REFERENCES
- Friedman JM. Neurofibromatosis 1. Gene Reviews: www.genetests.org
- Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol 2007;61:189–198.
- Chang BC, Mirabella G, Yagev R, et al. Screening and diagnosis of optic pathway gliomas in children with neurofibromatosis type 1 by using sweep visual evoked potentials. IOVS 2007 June;48(6):2895–2902.
- Opocher E, Kremer LCM, Da Dalt L, et al. Prognostic factors for progression of childhood optic pathway glioma: a systematic review. Eur J Cancer 2006 Aug;42(12):1807–1816.
- Jalili IK, Smith NJD. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet 1988;25:738–740.
- Downey LM, Keen TJ, Jalili IK, et al. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur J Hum Genet 2002 Dec;10(12):865–869.
- Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet 2004;41;468–473.
- Inglehearn CF, El-Sayed W, Shore RC, et al. Jalili syndrome-cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI); six families and consistent linkage to 2q11. ARVO 2008 E-Abstract 457.
- Mighell AJ, El-Sayed W, Shore RC, et al. Amelogenesis imperfecta and central blindness: an inherited syndrome. IADR 86th General Session & Exhibition, 2008. Abstract 1536.
- Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet. 2000 Mar;66(3):790–818.
- Polok B, Escher P, Ambresin A, et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet 2009;84:259–265
- Parry DA, Mighell AJ, El-Sayed W, et al. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 2009;84:266–273.