{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:02:34Z","timestamp":1787752954827,"version":"build-2784847793"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2010,8,13]],"date-time":"2010-08-13T00:00:00Z","timestamp":1281657600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2010,8,13]],"date-time":"2010-08-13T00:00:00Z","timestamp":1281657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1038\/eye.2010.103","type":"journal-article","created":{"date-parts":[[2010,8,13]],"date-time":"2010-08-13T09:44:44Z","timestamp":1281692684000},"page":"1659-1668","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs"],"prefix":"10.1038","volume":"24","author":[{"given":"I K","family":"Jalili","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,8,13]]},"reference":[{"issue":"3","key":"BFeye2010103_CR1","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1080\/13816810701537424","volume":"28","author":"NA Adams","year":"2007","unstructured":"Adams NA, Awadein A, Toma HS . The retinal ciliopathies. Ophthalmic Genet 2007; 28 (3): 113\u2013125.","journal-title":"Ophthalmic Genet"},{"key":"BFeye2010103_CR2","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1146\/annurev.genom.7.080505.115610","volume":"7","author":"JL Badano","year":"2006","unstructured":"Badano JL, Mitsuma N, Beales PL, Katsanis N . The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7: 125\u2013148.","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"5","key":"BFeye2010103_CR3","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1136\/jmg.29.5.289","volume":"29","author":"AT Moore","year":"1992","unstructured":"Moore AT . Cone and cone-rod dystrophies. J Med Genet 1992; 29 (5): 289\u2013290.","journal-title":"J Med Genet"},{"key":"BFeye2010103_CR4","first-page":"357","volume-title":"Genetic Diseases of the Eye","author":"EI Traboulsi","year":"1998","unstructured":"Traboulsi EI . Cone dystrophies. In: Traboulsi EI (ed). Genetic Diseases of the Eye. Oxford University Press: New York, 1998, pp 357\u2013365."},{"key":"BFeye2010103_CR5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/1750-1172-2-7","volume":"2","author":"C Hamel","year":"2007","unstructured":"Hamel C . Cone rod dystrophy. Orphanet J Rare Dis 2007; 2: 7.","journal-title":"Orphanet J Rare Dis"},{"key":"BFeye2010103_CR6","first-page":"421","volume-title":"Krill's Hereditary Retinal and Choroidal Diseases","author":"AE Krill","year":"1977","unstructured":"Krill AE . Cone degenerations. In: Archer D (ed). Krill's Hereditary Retinal and Choroidal Diseases. Harper & Row: Hagerstown, MD, 1977, pp 421\u2013478."},{"key":"BFeye2010103_CR7","first-page":"68","volume-title":"Retinitis Pigmentosa","author":"JR Heckenlively","year":"1998","unstructured":"Heckenlively JR . Clinical findings in retinitis pigmentosa. In: Heckenlively JR (ed). Retinitis Pigmentosa. B Lippincott Company: London, 1998, pp 68\u201389."},{"key":"BFeye2010103_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF02721213","volume":"15","author":"T Leber","year":"1869","unstructured":"Leber T . Ueber retinitis pigmentos and angeborene amaurose. Albrercht von Graeefes Arch Ophthalmol 1869; 15: 1\u201325.","journal-title":"Albrercht von Graeefes Arch Ophthalmol"},{"issue":"4","key":"BFeye2010103_CR9","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.survophthal.2004.04.003","volume":"49","author":"RK Koenekoop","year":"2004","unstructured":"Koenekoop RK . An overview of Leber congenital amaurosis: a model to understand human retinal development. Survery Ophthalmol 2004; 49 (4): 379\u2013398.","journal-title":"Survery Ophthalmol"},{"key":"BFeye2010103_CR10","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1080\/13816810802232768","volume":"29","author":"J Kaplan","year":"2008","unstructured":"Kaplan J . Leber congenital amaurosis: from darkness to spotlight. Ophthalmic Genet 2008; 29: 92\u201398.","journal-title":"Ophthalmic Genet"},{"issue":"8","key":"BFeye2010103_CR11","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1136\/jmg.26.8.504","volume":"26","author":"IK Jalili","year":"1989","unstructured":"Jalili IK . Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. J Med Genet 1989; 26 (8): 504\u2013510.","journal-title":"J Med Genet"},{"issue":"Part 3b","key":"BFeye2010103_CR12","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1038\/eye.1998.147","volume":"12","author":"CF Inglehearn","year":"1998","unstructured":"Inglehearn CF . Molecular genetics of human retinal dystrophies. Eye (Lond) 1998; 12 (Part 3b): 571\u2013579.","journal-title":"Eye (Lond)"},{"issue":"4","key":"BFeye2010103_CR13","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1086\/323613","volume":"69","author":"B Wissinger","year":"2001","unstructured":"Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S et al CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 2001; 69 (4): 722\u2013737.