[1] |
Greene VB, Stoetzel C, Pelletier V, et al. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis[J]. Ophthalmic Genet, 2010,31(1): 47-51.
|
[2] |
Sadiq MA, Vanderveen D. Genetics of ectopia lentis[J]. Semin Ophthalmol, 2013,28(5-6): 313-320.
|
[3] |
Sakai LY, Keene DR, Renard M, et al. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders[J]. Gene, 2016,591(1): 279-291.
|
[4] |
Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study[J]. Am J Hum Genet, 2007,81(3): 454-466.
|
[5] |
Lönnqvist L, Child A, Kainulainen K, et al. A novel mutation of the fibrillin gene causing ectopia lentis[J]. Genomics, 1994,19(3): 573-576.
|
[6] |
Aragon-Martin JA, Ahnood D, Charteris DG, et al. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients[J]. Hum Mutat, 2010, 31(8): E1622-1631.
|
[7] |
中国眼遗传病诊疗小组,中国眼科遗传联盟. 眼遗传病基因诊断方法专家共识[J]. 中华实验眼科杂志,2018,36(7): 481-488.
|
[8] |
Shendure J, Porreca GJ, Reppas NB, et al. Accurate multiplex polony sequencing of an evolved bacterial genome[J]. Science, 2005, 309(5741): 1728-1732.
|
[9] |
McLean JS, Lasken RS. Single cell genomics of bacterial pathogens: outlook for infectious disease research[J]. Genome Med, 2014,6(11): 108.
|
[10] |
Heather JM, Chain B. The sequence of sequencers: The history of sequencing DNA[J]. Genomics, 2016, 107(1): 1-8.
|
[11] |
Adams DR, Eng CM. Next-generation sequencing to diagnose suspected genetic disorders[J]. N Engl J Med, 2018, 379(14): 1353-1362.
|
[12] |
Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic[J]. Nat Rev Genet, 2013,14(4): 295-300.
|
[13] |
Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications[J]. Genet Med, 2016,18(7): 696-704.
|
[14] |
Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions[J]. JAMA Pediatr, 2017,171(9): 855-862.
|
[15] |
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J]. N Engl J Med, 2013,369(16): 1502-1511.
|
[16] |
Neuhann TM, Stegerer A, Riess A, et al. ADAMTSL4-associated isolated ectopia lentis: further patients, novel mutations and a detailed phenotype description[J]. Am J Med Genet A, 2015,167A(10): 2376-2381.
|
[17] |
Chandra A, Aragon-Martin JA, Hughes K, et al. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis[J]. Invest Ophthalmol Vis Sci, 2012,53(8): 4889-4896.
|
[18] |
Jaureguy BM, Hall JG. Isolated congenital ectopia lentis with autosomal dominant inheritance[J]. Clin Genet, 1979,15(1): 97-109.
|
[19] |
Edwards MJ, Challinor CJ, Colley PW, et al. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1[J]. Am J Med Genet, 1994,53(1): 65-71.
|
[20] |
Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey[J]. Acta Ophthalmol Scand, 1998,76(1): 20-26.
|
[21] |
Li J, Jia X, Li S, et al. Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis[J]. Mol Vis, 2014,20: 1017-1024.
|
[22] |
Traboulsi EI, Whittum-Hudson JA, Mir SH, et al. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis[J]. Ophthalmic Genet, 2000, 21(1): 9-15.
|
[23] |
Nelson L. Ectopia lentis in childhood[J]. J Pediatr Ophthalmol Strabismus, 2008,45(1): 12.
|
[24] |
Neuhann TM. Hereditary ectopia lentis[J]. Klin Monbl Augenheilkd, 2015,232(3): 259-265.
|
[25] |
Neely DE, Plager DA. Management of ectopia lentis in children[J]. Ophthalmol Clin North Am, 2001,14(3): 493-499.
|
[26] |
Lam DS, Young AL, Leung AT, et al. Scleral fixation of a capsular tension ring for severe ectopia lentis[J]. J Cataract Refract Surg, 2000,26(4): 609-612.
|
[27] |
Wagoner MD, Cox TA, Ariyasu RG, et al. Intraocular lens implantation in the absence of capsular support: a report by the American Academy of Ophthalmology[J]. Ophthalmology, 2003,110(4): 840-859.
|
[28] |
Johnston RL, Charteris DG, Horgan SE, et al. Combined pars plana vitrectomy and sutured posterior chamber implant[J]. Arch Ophthalmol, 2000,118(7): 905-910.
|
[29] |
Yang YF, Bunce C, Dart JK, et al. Scleral-fixated posterior chamber intraocular lenses in non-vitrectomized eyes[J]. Eye (Lond), 2006,20(1): 64-70.
|
[30] |
Cleary C, Lanigan B, O′Keeffe M. Artisan iris-claw lenses for the correction of aphakia in children following lensectomy for ectopia lentis[J]. Br J Ophthalmol, 2012,96(3): 419-421.
|
[31] |
Hsing YE, Lee GA. Retropupillary iris claw intraocular lens for aphakia[J]. Aus N Zeal J Ophthalmol, 2012,40(9): 849-854.
|
[32] |
夏文佼,巩雪,肖伟. 先天性晶状体脱位致病基因研究进展[J]. 国际眼科杂志,2016,16(4): 651-653.
|
[33] |
Biggin A, Holman K, Brett M, et al. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy[J]. Hum Mutat, 2004,23(1): 99.
|
[34] |
Cain SA, Morgan A, Sherratt MJ, et al. Proteomic analysis of fibrillin-rich microfibrils[J]. Proteomics, 2006,6(1): 111-122.
|
[35] |
Mir S, Wheatley HM, Hussels IE, et al. A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome[J]. Invest Ophthalmol Vis Sci, 1998,39(1): 84-93.
|
[36] |
Milewicz DM, Urbán Z, Boyd C. Genetic disorders of the elastic fiber system[J]. Matrix Biol, 2000,19(6): 471-480.
|
[37] |
Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene[J]. Nature, 1991,352(6333): 337-339.
|
[38] |
Cañadas V, Vilacosta I, Bruna I, et al. Marfan syndrome. Part 1: pathophysiology and diagnosis[J]. Nat Rev Cardiol, 2010, 7(5): 256-265.
|
[39] |
Schrijver I, Liu W, Brenn T, et al. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes[J]. Am J Hum Genet, 1999,65(4): 1007-1020.
|
[40] |
Zadeh N, Bernstein JA, Niemi AK, et al. Ectopia lentis as the presenting and primary feature in Marfan syndrome[J]. Am J Med Genet A, 2011,155A(11): 2661-2668.
|
[41] |
Arbustini E, Grasso M, Ansaldi S, et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies[J]. Hum Mutat, 2005, 26(5): 494.
|
[42] |
Adès LC, Holman KJ, Brett MS, et al. Ectopia lentis phenotypes and the FBN1 gene[J]. Am J Med Genet A, 2004,126A(3): 284-289.
|
[43] |
Comeglio P, Johnson P, Arno G, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations[J]. Hum Mutat, 2007,28(9): 928.
|
[44] |
Collod-Béroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database[J]. Hum Mutat, 2003,22(3): 199-208.
|
[45] |
Boileau C. The FBN1 gene mutations database[EB/OL] (2019-03-20)[2019-07-13]
URL
|