Magitha M. Maheshwar
University Hospital of Wales(GB)
Publications by Year
Research Areas
Tuberous Sclerosis Complex Research, Genetic and Kidney Cyst Diseases, Renal and related cancers, Histiocytic Disorders and Treatments, Genetic Syndromes and Imprinting
Most-Cited Works
- → Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome(1994)509 cited
- → Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene(1997)373 cited
- → The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis(1997)147 cited
- → Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish(1996)69 cited
- → Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse Tissues(1995)67 cited
- → Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.(1996)33 cited
- → Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene(1998)31 cited
- → Gene symbol: PKD1 Disease: Polycystic kidney disease(1998)10 cited