C. Boileau

C. Boileau, V. Cottin, R. Borie, 2021, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

G. Jondeau, L. Gouya, C. Boileau, 2021, Genetics in Medicine.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

S. Leal, D. Milewicz, D. Guo, 2019, Journal of Medical Genetics.

Congenital heart disease Cardiovascular manifestations in men and women carrying a FBN 1 mutation

P. Robinson, E. Arbustini, U. Francke, 2010 .

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Corey L. Reynolds, J. Shendure, D. Nickerson, 2016, The Journal of clinical investigation.

MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

S. Leal, D. Milewicz, D. Guo, 2018, Genetics in Medicine.

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

M. Rieder, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Genetics of Thoracic Aortic Aneurysms

G. Jondeau, C. Boileau, 2012, Current Atherosclerosis Reports.

The translational science of Marfan syndrome

J. Michel, G. Jondeau, C. Boileau, 2011, Heart.

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2010, European Journal of Human Genetics.

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

S. Lemaire, R. Jeremy, D. Milewicz, 2016, Circulation. Cardiovascular genetics.

International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE

S. Lemaire, R. Jeremy, D. Milewicz, 2016 .

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

E. Arbustini, U. Francke, D. Halliday, 2008, Journal of Medical Genetics.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

C. Boileau, P. Arnaud, J. Zech, 2020, Cytogenetic and Genome Research.

Marfan Syndrome: Always Evolving

G. Jondeau, C. Boileau, O. Milleron, 2017, Circulation. Cardiovascular genetics.

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

G. Jondeau, P. Dieudé, J. Roume, 2014, PloS one.

Surgical management of patients with Marfan syndrome: evolution throughout the years.

F. Tubach, C. Béroud, G. Jondeau, 2012, Archives of cardiovascular diseases.

Le syndrome de Marfan

G. Jondeau, C. Boileau, B. Chevallier, 2003 .

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

A. F. Scott, D. Milewicz, H. Dietz, 2018, Journal of the American College of Cardiology.

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

M. Gross, D. Milewicz, D. Guo, 2014, American journal of human genetics.

Marfan syndrome.

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature reviews. Disease primers.

Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome

R. Iyengar, J. Humphrey, G. Jondeau, 2021, Arteriosclerosis, thrombosis, and vascular biology.

Marfan sartan saga, episode X.

G. Jondeau, C. Boileau, O. Milleron, 2020, European heart journal.

Familial thoracic aortic aneurysms

G. Jondeau, C. Boileau, 2014, Current opinion in cardiology.

Marfan and Related Fibrillinopathies

C. Boileau, 2020 .

Clinical utility gene card for : Marfan syndrome type 1 and related phenotypes [ FBN 1 ]

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2018 .

Molecular Genetics of the Fibrillinopathies

G. Jondeau, G. Collod-Béroud, C. Boileau, 2016 .

The revised ghent nosology; reclassifying isolated ectopia lentis

D. Charteris, G. Collod-Béroud, G. Arno, 2015, Clinical genetics.

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

E. Chouery, A. Mégarbané, C. Boileau, 2012, American journal of medical genetics. Part A.

The new Ghent criteria for Marfan syndrome: what do they change?

E. Arbustini, U. Francke, C. Béroud, 2012, Clinical genetics.

A case-control study of cutaneous signs in adult patients with Marfan disease: diagnostic value of striae.

G. Jondeau, C. Boileau, C. Fermanian, 2011, Journal of the American Academy of Dermatology.

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

E. Arbustini, U. Francke, G. Jondeau, 2011, Pediatric Research.

Spinal imaging contributes to the diagnosis of Marfan syndrome.

G. Jondeau, C. Boileau, B. Chevallier, 2010, Joint, bone, spine : revue du rhumatisme.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

G. Jondeau, M. Claustres, G. Collod-Béroud, 2009, European Journal of Human Genetics.

In Vivo Corneal Confocal Microscopy in Marfan Syndrome

C. Boileau, V. Iordanidou, C. Baudouin, 2006, Cornea.

Bone mineral density in Marfan syndrome. A large case-control study.

