List of works - Nadine Hanna

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1

scientific article

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

scientific article

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

scientific article published on 04 February 2015

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

scientific article

Expanding the skeletal phenotype of Loeys-Dietz syndrome

scientific article

Plasma proteome to look for diagnostic biomarkers of early bacterial sepsis after liver transplantation: a preliminary study

scientific article

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

scientific article published on 31 August 2016

ELN gene triplication responsible for familial supravalvular aortic aneurysm

article

A Case of Rheumatoid Arthritis Associated with SMAD3 Gene Mutation: A New Clinical Entity?

article

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

scientific article published on 20 September 2016

Mutation mechanisms and their consequences

scientific article

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

scientific article published on 2 February 2016

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome

scientific article published in June 2008

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?

scientific article published on 09 April 2012

List of works by Nadine Hanna

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

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

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

Expanding the skeletal phenotype of Loeys-Dietz syndrome

Plasma proteome to look for diagnostic biomarkers of early bacterial sepsis after liver transplantation: a preliminary study

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

ELN gene triplication responsible for familial supravalvular aortic aneurysm

A Case of Rheumatoid Arthritis Associated with SMAD3 Gene Mutation: A New Clinical Entity?

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Mutation mechanisms and their consequences

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?