Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassingFBN1, and literature review

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

(2016) Aline Verstraeten et al.   HUMAN MUTATION

The neuromuscular differential diagnosis of joint hypermobility

(2015) S. Donkervoort et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Potential Phenotype–Genotype Correlation in Marfan Syndrome

(2015) Harry C. Dietz   Circulation-Cardiovascular Genetics

Beneficial Outcome of Losartan Therapy Depends on Type ofFBN1Mutation in Marfan SyndromeCLINICAL PERSPECTIVE

(2015) Romy Franken et al.   Circulation-Cardiovascular Genetics

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

(2015) Mélodie Aubart et al.   HUMAN MOLECULAR GENETICS

Potential Phenotype–Genotype Correlation in Marfan Syndrome

(2015) Harry C. Dietz   Circulation-Cardiovascular Genetics

Beneficial Outcome of Losartan Therapy Depends on Type ofFBN1Mutation in Marfan SyndromeCLINICAL PERSPECTIVE

(2015) Romy Franken et al.   Circulation-Cardiovascular Genetics

Roles of Histamine in Exercise-Induced Fatigue: Favouring Endurance and Protecting against Exhaustion

(2012) Fukie Niijima-Yaoita et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

TRP channels in normal and dystrophic skeletal muscle

(2012) Philippe Gailly   CURRENT OPINION IN PHARMACOLOGY

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

(2012) Mileny ES Colovati et al.   Molecular Cytogenetics

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

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

The clinical spectrum of complete FBN1 allele deletions

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

Comparative gene expression analysis in mouse models for multiple sclerosis, Alzheimer's disease and stroke for identifying commonly regulated and disease-specific gene changes

(2010) Vivian Tseveleki et al.   GENOMICS

The revised Ghent nosology for the Marfan syndrome

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

Craniosynostosis in a patient with a de novo 15q15-q22 deletion

(2008) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histamine in the Nervous System

(2008) Helmut L. Haas et al.   PHYSIOLOGICAL REVIEWS