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Publications by Ben C J Hamel
Homozygosity for a FBN1 Missense Mutation: Clinical and Molecular Evidence for Recessive Marfan Syndrome
European Journal of Human Genetics
Genetics
Structural Variation in Xq28: MECP2 Duplications in 1% of Patients With Unexplained XLMR and in 2% of Male Patients With Severe Encephalopathy
European Journal of Human Genetics
Genetics
Related publications
A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome
Archives of Pediatrics & Adolescent Medicine
A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Harderoporphyria Due to Homozygosity for Coproporphyrinogen Oxidase Missense Mutation H327R
Journal of Inherited Metabolic Disease
Genetics
Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome
PeerJ
Genetics
Molecular Biology
Biochemistry
Biological Sciences
Medicine
Agricultural
Neuroscience
Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.
Journal of Medical Genetics
Genetics
Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.
Journal of Medical Genetics
Genetics
Increased Frequency of FBN1 Frameshift and Nonsense Mutations in Marfan Syndrome Patients With Aortic Dissection
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Table 2: FBN1 Variants Identified for Affected Individuals in Three Marfan Families.
A Missense Variant in ITPR1 Provides Evidence for Autosomal Recessive SCA29 With Asymptomatic Cerebellar Hypoplasia in Carriers
European Journal of Human Genetics
Genetics
