Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

The Expression of Neuropilin-1 in Human Placentas From Normal and Preeclamptic Pregnancies

(2017) Ayala Arad et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

(2016) Matias Hannuksela et al.   BMC Medical Genetics

Role of miR-195 in Aortic Aneurysmal Disease

(2014) Anna Zampetaki et al.   CIRCULATION RESEARCH

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

(2014) Marina Gago-Díaz et al.   CLINICA CHIMICA ACTA

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

(2012) M. Silberstein et al.   BIOINFORMATICS

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2010) Li Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Thoracic Aortic Aneurysm

(2010) John A. Elefteriades et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channelCLCN1gene

(2009) Adel Shalata et al.   MUSCLE & NERVE