"Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome."
Pereira L.V. , D'Alessio M. , Ramirez F. , Lynch J.R. , Sykes B. , Pangilinan T. , Bonadio J.
Hum. Mol. Genet.2:961-968(1993) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients."
Uyeda T. , Takahashi T. , Eto S. , Sato T. , Xu G. , Kanezaki R. , Toki T. , Yonesaka S. , Ito E.
J. Hum. Genet.49:404-407(2004) [PubMed] [Europe PMC] [Abstract]

Rieder M.J. , Bertucci C. , Stanaway I.B. , Johnson E.J. , Swanson J.E. , Siegel D.L. , da Ponte S.H. , Igartua C. , Patterson K. , Nickerson D.A.
Submitted (2009-09) to the EMBL/GenBank/DDBJ databases

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C. , Garber M. , Sharpe T. , Young S.K. , Rowen L. , O'Neill K. , Whittaker C.A. , Kamal M. , Chang J.L. , Cuomo C.A. , Dewar K. , FitzGerald M.G. , Kodira C.D. , Madan A. , Qin S. , Yang X. , Abbasi N. , Abouelleil A. , Arachchi H.M. , Baradarani L. , Birditt B. , Bloom S. , Bloom T. , Borowsky M.L. , Burke J. , Butler J. , Cook A. , DeArellano K. , DeCaprio D. , Dorris L. III , Dors M. , Eichler E.E. , Engels R. , Fahey J. , Fleetwood P. , Friedman C. , Gearin G. , Hall J.L. , Hensley G. , Johnson E. , Jones C. , Kamat A. , Kaur A. , Locke D.P. , Madan A. , Munson G. , Jaffe D.B. , Lui A. , Macdonald P. , Mauceli E. , Naylor J.W. , Nesbitt R. , Nicol R. , O'Leary S.B. , Ratcliffe A. , Rounsley S. , She X. , Sneddon K.M.B. , Stewart S. , Sougnez C. , Stone S.M. , Topham K. , Vincent D. , Wang S. , Zimmer A.R. , Birren B.W. , Hood L. , Lander E.S. , Nusbaum C. more...
Nature440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end."
Corson G.M. , Chalberg S.C. , Dietz H.C. , Charbonneau N.L. , Sakai L.Y.
Genomics17:476-484(1993) [PubMed] [Europe PMC] [Abstract]

"Partial sequence of a candidate gene for the Marfan syndrome."
Maslen C.L. , Corson G.M. , Maddox B.K. , Glanville R.W. , Sakai L.Y.
Nature352:334-337(1991) [PubMed] [Europe PMC] [Abstract]

"Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes."
Lee B. , Godfrey M. , Vitale E. , Hori H. , Mattei M.-G. , Sarfarazi M. , Tsipouras P. , Ramirez F. , Hollister D.W.
Nature352:330-334(1991) [PubMed] [Europe PMC] [Abstract]

"The skipping of constitutive exons in vivo induced by nonsense mutations."
Dietz H.C. , Valle D. , Francomano C.A. , Kendzior R.J. Jr. , Pyeritz R.E. , Cutting G.R.
Science259:680-683(1993) [PubMed] [Europe PMC] [Abstract]

"Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils."
Sakai L.Y. , Keene D.R. , Glanville R.W. , Bachinger H.P.
J. Biol. Chem.266:14763-14770(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular structure and interaction of recombinant human type XVI collagen."
Kassner A. , Tiedemann K. , Notbohm H. , Ludwig T. , Morgelin M. , Reinhardt D.P. , Chu M.-L. , Bruckner P. , Grassel S.
J. Mol. Biol.339:835-853(2004) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts."
Kutz W.E. , Wang L.W. , Bader H.L. , Majors A.K. , Iwata K. , Traboulsi E.I. , Sakai L.Y. , Keene D.R. , Apte S.S.
J. Biol. Chem.286:17156-17167(2011) [PubMed] [Europe PMC] [Abstract]

"ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds Fibrillin-1 microfibrils and accelerates microfibril biogenesis."
Gabriel L.A. , Wang L.W. , Bader H. , Ho J.C. , Majors A.K. , Hollyfield J.G. , Traboulsi E.I. , Apte S.S.
Invest. Ophthalmol. Vis. Sci.53:461-469(2012) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils."
Yuan X. , Downing A.K. , Knott V. , Handford P.A.
EMBO J.16:6659-6666(1997) [PubMed] [Europe PMC] [Abstract]

"Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1."
Knott V. , Downing A.K. , Cardy C.M. , Handford P.A.
J. Mol. Biol.255:22-27(1996) [PubMed] [Europe PMC] [Abstract]

