Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassingFBN1, and literature review
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Title
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassingFBN1, and literature review
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 1, Pages 200-206
Publisher
Wiley
Online
2016-09-12
DOI
10.1002/ajmg.a.37975
References
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Note: Only part of the references are listed.- Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
- (2016) Aline Verstraeten et al. HUMAN MUTATION
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- Beneficial Outcome of Losartan Therapy Depends on Type ofFBN1Mutation in Marfan SyndromeCLINICAL PERSPECTIVE
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- (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
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