Melissa A. Parisi
Division of Genetics and Developmental Medicine
Department of Pediatrics
Children's Hospital and Regional Medical Center
Seattle
USA
Name/email consistency: high
- A Gender Assessment Team: experience with 250 patients over a period of 25 years. Parisi, M.A., Ramsdell, L.A., Burns, M.W., Carr, M.C., Grady, R.E., Gunther, D.F., Kletter, G.B., McCauley, E., Mitchell, M.E., Opheim, K.E., Pihoker, C., Richards, G.E., Soules, M.R., Pagon, R.A. Genet. Med. (2007)
- Joubert syndrome (and related disorders) (OMIM 213300). Parisi, M.A., Doherty, D., Chance, P.F., Glass, I.A. Eur. J. Hum. Genet. (2007)
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Parisi, M.A., Doherty, D., Eckert, M.L., Shaw, D.W., Ozyurek, H., Aysun, S., Giray, O., Al Swaid, A., Al Shahwan, S., Dohayan, N., Bakhsh, E., Indridason, O.S., Dobyns, W.B., Bennett, C.L., Chance, P.F., Glass, I.A. J. Med. Genet. (2006)
- Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. Parisi, M.A., Pinter, J.D., Glass, I.A., Field, K., Maria, B.L., Chance, P.F., Mahurin, R.K., Cramer, S.C. J. Child Neurol. (2004)
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Parisi, M.A., Bennett, C.L., Eckert, M.L., Dobyns, W.B., Gleeson, J.G., Shaw, D.W., McDonald, R., Eddy, A., Chance, P.F., Glass, I.A. Am. J. Hum. Genet. (2004)
- Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Parisi, M.A., Dobyns, W.B. Mol. Genet. Metab. (2003)
- Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?. Parisi, M.A., Kapur, R.P., Neilson, I., Hofstra, R.M., Holloway, L.W., Michaelis, R.C., Leppig, K.A. Am. J. Med. Genet. (2002)