Claudio Castellan
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Neurological disorders and treatments
Most-Cited Works
- → CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders(2001)321 cited
- → CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia(2004)244 cited
- → Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype(2000)221 cited
- → Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu(2006)201 cited
- → Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene(2002)181 cited
- → Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation(2007)155 cited
- → Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations(2001)126 cited
- → Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps(2002)118 cited
- → Trisomy 2p: Analysis of unusual phenotypic findings(1995)74 cited
- → Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes(1999)73 cited