"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders."
Downing A.K. , Knott V. , Werner J.M. , Cardy C.M. , Campbell I.D. , Handford P.A.
Cell85:597-605(1996) [PubMed] [Europe PMC] [Abstract]

"Software and database for the analysis of mutations in the human FBN1 gene."
Collod G. , Beroud C. , Soussi T. , Junien C. , Boileau C.
Nucleic Acids Res.24:137-141(1996) [PubMed] [Europe PMC] [Abstract]

"Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene."
Collod-Beroud G. , Beroud C. , Ades L. , Black C. , Boxer M. , Brock D.J. , Godfrey M. , Hayward C. , Karttunen L. , Milewicz D. , Peltonen L. , Richards R.I. , Wang W. , Junien C. , Boileau C.
Nucleic Acids Res.25:147-150(1997) [PubMed] [Europe PMC] [Abstract]

"Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies."
Hayward C. , Brock D.J.H.
Hum. Mutat.10:415-423(1997) [PubMed] [Europe PMC] [Abstract]

"The molecular genetics of Marfan syndrome and related microfibrillopathies."
Robinson P.N. , Godfrey M.
J. Med. Genet.37:9-25(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies."
Robinson P.N. , Booms P. , Katzke S. , Ladewig M. , Neumann L. , Palz M. , Pregla R. , Tiecke F. , Rosenberg T.
Hum. Mutat.20:153-161(2002) [PubMed] [Europe PMC] [Abstract]

"Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum."
Glesby M.J. , Pyeritz R.E.
JAMA262:523-528(1989) [PubMed] [Europe PMC] [Abstract]

"Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization."
Lee S.S. , Knott V. , Jovanovic J. , Harlos K. , Grimes J.M. , Choulier L. , Mardon H.J. , Stuart D.I. , Handford P.A.
Structure12:717-729(2004) [PubMed] [Europe PMC] [Abstract]

"Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins."
Jensen S.A. , Iqbal S. , Lowe E.D. , Redfield C. , Handford P.A.
Structure17:759-768(2009) [PubMed] [Europe PMC] [Abstract]

"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene."
Dietz H.C. , Cutting G.R. , Pyeritz R.E. , Maslen C.L. , Sakai L.Y. , Corson G.M. , Puffenberger E.G. , Hamosh A. , Nanthakumar E.J. , Curristin S.M. , Stetten G. , Meyers D.A. , Francomano C.A.
Nature352:337-339(1991) [PubMed] [Europe PMC] [Abstract]

"Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains."
Dietz H.C. , Saraiva J.M. , Pyeritz R.E. , Cutting G.R. , Francomano C.A.
Hum. Mutat.1:366-374(1992) [PubMed] [Europe PMC] [Abstract]

"Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene."
Dietz H.C. , Pyeritz R.E. , Puffenberger E.G. , Kendzior R.J. Jr. , Corson G.M. , Maslen C.L. , Sakai L.Y. , Francomano C.A. , Cutting G.R.
J. Clin. Invest.89:1674-1680(1992) [PubMed] [Europe PMC] [Abstract]

"Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome."
Dietz H.C. , McIntosh I. , Sakai L.Y. , Corson G.M. , Chalberg S.C. , Pyeritz R.E. , Francomano C.A.
Genomics17:468-475(1993) [PubMed] [Europe PMC] [Abstract]

"A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module."
Hewett D.R. , Lynch J.R. , Smith R. , Sykes B.C.
Hum. Mol. Genet.2:475-477(1993) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains."
Tynan K. , Comeau K. , Pearson M. , Wilgenbus P. , Levitt D. , Gasner C. , Berg M.A. , Miller D.C. , Francke U.
Hum. Mol. Genet.2:1813-1821(1993) [PubMed] [Europe PMC] [Abstract]

"A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype."
Karttunen L. , Raghunath M. , Loennqvist L. , Peltonen L.
Am. J. Hum. Genet.55:1083-1091(1994) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of the fibrillin gene causing ectopia lentis."
Lonnqvist L. , Child A. , Kainulainen K. , Davidson R. , Puhakka L. , Peltonen L.
Genomics19:573-576(1994) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients."
Hayward C. , Rae A.L. , Porteous M.E.M. , Logie L.J. , Brock L.J.
Hum. Mol. Genet.3:373-375(1994) [PubMed] [Europe PMC] [Abstract]

