The new Ghent criteria for Marfan syndrome: what do they change?

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

(2011) T Radonic et al.   CLINICAL GENETICS

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

(2011) Mine Arslan-Kirchner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cardiovascular manifestations in men and women carrying a FBN1 mutation

(2010) Delphine Détaint et al.   EUROPEAN HEART JOURNAL

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

(2009) Dina Ahram et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

(2009) L. Faivre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

(2009) Chantal Stheneur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

(2008) Meike Rybczynski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

(2008) L Faivre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

(2008) L. Faivre et al.   PEDIATRICS