Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- The revised Ghent nosology for the Marfan syndrome.J Med Genet. 2010; 47: 476-485
- Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome.Acta Ophthalmol. 2015; 93: 46-53
- The eye in the Marfan syndrome.Trans Am Ophthalmol Soc. 1981; 79: 684-733
- Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.Eur J Hum Genet. 2009; 17: 1222-1230
- Erratum in: Eur J Hum Genet. 2009;17:1526.
- Current concepts of ocular manifestations in Marfan syndrome.Surv Ophthalmol. 2006; 51: 561-575
- Molecular pathogenesis and management strategies of ectopia lentis.Eye (Lond). 2014; 28: 162-168
- Prevalence of ectopia lentis and retinal detachment in Marfan syndrome.Acta Ophthalmol. 2014; 92: e82-e83
- 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.Am J Hum Genet. 2007; 81: 454-466
- A descriptive study of ocular characteristics in Marfan syndrome.Acta Ophthalmol. 2013; 91: 751-755
- Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.Am J Hum Genet. 2002; 71: 223-237
- Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.Genomics. 1993; 17: 468-475
- Ectopia lentis as the presenting and primary feature in Marfan syndrome.Am J Med Genet A. 2011; 155A: 2661-2668
- The translational science of Marfan syndrome.Heart. 2011; 97: 1206-1214
- Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Hum Mutat. 2002; 20: 153-161
- Molecular genetics of Marfan syndrome.Curr Opin Cardiol. 2005; 20: 194-200
- Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.Clin Genet. 2014; 86: 552-557
Presented as a poster at the 2013 annual ARVO Meeting in Seattle, Wash.