Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism

(2020) Casey J. Brewer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

(2019) Pauline Arnaud et al.   GENETICS IN MEDICINE

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

(2016) Aline Verstraeten et al.   HUMAN MUTATION

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

(2016) Pauline Arnaud et al.   JOURNAL OF MEDICAL GENETICS

Síndrome de Marfan causado por mosaicismo somático de una mutación en splicing en FBN1

(2016) Javier Rekondo et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Mosaic Neurofibromatosis Type 1: A Systematic Review

(2015) Maria Teresa García-Romero et al.   PEDIATRIC DERMATOLOGY

Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories

(2014) Laurence Campens et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

(2014) Antonín Šípek et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mosaicism and clinical genetics

(2014) Nancy B. Spinner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

(2011) Monique M van Veghel-Plandsoen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

The clinical spectrum of complete FBN1 allele deletions

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

The revised Ghent nosology for the Marfan syndrome

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Severe Marfan syndrome due to FBN1 exon deletions

(2008) Moira Blyth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A