F. Tubach, G. Jondeau, C. Boileau, 2006, Joint, bone, spine : revue du rhumatisme.

Marfan syndrome in the third Millennium

G. Collod-Béroud, C. Boileau, 2002, European Journal of Human Genetics.

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

C. Junien, G. Jondeau, G. Collod-Béroud, 1999, American Journal of Human Genetics.

Heterozygous TGFBR2 mutations in Marfan syndrome

Yusuke Nakamura, Naomichi Matsumoto, Mathilde Varret, 2004, Nature Genetics.

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

C. Boileau, P. Arnaud, C. Le Goff, 2021, Frontiers in Genetics.

Genetic testing for aortopathies: primer for the nongeneticist.

G. Jondeau, C. Boileau, J. De Backer, 2019, Current opinion in cardiology.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A. Munnich, R. Gorlin, G. Collod-Béroud, 2003, Journal of medical genetics.

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

Z. Daniil, M. Maniati, P. Revy, 2022, Respiration.

Endothelial progenitor cells and rheumatic disorders.

C. Boileau, Y. Allanore, J. Avouac, 2008, Joint, bone, spine : revue du rhumatisme.

ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms

C. Boileau, C. Le Goff, Zakaria Mougin, 2021, Biomolecules.

No evidence of somatic FGFR3 mutation in various types of carcinoma

J. Thiery, F. Radvanyi, E. Brambilla, 2001, Oncogene.

Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis.

J. Cracowski, P. Dieudé, C. Boileau, 2011, Arthritis and rheumatism.

Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian population.

J. Cracowski, P. Dieudé, C. Boileau, 2011, Clinical and experimental rheumatology.

Prevention Familial hypercholesterolaemia in children and adolescents : gaining decades of life by optimizing detection and treatment

J. Borén, S. Humphries, M. Taskinen, 2015 .

Low Prevalence of Detectable HIV Plasma Viremia in Patients Treated With Antiretroviral Therapy in Burkina Faso and Mali

C. Tremblay, A. Chamberland, C. Boileau, 2008, Journal of acquired immune deficiency syndromes.

Polymorphic markers of the fibrillin-1 gene and systemic sclerosis in European Caucasian patients.

C. Boileau, L. Mouthon, J. Sibilia, 2008, The Journal of rheumatology.

ZYMOGEN CLEAVAGE AND EFFECTS ON THE LOW DENSITY LIPOPROTEIN (LDL) RECEPTOR AND LDL CHOLESTEROL

A. Prat, N. Seidah, D. Rader, 2004 .

Genetic Testing in Familial Hypercholesterolemia

C. Boileau, M. Abifadel, J. Rabès, 2021, JACC. Basic to translational science.

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

A. Munnich, C. Junien, C. Boileau, 2009, Human mutation.

In Vivo Evidence That Furin from Hepatocytes Inactivates PCSK9*

A. Prat, N. Seidah, A. Chamberland, 2010, The Journal of Biological Chemistry.

Inadequate adherence to antiretroviral treatment and prevention in hospital and community sites in Burkina Faso and Mali: a study by the ATARAO group

M. Zunzunegui, C. Boileau, V. Nguyen, 2007, International journal of STD & AIDS.

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.

C. Boileau, Y. Allanore, C. Cormier, 2010, Joint, bone, spine : revue du rhumatisme.

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

A. Prat, N. Seidah, J. Michel, 2012, Atherosclerosis.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.

C. Boileau, D. Bonnefont-Rousselot, M. Varret, 2019, Journal of clinical lipidology.

[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].

C. Boileau, M. Abifadel, M. Varret, 2007, Annales d'endocrinologie.

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

C. Boileau, M. Varret, J. Rabès, 2009, Atherosclerosis.

Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

C. Junien, M. Krempf, G. Jondeau, 1997, Human mutation.

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

A. Munnich, C. Junien, C. Boileau, 2010, Human mutation.

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient

C. Junien, C. Boileau, L. Monnier, 1991, Human Genetics.

Enhanced late-outgrowth circulating endothelial progenitor cell levels in rheumatoid arthritis and correlation with disease activity

C. Boileau, Y. Allanore, J. Avouac, 2010, Arthritis research & therapy.

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

J. Ferrières, A. Philippi, P. Giral, 2022, International journal of molecular sciences.

Splicing mutation in the fibrillin‐1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

H. Mandel, M. Shinawi, C. Boileau, 2005, Pediatric pulmonology.

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

S. Julia, N. Chassaing, G. Jondeau, 2020, Molecular genetics & genomic medicine.

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease

Catherine Boileau, Päivi Pajukanta, Anne Tybjærg-Hansen, 2013, European heart journal.

