NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

(2013) A. Dardis et al.   NUCLEIC ACIDS RESEARCH

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

(2012) Pascaline Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

The translational science of Marfan syndrome

(2011) G. Jondeau et al.   HEART

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

(2011) Ryan Kirschner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

(2011) Nicola Carboni et al.   MUSCLE & NERVE

Prenatal diagnosis of neonatal Marfan syndrome

(2011) Cristina Gavilán et al.   PRENATAL DIAGNOSIS

The clinical spectrum of complete FBN1 allele deletions

(2010) Yvonne Hilhorst-Hofstee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

(2010) Chantal Stheneur et al.   PEDIATRIC RESEARCH

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Severe Marfan syndrome due to FBN1 exon deletions

(2008) Moira Blyth 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