agreement with predictions, the gene is expressed in precisely the organs that overgrow in its absence; and the patterns of expression of Gpc3 and those reported for Igf2 are strictly correlated...
- Glypican 3 and glypican 4 are juxtaposed in Xq26.1R Huber
Laboratory of Genetics, National Institute on Aging, NIH, Baltimore MD 21224
Gene 225:9-16. 1998..This patient shows a complex phenotype, including the unusual feature of hydrocephalus; but because an uncle with SGBS is less affected, it remains unclear whether the GPC4 deletion itself contributes to the phenotype...