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11175294,12203992,10756346,8882780,12203987,16220557,9401003,18471089,18435798,16222657,8136837,11700157,10189088,19117906,24199744,11754102,21211293,11391655,15241795,18412115,11780406,12413333,11933199,19161152,14695540,24504995,10464652,23592911,7870075,11748851,21936929,11139245,23684891,10633129,18377451,7738200,10721679,1301946,11098545,8863159,21840105,10486319,24610719,12402346,8180508,10694921,17568394,20455198,17189636,9236141,9714438,18377530,11453977,27138491,15583982,16061422,8541880,19059503,23897642,18379569,9338581,10189222,9101298,17701892,9016526,10441700,8880577,26684006,16617303,25652400,22736615,12161601,9837823,9452085,17657824,8004112,21034599,19002209,25729264,22876116,9254848,19941982,17718856,26875674,10797416,22262941,19573590,12723256,15598221,11524736,16971892,11826022,21932315,16930007,16251899,20132243,9587455,15054843,7633409,22259224,11059536,24668922,19159394,8406497,11992479,8281141,22406088,33739008,24039054,21135753,35793259,25370960,10090884,17680538,12938084,15032979,16342915,11251996,17679947,17627385,18795226,11170092,19533785,24161884,8594563,16222666,34550612,19725129,20478419,20538085,26796135,12068374,21683322,8188302,10441597,17663468,32198975,7915876,8884270,8894692,18388785,21976953,31163209,8044654,19353630,17492313,28842177,15666366,10425041,21518605,15287423,10686496,15861007,19863550,12915484,21152435,17253931,15161620,15895810,15221638,22005308,8040326,35831148,31055806,12446365,20662850,15770129,23444230,27234404,19839986,25966184,8941093,15590086,24349050,20937124,17209430,19996017,10364683,24613577,30286810,30048161,20564469,24484584,23278365,25613431,27558095,18349881,11706995,25656438,8101042,30838813,16835936,22219643,25652356,25736269,11883832,24698609,31471346,18767143,24940037,27906200,18049824,31703137,24078565,25101912,29939511,34628919,25900864,36307213,21726527,17418587,27437668,12130535,21789464,30485715,11810645,22942097,7622614,9399842,18310266,18087243,12404097,20979188,8750301,19390640,25636182,18380029,33200202,17366579,19328768,11285249,33578525,9452033,31279664,11702223,15264290,10647894,12043305,12700307,20021881,23794388,15254580,34281902,28098115,35058154,12598898,17224687,14586646,19309803,22221020,17345643,7632217,16273535,7977366,10189089,10874320,17652900,26410935,33059708,23930893,21594993,10090557,23978319,36096698,27582083,10679954,19089573,31730815,18386335,17598213,32443863,36058493,20085885,24740214,20709720,12579488,9150726,18079676,20803651,28442527,36292727,33731877,11143906,16905551,28985825,16775108,1631074,7873879,33483584,19554831,33988295,35612688,7611299,29896744,36004597,32431097,26631233,32562828,24665001,21194821,12525539,25986263,10740005,33030311,8116614,28383843,29732924,23141514,17024364,16752434,20886638,20012798,28941062,21594992,19006240,33174221,31950671,31098894,20372188,28636274,27175573,19336958,9115627,28321935,22301820,21742617,32210272,23176764,20551991,33436942,32679894,27386756,22178754,26503076,31527767,23653584,24928929,29357934,17996480,22950452,8317497,9239687,11880731,8430317,27099264,8504310,26471116,27914124,27615407,19726741,20144538,35533973,27724990,35420547,7712119,28596305,35894201,11208245,11710961,24090671,30087447,16325700,34828442,21909107,24568996,10739800,26927851,18615205,17355504,26787436,17327991,18354149,27085269,17487218,26860060,29666143,34916231,28696036,19361604,31185693,31506931,29845260,18805282,23991918,22984535,1639186,37038253,9586150,29848614,12146542,23121584,26391944,10589339,25975422,12174645,36176293,28117189,28650953,25142510,19958417,15983637,17985054,29191498,19879959,26903455,2180284,28823387,31131229,20375002,25337071,35419902,9791860,34087733,22942299,31238364,32514132,36708686,8958994,28331219,25863106,34059089,33414558,26221284,28759179,29079640,26526396,27037046,10404462,29875124,15992100,27022329,26223180,9586152,2004786,34526162,33565072,22545955,26770496,8900230,8100467,31061752,23493941,2316516,6748012,19879983,11032010,26558191,18582676,16803443,28588436,1924022,30354332,22639450,21907952,19106173,32557139,28277377,27160103,35296718,30134586,15523638,17277858,32939518,31879971,36945115,30479897,23103230,31053350,34795948,20093880,29270372,33082559,1882844,2180285,24736733,10549780,27704402,8880576,18494227,22960978,29875127,592353,1674682,27625872,3479900,23830514,32950946,31656420,31977115,29848616,12575662,9326982,32884772,1613770,3297504,29392152,33256748,3011649,25901038,35707591,36938616,1881650,23483062,27814256,34527904,2141923,27493359,24296667,28050602,9746866,8120241,28050285,20711146,8151638,2245279,27662508,31053375,28168077,23304566,29876033,26927512,27508231,16222685,8559106,5072691,34140104,4647446,949864,19949477,31434442,21242988,36262952,29142803,23549323,34584630,28878896,5224252,18578077,27013137,26155594,37058316,37060285,29087529,21836810,25133112,35039531[uid]

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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Tiecke F, et al. Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. Eur J Hum Genet. 2001. PMID: 11175294

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. Katzke S, et al. Hum Mutat. 2002 Sep;20(3):197-208. doi: 10.1002/humu.10112. Hum Mutat. 2002. PMID: 12203992

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. Palz M, et al. Am J Med Genet. 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10756346

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Putnam EA, et al. Am J Med Genet. 1996 Mar 29;62(3):233-42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882780

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Robinson PN, et al. Hum Mutat. 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. Hum Mutat. 2002. PMID: 12203987 Review.

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M. Rommel K, et al. Hum Mutat. 2005 Dec;26(6):529-39. doi: 10.1002/humu.20239. Hum Mutat. 2005. PMID: 16220557

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C, Brock DJ. Hayward C, et al. Hum Mutat. 1997;10(6):415-23. doi: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9401003 Review.

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.

Li D, Yu J, Gu F, Pang X, Ma X, Li R, Liu N, Ma X. Li D, et al. Genet Test. 2008 Jun;12(2):325-30. doi: 10.1089/gte.2008.0002. Genet Test. 2008. PMID: 18471089

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, Fattori R, Anichini C, Abbate R, Gensini G, Pepe G. Attanasio M, et al. Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x. Epub 2008 Apr 22. Clin Genet. 2008. PMID: 18435798

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657

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