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"BFeye2010103_CR14","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.ajhg.2009.01.009","volume":"84","author":"DA Parry","year":"2009","unstructured":"Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H et al Mutations in CNNM4 cause Jalili syndrome, autosomal recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 2009; 84 (2): 266\u2013273.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"BFeye2010103_CR15","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/j.ajhg.2009.01.006","volume":"84","author":"B Polok","year":"2009","unstructured":"Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I et al Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet 2009; 84 (2): 259\u2013265.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"BFeye2010103_CR16","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1136\/jmg.2004.027821","volume":"42","author":"KW Kjaer","year":"2005","unstructured":"Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S et al Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005; 42 (4): 292\u2013298.","journal-title":"J Med Genet"},{"issue":"2","key":"BFeye2010103_CR17","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1038\/ng716","volume":"29","author":"E Sprecher","year":"2001","unstructured":"Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D et al Hypotrichosis with juvenile macular degeneration caused by mutation in CDH3, encoding P-cadherin. Nat Genet 2001; 29 (2): 134\u2013136.","journal-title":"Nat Genet"},{"issue":"5","key":"BFeye2010103_CR18","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1046\/j.1523-1747.2003.12550_1.x","volume":"121","author":"M Indelman","year":"2003","unstructured":"Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO et al Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 2003; 121 (5): 1217\u20131220.","journal-title":"J Invest Dermatol"},{"issue":"1\u20132","key":"BFeye2010103_CR19","first-page":"83","volume":"11","author":"D Samra","year":"1988","unstructured":"Samra D, Abraham FA, Treister G . Inherited progressive cone-rod dystrophy and alopecia. Metab Pediatr Syst Ophthalmol 1988; 11 (1\u20132): 83\u201385.","journal-title":"Metab Pediatr Syst Ophthalmol"},{"issue":"1","key":"BFeye2010103_CR20","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<42::AID-AJMG8>3.0.CO;2-Z","volume":"61","author":"R Gershoni-Baruch","year":"1996","unstructured":"Gershoni-Baruch R, Leibo R . Aplasia cutis congenital, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder. Am J Med Genet 1996; 61 (1): 42\u201344.","journal-title":"Am J Med Genet"},{"issue":"3","key":"BFeye2010103_CR21","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1002\/ajmg.a.30145","volume":"129","author":"BA Walters","year":"2004","unstructured":"Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD et al Spondylometaphyseal dysplasia with cone rod dystrophy. Am J Med Genet 2004; 129 (3): 265\u2013276.","journal-title":"Am J Med Genet"},{"issue":"124","key":"BFeye2010103_CR22","doi-asserted-by":"publisher","first-page":"3186","DOI":"10.1002\/ajmg.a.32576","volume":"146A","author":"SB Sousa","year":"2008","unstructured":"Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC . Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet 2008; 146A (124): 3186\u20133194.","journal-title":"Am J Med Genet"},{"issue":"4","key":"BFeye2010103_CR23","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1097\/00019605-199610000-00005","volume":"5","author":"MG Ausems","year":"1996","unstructured":"Ausems MG, Wittebol-Post D, Hennekam RC . Cleft lip and cone-rod dystrophy in a consanguineous sibship. Clin Dysmorphol 1996; 5 (4): 307\u2013311.","journal-title":"Clin Dysmorphol"},{"issue":"4","key":"BFeye2010103_CR24","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1076\/1381-6810(200012)2141-HFT243","volume":"21","author":"FM Meire","year":"2000","unstructured":"Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH . Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. Ophthalmic Genet 2000; 21 (4): 243\u2013250.","journal-title":"Ophthalmic Genet"},{"issue":"4","key":"BFeye2010103_CR25","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1136\/jmg.2009.071365","volume":"47","author":"HM Harville","year":"2010","unstructured":"Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA et al Identification of 11 novel mutations in 8 BBS genes by high-resolution homozygosity mapping. J Med Genet 2010; 47 (4): 262\u2013267.","journal-title":"J Med Genet"},{"key":"BFeye2010103_CR26","doi-asserted-by":"publisher","first-page":"1274","DOI":"10.1016\/S0161-6420(98)97033-6","volume":"105","author":"IM Russell-Eggitt","year":"1998","unstructured":"Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF . Alstr\u00f6m syndrome: report of 22 cases and literature review. Ophthalmology 1998; 105: 1274\u20131280.","journal-title":"Ophthalmology"},{"issue":"6","key":"BFeye2010103_CR27","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1006\/exer.2002.1169","volume":"74","author":"TS Aleman","year":"2002","unstructured":"Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG . Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res 2002; 74 (6): 737\u2013745.","journal-title":"Exp Eye Res"},{"issue":"1","key":"BFeye2010103_CR28","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/sj.ejhg.5201108","volume":"12","author":"A Michalik","year":"2004","unstructured":"Michalik A, Martin JJ, Van Broeckhoven C . Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004; 12 (1): 2\u201315.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"BFeye2010103_CR29","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1034\/j.1601-0825.2003.00843.x","volume":"9","author":"MJ Aldred","year":"2003","unstructured":"Aldred MJ, Savarirayan R, Crawford PJM . Amelogenesis imperfecta: a classification and catalogue for the 21st Century. Oral Dis 2003; 9 (1): 19\u201323.","journal-title":"Oral Dis"},{"key":"BFeye2010103_CR30","first-page":"3","volume-title":"Oral Pathology","author":"JV Soames","year":"2005","unstructured":"Soames JV, Southam JC . Disorders of the development of the teeth and craniofacial anomalies. In: Soames JV, Southam JC (eds). Oral Pathology. Oxford University Press: Oxford, 2005, pp 3\u201317."},{"key":"BFeye2010103_CR31","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1750-1172-2-17","volume":"2","author":"PJM Crawford","year":"2007","unstructured":"Crawford PJM, Aldred M, Bloch-Zupan A . Amelogenesis imperfecta. Orphanet J Rare Dis 2007; 2: 17.","journal-title":"Orphanet J Rare Dis"},{"issue":"14","key":"BFeye2010103_CR32","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.1002\/ajmg.a.31316","volume":"140","author":"A M\u00e9garban\u00e9","year":"2006","unstructured":"M\u00e9garban\u00e9 A, Ghanem I, Waked N, Dagher F . A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. Am J Med Genet 2006; 140 (14): 1491\u20131496.","journal-title":"Am J Med Genet"},{"issue":"5","key":"BFeye2010103_CR33","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1111\/j.1651-2227.1977.tb07960.x","volume":"66","author":"CJ Thod\u00e9n","year":"1977","unstructured":"Thod\u00e9n CJ, Ry\u00f6ppy S, Kuitunen P . Oculodentodigital dysplasia syndrome: report of four cases. Acta Paediatr Scand 1977; 66 (5): 635\u2013638.","journal-title":"Acta Paediatr Scand"},{"issue":"4","key":"BFeye2010103_CR34","first-page":"341","volume":"21","author":"M Atasu","year":"1997","unstructured":"Atasu M, Eryilmaz A, Genc A, Ozcan M, Ozbayrak S . Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred. J Clin Pediatr Dent 1997; 21 (4): 341\u2013355.","journal-title":"J Clin Pediatr Dent"},{"issue":"3","key":"BFeye2010103_CR35","first-page":"173","volume":"36","author":"H Chaabouni","year":"1988","unstructured":"Chaabouni H, M'Rad R, Younsi CF, Ferchiou A . Association of Recklinghausen's disease, dental dystrophy and myopia in a Tunisian family. J Genet Hum 1988; 36 (3): 173\u2013176.","journal-title":"J Genet Hum"},{"issue":"7","key":"BFeye2010103_CR36","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1016\/j.ijporl.2005.12.015","volume":"70","author":"UU Inan","year":"2006","unstructured":"Inan UU, Yilmaz MD, Demir Y, Degirmenci B, Ermis SS, Ozturk F . Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. Int J Pediatr Otorhinolaryngol 2006; 70 (7): 1307\u20131314.