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

G. Luc, E. Bruckert, C. Boileau, 2018, European Journal of Human Genetics.

Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11.

J. Ruidavets, C. Boileau, P. Benlian, 1991, American journal of human genetics.

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon

C. Boileau, M. Abifadel, M. Varret, 2022, Frontiers in Genetics.

Sexual and marital trajectories and HIV infection among ever-married women in rural Malawi

H. Kohler, C. Boileau, S. J. Heymann, 2009, Sexually Transmitted Infections.

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

A. Covone, C. Broeckhoven, K. Bushby, 2004, Human Genetics.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

A. Fischer, J. Casanova, C. Picard, 2008, The Journal of experimental medicine.

Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.

C. Junien, C. Boileau, L. Mouthon, 2006, Rheumatology.

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention

P. Awadalla, P. Robson, B. Knoppers, 2018, Canadian Medical Association Journal.

Hunting for the genetic basis of Susac syndrome

P. Dieudé, C. Boileau, B. Keren, 2021, European journal of neurology.

Association of hypoxia‐inducible factor 1A (HIF1A) gene polymorphisms with systemic sclerosis in a French European Caucasian population

P. Dieudé, C. Boileau, L. Mouthon, 2009, Scandinavian journal of rheumatology.

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

S. Neubauer, M. Flather, M. Groenink, 2022, The Lancet.

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

C. Junien, B. Dastugue, C. Boileau, 1992, Human mutation.

Monitoring HIV risk and evaluating interventions among young people in urban West Africa: development and validation of an instrument.

M. Zunzunegui, C. Boileau, M. Sylla, 2008, AIDS education and prevention : official publication of the International Society for AIDS Education.

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

M. Gross, G. Jondeau, C. Boileau, 2019, Genes.

Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population.

M. Humbert, J. Cracowski, P. Dieudé, 2010, Arthritis and rheumatism.

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene

J. Ribalta, C. Boileau, L. Masana, 2003, Journal of Human Genetics.

Phenotype-Haplotype Correlation of IRF5 in Systemic Sclerosis: Role of 2 Haplotypes in Disease Severity

P. Dieudé, C. Boileau, L. Mouthon, 2010, The Journal of Rheumatology.

Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: association with the functional IRAK1 196Phe/532Ser haplotype.

H. Wichmann, W. Koenig, P. Dieudé, 2011, Arthritis and rheumatism.

[Non-radioimmunometric NT-ProBNP and BNP assays: impact of diluent, age, gender, BMI].

G. Jondeau, H. Puy, C. Boileau, 2005, Annales de biologie clinique.

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

H. Dollfus, C. Boileau, J. Dufier, 2010, Ophthalmic genetics.

Disturbed angiogenesis in systemic sclerosis: high levels of soluble endoglin.

D. Borderie, H. Lemaréchal, C. Boileau, 2008, Rheumatology.

Development and Turnover by Oncostatin M Regulation of Extrathymic T Cell

C. Perreault, C. Clegg, C. Boileau, 2000 .

Genetic basis for systemic sclerosis.

C. Boileau, Y. Allanore, A. Kahan, 2007, Joint, bone, spine : revue du rhumatisme.

" Marfan syndrome " to " a Marfan-like disorder

C. Junien, G. Jondeau, C. Boileau, 2007 .

Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren

C. Boileau, M. Abifadel, M. Varret, 2022, Metabolites.

Association study of CRP gene in systemic sclerosis in European Caucasian population

J. Cracowski, P. Dieudé, C. Boileau, 2014, Rheumatology International.

The Journal of Rheumatology Anticentromere-positive Patients with Systemic Sclerosis TNFSF4 as a Susceptibility Gene Preferentially Associated with the Subset of Independent Replication and Metaanalysis of Association Studies Establish

M. Mayes, T. Radstake, F. Arnett, 2012 .

Association of Metalloproteinase Gene Polymorphisms with Systemic Sclerosis in the European Caucasian Population

J. Cracowski, P. Dieudé, C. Boileau, 2010, The Journal of Rheumatology.

Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosis.

C. Boileau, M. Vacher-Lavenu, Y. Allanore, 2010, Rheumatology.

BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4.

