Isabelle Olivos‐Glander
Publications by Year
Research Areas
Cellular transport and secretion, Cancer and Skin Lesions, Hedgehog Signaling Pathway Studies, Lysosomal Storage Disorders Research, Connexins and lens biology
Most-Cited Works
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection(1999)236 cited
- → Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus(1995)142 cited
- The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.(1995)
- → Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells(2000)102 cited
- → Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome(2003)56 cited
- → 704: Prenatal testing for Noonan spectrum disorders using a multi-gene sequencing panel in fetuses with abnormal ultrasound findings(2011)
- → Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V(2002)
- Immunological identification, localization and characterization of the Lowe syndrome (OCRL) protein(1996)