References
- Criswick VG, Schepens CL. Familial exudative vitreo-retinopathy. Am J Ophthalmol 1969;68:578–594
- Nishimura M, Yamana T, Sugino M, et al. Falciform retinal folds as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol 1983;27:40–53
- Warburg M. Norrie’s disease. Birth Defects Orig Artic Ser 1971;7:117–124
- Zhang J, Fuhrmann S, Vetter ML. A nonautonomous role for retinal Frizzled-5 in regulating hyaloid vitreous vasculature development. Invest Ophthalmol Vis Sci 2008;49:5561–5567
- Ceron O, Lou PL, Kroll AJ, Walton DS. The vitreo-retinal manifestations of persistent hyperplastic primary vitreous and their management. Int Ophthalmol Clin 2008;48:53–62
- Li Y, Muller B, Fuhrmann C, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992;51:749–754
- Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002;32:326–330
- Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010;86:240–247
- Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet 2010;86:248–253
- Junge HJ, Yang S, Burton JS, et al. TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/β-catenin signaling. Cell 2009;139:299–311
- Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993;5:180–183
- Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 2004;75:878–884
- Poulter JA, Davidson AE, Ali M, et al. Recessive mutation in TSPAN12 causes retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci 2012;53:2873–2879
- Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Sem in Ophthalmol 2007;22:211–217
- Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 2009;52:88–93
- Courtens W, Schramme I, Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families. Am J Med Genet A 2008;146:758–763
- Portnoi MF, Lebas F, Gruchy N, et al. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndrome. Am J Med Genet A 2005;137:47–51
- Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003;73:1027–1040
- Yobb TM, Somerville MJ, Willatt L, et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005;76:865–876
- Alberti A, Romano C, Falco M, et al. 1.5Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 2007;71:177–182
- Blennow E, Lagerstedt K, Malmgren H, et al. Concurrent microdeletion and duplication of 22q11.2. ClinGenet 2008;74:61–67
- Gilmour DF, Downey LM, Sheridan E, et al. Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2. Ophthalmology 2009;116:1522–1524
- Den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989;45:835–847
- Sparkes R, Chernos J, Dicke F. Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiol Young 2005;15:229–231
- Forbes BJ, Binenbaum G, Edmond JC, et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS 2007;11:179–182
- Casteels I, Casaer P, Gewillig M, et al. Ocular findings in children with a microdeletion in chromosome 22q11.2. Eur J Pediatr 2008;167:751–755
- Yagi H, Furotani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003;362:1366–1373
- Stalmans I, Lambrechts D, De Smet F, et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome. Nat Med 2003;9:173–182