J. Cracowski, P. Dieudé, C. Boileau, 2009, Arthritis and rheumatism.

Insights into the pathogenesis of systemic sclerosis based on the gene expression profile of progenitor-derived endothelial cells.

C. Boileau, P. Couraud, Y. Allanore, 2011, Arthritis and rheumatism.

Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells

M. Gross, C. Boileau, F. Chaubet, 2019, Molecular therapy. Nucleic acids.

Identification of the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

C. Junien, C. Boileau, P. Benlian, 1993, Human mutation.

Marfan Disease: Imaging Features

G. Jondeau, C. Boileau, J. Pelage, 2014 .

Agreement in the CARTaGENE cohort between self-reported medication use and claim data

M. Abrahamowicz, C. Boileau, Y. Payette, 2021, Chronic illness.

Diagnosis and management of aortic dissection

A Haverich, R Erbel, J Taylor, 2001 .

Impact of a modified directly administered antiretroviral treatment intervention on virological outcome in HIV‐infected patients treated in Burkina Faso and Mali

C. Tremblay, C. Boileau, V. Nguyen, 2009, HIV medicine.

[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].

V. Aboyans, R. Erbel, V. Falk, 2014, Kardiologia polska.

Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2019 .

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

A. Munnich, C. Junien, C. Boileau, 2009, Human mutation.

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].

C. Boileau, M. Abifadel, M. Varret, 2006, Medecine sciences : M/S.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

P. Robinson, E. Arbustini, G. Jondeau, 2015, European Journal of Human Genetics.

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.

C. Junien, C. Boileau, 1989, Journal of medical genetics.

2014 ESC Guidelines on the Diagnosis and Treatment of Aortic Diseases

V. Aboyans, R. Erbel, V. Falk, 2015 .

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

J. Thiery, C. Boulard, F. Radvanyi, 2004, British Journal of Cancer.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

G. Jondeau, J. Thevenon, L. Faivre, 2012, Prenatal diagnosis.

A Risk Score to Detect Subclinical Rheumatoid Arthritis–Associated Interstitial Lung Disease

P. Dieudé, X. Mariette, F. Berenbaum, 2022, Arthritis & rheumatology.

Genetic and molecular architecture of familial hypercholesterolemia

C. Boileau, M. Abifadel, 2022, Journal of internal medicine.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders

W. Berger, C. Boileau, G. Mátyás, 2006, Human mutation.

NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

J. Cracowski, P. Dieudé, C. Boileau, 2010, Annals of the rheumatic diseases.

Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.

J. Cracowski, P. Dieudé, C. Boileau, 2012, Arthritis and rheumatism.

A new KIF5B–ERBB4 gene fusion in a lung adenocarcinoma patient

A. Cazes, G. Zalcman, C. Boileau, 2021, ERJ Open Research.

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

C. Boileau, M. Kotze, C. Lintott, 2000, Molecular and cellular probes.

The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysis.

P. Dieudé, C. Boileau, L. Mouthon, 2008, Arthritis and rheumatism.

Regulation of Extrathymic T Cell Development and Turnover by Oncostatin M1

C. Perreault, C. Clegg, C. Boileau, 2000, The Journal of Immunology.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

M. Nalls, C. Blauwendraat, D. Schwartz, 2018, The New England journal of medicine.

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

P. Revy, P. Dieudé, A. Cazes, 2019, European Respiratory Journal.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

M. Jahangiri, E. Behr, M. Simpson, 2017, bioRxiv.

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

J. Coselli, S. Lemaire, D. Milewicz, 2015, Circulation. Cardiovascular genetics.

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

D. Bentley, A. Covone, C. Junien, 1992, JAMA.

Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial

G. Abecasis, E. Hagström, G. Yancopoulos, 2019, Circulation.

C57BL/6J and A/J Mice Fed a High‐Fat Diet Delineate Components of Metabolic Syndrome

A. Vigé, C. Gallou-Kabani, M. Gross, 2007, Obesity.

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

Mathilde Varret, Catherine Boileau, E. Bruckert, 2011, Orphanet journal of rare diseases.

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

Mathilde Varret, Jean-Pierre Rabès, Catherine Boileau, 2013, Human mutation.