"An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome."
Stahl-Hallengren C. , Ukkonen T. , Kainulainen K. , Kristofersson U. , Saxne T. , Tornqvist K. , Peltonen L.
J. Clin. Invest.94:709-713(1994) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation of fibrillin in a patient with Marfan syndrome."
Hewett D.R. , Lynch J.R. , Child A. , Sykes B.C.
J. Med. Genet.31:338-339(1994) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly."
Hayward C. , Porteous M.E.M. , Brock D.J.H.
Mol. Cell. Probes8:325-327(1994) [PubMed] [Europe PMC] [Abstract]

"Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome."
Kainulainen K. , Karttunen L. , Puhakka L. , Sakai L. , Peltonen L.
Nat. Genet.6:64-69(1994) [PubMed] [Europe PMC] [Abstract]

"A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection."
Francke U. , Berg M.A. , Tynan K. , Brenn T. , Liu W. , Aoyama T. , Gasner C. , Miller D.C. , Furthmayr H.
Am. J. Hum. Genet.56:1287-1296(1995) [PubMed] [Europe PMC] [Abstract]

"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons."
Nijbroek G. , Sood S. , McIntosh I. , Francomano C.A. , Bull E. , Pereira L. , Ramirez F. , Pyeritz R.E. , Dietz H.C.
Am. J. Hum. Genet.57:8-21(1995) [PubMed] [Europe PMC] [Abstract]

"The phenotypic continuum associated with FBN1 mutations includes the Shprintzen-Goldberg syndrome."
Dietz H.C. , Sood I. , McIntosh I.
Am. J. Hum. Genet.57:A211-A211(1995)

"A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome."
Milewicz D.M. , Grossfield J. , Cao S.-N. , Kielty C. , Covitz W. , Jewett T.
J. Clin. Invest.95:2373-2378(1995) [PubMed] [Europe PMC] [Abstract]

"Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene."
Putnam E.A. , Cho M. , Zinn A.B. , Towbin J.A. , Byers P.H. , Milewicz D.M.
Am. J. Med. Genet.62:233-242(1996) [PubMed] [Europe PMC] [Abstract]

"Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome."
Ades L.C. , Haan E.A. , Colley A.F. , Richards R.I.
J. Med. Genet.33:665-671(1996) [PubMed] [Europe PMC] [Abstract]

"A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype."
Booms P. , Withers A.P. , Boxer M. , Kaufmann U.C. , Hagemeier C. , Vetter U. , Robinson P.N.
Hum. Genet.100:195-200(1997) [PubMed] [Europe PMC] [Abstract]

"The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?"
Schrijver I. , Liu W. , Francke U.
Hum. Genet.99:607-611(1997) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations."
Hayward C. , Porteous M.E.M. , Brock D.J.H.
Hum. Mutat.10:280-289(1997) [PubMed] [Europe PMC] [Abstract]

"P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome."
Watanabe Y. , Yano S. , Koga Y. , Yukizane S. , Nishiyori A. , Yoshino M. , Kato H.
Hum. Mutat.10:326-327(1997) [PubMed] [Europe PMC] [Abstract]

"P1148A in fibrillin-1 is not a mutation anymore."
Wang M. , Mathews K.R. , Imaizumi K. , Beiraghi S. , Blumberg B. , Scheuner M. , Graham J.M. Jr. , Godfrey M.
Nat. Genet.15:12-12(1997) [PubMed] [Europe PMC] [Abstract]

"Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome."
Montgomery R.A. , Geraghty M.T. , Bull E. , Gelb B.D. , Johnson M. , McIntosh I. , Francomano C.A. , Dietz H.C.
Am. J. Hum. Genet.63:1703-1711(1998) [PubMed] [Europe PMC] [Abstract]

"Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype."
Black C. , Withers A.P. , Gray J.R. , Bridges A.B. , Craig A. , Baty D.U. , Boxer M.
Hum. Mutat. Suppl.1:S198-S200(1998) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)."
Grau U. , Klein H.-G. , Detter C. , Mair H. , Welz A. , Seidel D. , Reichart B.
Hum. Mutat.12:137-137(1998) [PubMed] [Europe PMC] [Abstract]

"Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation."
Collod-Beroud G. , Lackmy-Port-Lys M. , Jondeau G. , Mathieu M. , Maingourd Y. , Coulon M. , Guillotel M. , Junien C. , Boileau C.
Am. J. Hum. Genet.65:917-921(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome."
El-Aleem A.A. , Karck M. , Haverich A. , Schmidtke J. , Arslan-Kirchner M.
Hum. Mutat.14:181-181(1999) [PubMed] [Europe PMC] [Abstract]

"Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome."
Loeys B. , Nuytinck L. , Delvaux I. , De Bie S. , De Paepe A.
Arch. Intern. Med.161:2447-2454(2001) [PubMed] [Europe PMC] [Abstract]

"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. , Turkmen S. , Neumann L.M. , Pregla R. , Leitner C. , Schramm C. , Lorenz P. , Hagemeier C. , Fuchs J. , Skovby F. , Rosenberg T. , Robinson P.N.
Hum. Mutat.20:197-208(2002) [PubMed] [Europe PMC] [Abstract]

"Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions."
Koerkkoe J. , Kaitila I. , Loennqvist L. , Peltonen L. , Ala-Kokko L.
J. Med. Genet.39:34-41(2002) [PubMed] [Europe PMC] [Abstract]

"In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome."
Faivre L. , Gorlin R.J. , Wirtz M.K. , Godfrey M. , Dagoneau N. , Samples J.R. , Le Merrer M. , Collod-Beroud G. , Boileau C. , Munnich A. , Cormier-Daire V.
J. Med. Genet.40:34-36(2003) [PubMed] [Europe PMC] [Abstract]

"Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy."
Biggin A. , Holman K. , Brett M. , Bennetts B. , Ades L.
Hum. Mutat.23:99-99(2004) [PubMed] [Europe PMC] [Abstract]

"Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1."
Vollbrandt T. , Tiedemann K. , El-Hallous E. , Lin G. , Brinckmann J. , John H. , Baetge B. , Notbohm H. , Reinhardt D.P.
J. Biol. Chem.279:32924-32931(2004) [PubMed] [Europe PMC] [Abstract]

"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 M.C. , Meloni G. , Magrassi L. , Brega A. , Bedeschi M.F. , Torrente I. , Mari F. , Tavazzi L. more...
Hum. Mutat.26:494-494(2005) [PubMed] [Europe PMC] [Abstract]

"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. , Muller G. , Singh K.K. , Schmidtke J. , Arslan-Kirchner M.
Hum. Mutat.26:529-539(2005) [PubMed] [Europe PMC] [Abstract]

"Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene."
Barnett C.P. , Wilson G.J. , Chiasson D.A. , Gross G.J. , Hinek A. , Hawkins C. , Chitayat D.
Am. J. Med. Genet. A152:2409-2412(2010) [PubMed] [Europe PMC] [Abstract]

"A Japanese-specific allele in the GALNT11 gene."
Yuasa I. , Umetsu K. , Matsusue A. , Nishimukai H. , Harihara S. , Fukumori Y. , Saitou N. , Jin F. , Chattopadhyay P.K. , Henke L. , Henke J.
Leg. Med.12:208-211(2010) [PubMed] [Europe PMC] [Abstract]

"Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome."
Loeys B.L. , Gerber E.E. , Riegert-Johnson D. , Iqbal S. , Whiteman P. , McConnell V. , Chillakuri C.R. , Macaya D. , Coucke P.J. , De Paepe A. , Judge D.P. , Wigley F. , Davis E.C. , Mardon H.J. , Handford P. , Keene D.R. , Sakai L.Y. , Dietz H.C.
Sci. Transl. Med.2:23RA20-23RA20(2010) [PubMed] [Europe PMC] [Abstract]

"Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias."
Le Goff C. , Mahaut C. , Wang L.W. , Allali S. , Abhyankar A. , Jensen S. , Zylberberg L. , Collod-Beroud G. , Bonnet D. , Alanay Y. , Brady A.F. , Cordier M.P. , Devriendt K. , Genevieve D. , Kiper P.O. , Kitoh H. , Krakow D. , Lynch S.A. , Le Merrer M. , Megarbane A. , Mortier G. , Odent S. , Polak M. , Rohrbach M. , Sillence D. , Stolte-Dijkstra I. , Superti-Furga A. , Rimoin D.L. , Topouchian V. , Unger S. , Zabel B. , Bole-Feysot C. , Nitschke P. , Handford P. , Casanova J.L. , Boileau C. , Apte S.S. , Munnich A. , Cormier-Daire V. more...
Am. J. Hum. Genet.89:7-14(2011) [PubMed] [Europe PMC] [Abstract]

"Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes."
Baetens M. , Van Laer L. , De Leeneer K. , Hellemans J. , De Schrijver J. , Van De Voorde H. , Renard M. , Dietz H. , Lacro R.V. , Menten B. , Van Criekinge W. , De Backer J. , De Paepe A. , Loeys B. , Coucke P.J.
Hum. Mutat.32:1053-1062(2011) [PubMed] [Europe PMC] [Abstract]