Diagnosis and genetics of Marfan syndrome

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

(2014) Elisabeth Gillis et al.   HUMAN MUTATION

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome

(2013) Alana Cecchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical Features Differ Substantially Between Caucasian and Asian Populations of Marfan Syndrome

(2013) Romy Franken et al.   CIRCULATION JOURNAL

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

(2013) P Callier et al.   CLINICAL GENETICS

Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial

(2013) M. Groenink et al.   EUROPEAN HEART JOURNAL

Circulating transforming growth factor-β as a prognostic biomarker in Marfan syndrome

(2013) Romy Franken et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Co-occurrence of Marfan syndrome and schizophrenia: What can be learned?

(2012) Maarten J.A. Van Den Bossche et al.   European Journal of Medical Genetics

Current and future pharmacological treatment strategies with regard to aortic disease in Marfan syndrome

(2012) Alexander W Hartog et al.   EXPERT OPINION ON PHARMACOTHERAPY

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

(2012) YOUNG-HWA SONG et al.   JOURNAL OF GENETICS

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections

(2012) Wen-Jing Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

(2011) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

(2011) Larissa V Furtado et al.   BMC Medical Genetics

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

(2011) S Sheikhzadeh et al.   CLINICAL GENETICS

Variabilidad fenotípica del síndrome de Marfan en una familia con una nueva mutación en el gen FBN1

(2011) Aránzazu Díaz de Bustamante et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene

(2010) Christopher P. Barnett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FBN1mutations in patients with descending thoracic aortic dissections

(2010) Ariel Brautbar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome

(2010) S-C Chao et al.   CLINICAL GENETICS

Osteosarcoma in a Marfan patient with a novel premature termination codon in theFBN1gene

(2010) Adriana Roopnariane et al.   CONNECTIVE TISSUE RESEARCH

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

(2010) Mine Arslan-Kirchner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The clinical spectrum of complete FBN1 allele deletions

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

A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

(2010) L. Evangelisti et al.   European Journal of Medical Genetics

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

(2010) Laurence Faivre et al.   European Journal of Medical Genetics

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

(2010) Jose Antonio Aragon-Martin et al.   HUMAN MUTATION

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

(2010) Yvonne Hilhorst-Hofstee et al.   HUMAN MUTATION

The revised Ghent nosology for the Marfan syndrome

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

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

(2010) B. L. Loeys et al.   Science Translational Medicine

The distal aorta in the Marfan syndrome

(2010) B. J. M. Mulder   Netherlands Heart Journal

Identification of novelFBN1andTGFBR2mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

(2009) Brian Hon-Yin Chung et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection of 53FBN1mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

(2009) C.L.S. Turner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

(2009) Chia-Cheng Hung et al.   ANNALS OF HUMAN GENETICS

Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene

(2009) Murat Derbent et al.   CLINICAL DYSMORPHOLOGY

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

(2009) M Attanasio et al.   CLINICAL GENETICS

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novelFBN1mutations

(2009) B Söylen et al.   CLINICAL GENETICS

Paucity of skeletal manifestations in hispanic families with FBN1 mutations

(2009) Carlos Villamizar et al.   European Journal of Medical Genetics

Quantitative sequence analysis ofFBN1premature termination codons provides evidence for incomplete NMD in leukocytes

(2009) István Magyar et al.   HUMAN MUTATION

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

(2009) Philippe Khau Van Kien et al.   HUMAN MUTATION

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

Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture

(2008) M. Klintschar et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Intracranial Hypertension in 2 Children With Marfan Syndrome

(2008) Yvonne Hilhorst-Hofstee et al.   JOURNAL OF CHILD NEUROLOGY

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome

(2008) L Kochilas et al.   Journal of Perinatology