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

C. Boileau, M. Abifadel, M. Varret, 2012, Clinica chimica acta; international journal of clinical chemistry.

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

G. Peloso, N. Stitziel, E. Bruckert, 2018, Scientific Reports.

Genetic heterogeneity of autosomal dominant hypercholesterolemia

C. Boileau, M. Abifadel, M. Varret, 2007, Clinical genetics.

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

C. Junien, M. Krempf, C. Bonaïti‐pellié, 2000, European Journal of Human Genetics.

Exome Sequencing in Suspected Monogenic Dyslipidemias

S. Gabriel, M. Daly, J. Shendure, 2015, Circulation. Cardiovascular genetics.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

P. Froguel, C. Béroud, A. Bonnefond, 2017, European Respiratory Journal.

NARC-1/PCSK9 and Its Natural Mutants

A. Prat, N. Seidah, D. Rader, 2004, Journal of Biological Chemistry.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

P. Revy, S. Gazal, P. Nitschké, 2015, European Respiratory Journal.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations in PCSK9

M. Krempf, C. Boileau, K. Ouguerram, 2004, Arteriosclerosis, thrombosis, and vascular biology.

Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies

Hans Hillege, Markus Perola, John Gallacher, 2010, International journal of epidemiology.

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

J. C. Wolters, A. von Eckardstein, L. Rohrer, 2021, Circulation research.

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2008, The American Journal of Gastroenterology.

M. Zunzunegui, C. Boileau, V. Nguyen, 2009, World health & population.

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

G Collod-Béroud, C Béroud, L Adès, 1997, Nucleic Acids Res..

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

G. Jondeau, D. Lacombe, L. Faivre, 2019, Genetics in Medicine.

Corrigendum to: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases.

V. Aboyans, R. Erbel, V. Falk, 2015, European heart journal.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].

V. Aboyans, R. Erbel, V. Falk, 2014, Kardiologia polska.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

Actionable Genes, Core Databases, and Locus‐Specific Databases

C. Béroud, A. Fabre, D. Salgado, 2016, Human mutation.

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9

A. Prat, N. Seidah, C. Boileau, 2017, Pharmacological Reviews.

R3531C Mutation in the Apolipoprotein B Gene Is Not Sufficient to Cause Hypercholesterolemia

C. Junien, M. Krempf, C. Boileau, 2000, Arteriosclerosis, thrombosis, and vascular biology.

Molecular genetics of Marfan syndrome

G. Jondeau, N. Matsumoto, C. Boileau, 2005, Current opinion in cardiology.

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5ʹ‐aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants

C. Boileau, J. Lamoril, D. Tchernitchko, 2021, British journal of haematology.

First heterozygous NOP10 mutation in familial pulmonary fibrosis

P. Revy, C. Oudin, C. Boileau, 2020, European Respiratory Journal.

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

C. Béroud, Maria Martinez, G. Jondeau, 2016, Human mutation.

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

G. Jondeau, D. Lacombe, G. Collod-Béroud, 2016, Journal of Medical Genetics.

The FBN2 gene: new mutations, locus‐specific database (Universal Mutation Database FBN2), and genotype‐phenotype correlations

D. Milewicz, C. Béroud, H. Klein, 2009, Human mutation.

A new locus‐specific database (LSDB) for mutations in the TGFBR2 gene: UMD‐TGFBR2

C. Béroud, G. Jondeau, D. Hamroun, 2008, Human mutation.

ELN gene triplication responsible for familial supravalvular aortic aneurysm

G. Jondeau, J. M. van de Kamp, C. Boileau, 2014, Cardiology in the Young.

The FBN 2 Gene : New Mutations , Locus-Specific Database ( Universal Mutation Database FBN 2 ) , and Genotype-Phenotype Correlations

D. Milewicz, C. Béroud, H. Klein, 2008 .

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

Marfan Database (third edition): new mutations and new routines for the software

Hanns-Georg Klein, Christophe Béroud, Gwenaëlle Collod-Béroud, 1998, Nucleic Acids Res..

Fibulin-2: Genetic Mapping and Exclusion as a Candidate Gene in Marfan Syndrome Type 2

J. Weissenbach, R. Timpl, Takako Sasaki, 1996, European journal of human genetics : EJHG.

A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

J. Weissenbach, C. Junien, M. Babron, 1994, Nature Genetics.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

E. Arbustini, U. Francke, C. Béroud, 2009, American journal of medical genetics. Part A.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

E. Arbustini, U. Francke, C. Béroud, 2009, European Journal of Human Genetics.

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

Jay Shendure, Mathilde Varret, Catherine Boileau, 2012, Nature Genetics.