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"11","key":"BFeye2010103_CR37","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1136\/jmg.25.11.738","volume":"25","author":"IK Jalili","year":"1988","unstructured":"Jalili IK, Smith NJ . A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet 1988; 25 (11): 738\u2013740.","journal-title":"J Med Genet"},{"issue":"12","key":"BFeye2010103_CR38","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1038\/sj.ejhg.5200884","volume":"10","author":"LM Downey","year":"2002","unstructured":"Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP et al Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur J Hum Genet 2002; 10 (12): 865\u2013869.","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"BFeye2010103_CR39","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1136\/jmg.2003.015792","volume":"41","author":"M Michaelides","year":"2004","unstructured":"Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT . An autosomal recessive cone\u2013rod dystrophy associated with amelogenesis imperfecta. J Med Genet 2004; 41 (6): 468\u2013473.","journal-title":"J Med Genet"},{"issue":"8","key":"BFeye2010103_CR40","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1136\/bjo.46.8.449","volume":"46","author":"GB Arden","year":"1962","unstructured":"Arden GB, Barrada A, Kelsey JH . New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol 1962; 46 (8): 449\u2013467.","journal-title":"Br J Ophthalmol"},{"issue":"3","key":"BFeye2010103_CR41","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1007\/BF00200917","volume":"87","author":"RJ Bellamy","year":"1991","unstructured":"Bellamy RJ, Inglehearn CF, Jalili IK, Jeffreys AJ, Bhattacharya SS . Increased band sharing in DNA fingerprints of an inbred human population. Human Genet 1991; 87 (3): 341\u2013347.","journal-title":"Human Genet"},{"issue":"1","key":"BFeye2010103_CR42","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1111\/j.1600-0528.1986.tb01493.x","volume":"14","author":"B B\u00e4ckman","year":"1986","unstructured":"B\u00e4ckman B, Holm AK . Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county. Community Dent Oral Epidemiol 1986; 14 (1): 43\u201347.","journal-title":"Community Dent Oral Epidemiol"},{"key":"BFeye2010103_CR43","first-page":"1","volume":"31","author":"S Sundell","year":"1986","unstructured":"Sundell S . Hereditray amelogenesis imperfecta, genetic and clinical study in a Swedish child population. Swed Dent J suppl 1986; 31: 1\u201338.","journal-title":"Swed Dent J suppl"},{"issue":"4","key":"BFeye2010103_CR44","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1159\/000307127","volume":"169","author":"A Fran\u00e7ois","year":"1974","unstructured":"Fran\u00e7ois A, De Rouck A, Verriest G, De Laey JJ, Cambie E . Progressive generalized cone dysfunction. Ophthalmologica 1974; 169 (4): 255\u2013284.","journal-title":"Ophthalmologica"},{"issue":"7","key":"BFeye2010103_CR45","first-page":"328","volume":"78","author":"MM Schornack","year":"2007","unstructured":"Schornack MM, Brown WL, Siemsen DW . The use of tinted contact lenses in the management of achromatopsia. Optometry 2007; 78 (7): 328.","journal-title":"Optometry"},{"issue":"Pt 2","key":"BFeye2010103_CR46","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/eye.1998.61","volume":"12","author":"M Iqbal","year":"1998","unstructured":"Iqbal M, Jalili IK . Congenital onset central chorioretinal dystrophy associated with high myopia. Eye (Lond) 1998; 12 (Pt 2): 260\u2013265.","journal-title":"Eye (Lond)"},{"issue":"3","key":"BFeye2010103_CR47","first-page":"148","volume":"19","author":"AR Cartwright","year":"1999","unstructured":"Cartwright AR, Kula K, Wright TJ . Craniofacial features associated with amelogenesis imperfecta. J Craniofac Genet Dev Biol 1999; 19 (3): 148\u2013156.","journal-title":"J Craniofac Genet Dev Biol"},{"issue":"3","key":"BFeye2010103_CR48","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/0002-9416(82)90055-0","volume":"81","author":"R Rowley","year":"1982","unstructured":"Rowley R, Hill FJ, Winter GB . An investigation of the association between anterior open-bite and amelogenesis imperfect. Am J Orthod 1982; 81 (3): 229\u2013235.","journal-title":"Am J Orthod"},{"issue":"22","key":"BFeye2010103_CR49","doi-asserted-by":"publisher","first-page":"2881","DOI":"10.1093\/hmg\/ddg326","volume":"12","author":"I Chowers","year":"2003","unstructured":"Chowers I, Liu D, Farkas RH, Gunatilaka TL, Hackam AS, Bernstein SL et al Gene expression variation in the adult human retina. Hum Mol Genet 2003; 12 (22): 2881\u20132893.","journal-title":"Hum Mol Genet"},{"issue":"5566","key":"BFeye2010103_CR50","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1126\/science.1068996","volume":"296","author":"W Enard","year":"2002","unstructured":"Enard W, Khaitovich P, Klose J, Z\u00f6llner S, Heissig F, Giavalisco P et al Intra- and interspecific variation in primate gene expression patterns. Science 2002; 296 (5566): 340\u2013343.","journal-title":"Science"},{"issue":"6","key":"BFeye2010103_CR51","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/ng.366","volume":"41","author":"H Khanna","year":"2009","unstructured":"Khanna H, Davis EE, Murga-Zamalloa CA, Estrada A, Lopez I, den Hollander AI et al A common allele in RPGRIP1L is a modifier of retinal degeneration. Nat Genet 2009; 41 (6): 739\u2013745.","journal-title":"Nat Genet"},{"issue":"1","key":"BFeye2010103_CR52","doi-asserted-by":"publisher","first-page":"23","DOI":"10.2166\/wh.2004.0003","volume":"2","author":"B Shomar","year":"2004","unstructured":"Shomar B, M\u00fcller G, Yahya A, Askar S, Sansur R . Fluorides in groundwater, soil and infused black tea and the occurrence of dental fluorosis among school children of the Gaza strip. J Water Health 2004; 2 (1): 23\u201335.","journal-title":"J Water Health"},{"issue":"2","key":"BFeye2010103_CR53","first-page":"331","volume":"28","author":"K Shailaja","year":"2007","unstructured":"Shailaja K, Johnson ME . Fluorides in groundwater and its impact on health. J Environ Biol 2007; 28 (2): 331\u2013332.","journal-title":"J Environ Biol"},{"issue":"4","key":"BFeye2010103_CR54","doi-asserted-by":"publisher","first-page":"533","DOI":"10.2166\/wh.2006.0036","volume":"4","author":"L Fewtrell","year":"2006","unstructured":"Fewtrell L, Smith S, Kay D, Bartram J . An attempt to estimate the global burden of disease due to fluoride in drinking water. J Water Health 2006; 4 (4): 533\u2013542.","journal-title":"J Water Health"},{"key":"BFeye2010103_CR55","first-page":"74","volume":"33","author":"Y Lu","year":"2000","unstructured":"Lu Y, Sun ZR, Wu LN, Wang X, Lu W, Liub SS . Effects of high-fluoride water on intelligence in children. Fluoride 2000; 33: 74\u201378.","journal-title":"Fluoride"},{"issue":"2","key":"BFeye2010103_CR56","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1002\/em.2850150203","volume":"15","author":"CL Crespi","year":"1990","unstructured":"Crespi CL, Seixas GM, Turner T, Penman BW . Sodium fluoride is a less efficient human cell mutagen at low concentrations. Mol Mutagen 1990; 15 (2): 71\u201377.","journal-title":"Mol Mutagen"},{"issue":"10","key":"BFeye2010103_CR57","doi-asserted-by":"publisher","first-page":"3483","DOI":"10.1021\/es087106v","volume":"42","author":"M Amini","year":"2008","unstructured":"Amini M, Mueller K, Abbaspour K, Rosenberg T, Afyuni M, M\u00f8ller K et al Statistical modeling of global geogenic fluoride contamination in groundwaters. Environ Sci Technol 2008; 42 (10): 3483\u20133484.","journal-title":"Environ Sci Technol"},{"key":"BFeye2010103_CR58","first-page":"0009","volume":"87B","author":"DV Dawson","year":"2008","unstructured":"Dawson DV, Xiao X, Levy SM, Santiago-Parton S, Warren JJ, Broffitt B et al Candidate gene associations with fluorosis in the early permanent dentition. J Dent Res 2008; 87B: 0009. (\n                    www.dentalresearch.org\n                    \n                  ).","journal-title":"J Dent Res"},{"issue":"3","key":"BFeye2010103_CR59","first-page":"171","volume":"39","author":"SL Choubisa","year":"2007","unstructured":"Choubisa SL, Choubisa L, Sompura K, Choubisa D . Fluorosis in subjects belonging to different ethnic groups of Rajasthan, India. J Commun Dis 2007; 39 (3): 171\u2013177.","journal-title":"J Commun Dis"},{"issue":"9","key":"BFeye2010103_CR60","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1136\/bjo.70.9.696","volume":"70","author":"SG Green","year":"1986","unstructured":"Green SG, Bear JC, Johnson GJ . The burden of genetically determined eye disease. Br J Ophthalmol 1986; 70 (9): 696\u2013699.","journal-title":"Br J Ophthalmol"}],"updated-by":[{"DOI":"10.1038\/eye.2010.144","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2010,11,11]],"date-time":"2010-11-11T00:00:00Z","timestamp":1289433600000}}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye2010103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2010103","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2010103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:10:41Z","timestamp":1684429841000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye2010103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,13]]},"references-count":60,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["BFeye2010103"],"URL":"https:\/\/doi.org\/10.1038\/eye.2010.103","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/eye.2010.144","asserted-by":"object"}]},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,13]]},"assertion":[{"value":"15 February 2010","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2010","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2010","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 August 2010","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The author declares no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}