A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

C Junien, M Sarfarazi, P Farndon, 1992, Journal of medical genetics.

Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.

F. Tubach, G. Jondeau, L. Faivre, 2010, Archives of cardiovascular diseases.

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

Catherine Boileau, Beat Steinmann, Gábor Mátyás, 2002, Human mutation.

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

Thierry Soussi, Christophe Béroud, Gwenaëlle Collod-Béroud, 1997, Nucleic Acids Res..

Chromosomal assignment of a second locus for Marfan Syndrome To Chromosome 3 p 24 . 2p 25 .

J. Weissenbach, C. Junien, M. Babron, 2017 .

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study

Eric E. Smith, P. Awadalla, P. Robson, 2016, BMC Public Health.

Gender differences in unsafe sexual behavior among young people in urban Mali

M. Zunzunegui, C. Boileau, S. Rashed, 2009, AIDS care.

Marfan syndrome

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature Reviews Disease Primers.

Characterization of drug Resistance in Antiretroviral-Treated Patients Infected with HIV-1 CRF02_AG and AGK Subtypes in Mali and Burkina Faso

D. Nickle, C. Tremblay, A. Chamberland, 2008, Antiviral Therapy.

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

C. Junien, G. Jondeau, C. Boileau, 1990, Journal of medical genetics.

Bone Mineral Density in Sixty Adult Patients with Marfan Syndrome

G. Jondeau, C. Boileau, P. Plantin, 1999, Osteoporosis International.

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

C. Beaumont, J. Deybach, L. Gouya, 2005, Human molecular genetics.

Recommendations of the Task Force on Aortic Dissection, European Society of Cardiology†

W. Klein, R. Erbel, B. Mulder, 2001 .

Diagnosis and management of aortic dissection.

Raimund Erbel, Fernando Alfonso, Catherine Boileau, 2001, European heart journal.

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration

A. Zwinderman, E. Arbustini, S. Neubauer, 2015, American heart journal.

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene.

Y. Okada, K. Siminovitch, C. Amos, 2015, Annals of the rheumatic diseases.

Genetic background of systemic sclerosis: autoimmune genes take centre stage.

P. Dieudé, C. Boileau, Y. Allanore, 2010, Rheumatology.

Methotrexate and rheumatoid arthritis associated interstitial lung disease

R. Porcher, D. Schwartz, E. Matteson, 2020, European Respiratory Journal.

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

C. Junien, M. Krempf, C. Boileau, 1999, American journal of human genetics.

Gender dynamics and sexual norms among youth in Mali in the context of HIV/AIDS prevention.

M. Zunzunegui, C. Boileau, V. Nguyen, 2008, African journal of reproductive health.

Immunogenetics of systemic sclerosis.

P. Dieudé, C. Boileau, Y. Allanore, 2011, Autoimmunity reviews.

Independent replication establishes the CD247 gene as a genetic systemic sclerosis susceptibility factor

J. Cracowski, P. Dieudé, C. Boileau, 2011, Annals of the rheumatic diseases.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

C. Bonaïti‐pellié, C. Boileau, C. Lavedan, 1994, Journal of medical genetics.

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

M. Gross, G. Jondeau, L. Gouya, 2015, Human molecular genetics.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

T. Bourgeron, E. Génin, M. Gross, 2018, European Journal of Human Genetics.

Changes in the lymph node microenvironment induced by oncostatin M.

C. Perreault, C. Boileau, N. Labrecque, 2003, Blood.

Independent Replication and Metaanalysis of Association Studies Establish TNFSF4 as a Susceptibility Gene Preferentially Associated with the Subset of Anticentromere-positive Patients with Systemic Sclerosis

M. Mayes, F. Arnett, J. Cracowski, 2012, The Journal of Rheumatology.

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Manfred Stuhrmann, Hartmut Schmidt, Christophe Béroud, 1998, Nucleic Acids Res..

Candidate Gene Study in Systemic Sclerosis Identifies a Rare and Functional Variant of the TNFAIP 3 Locus as a Risk Factor for Polyautoimmunity

J. Cracowski, P. Dieudé, C. Boileau, 2012 .

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

J. Weissenbach, A. Munnich, C. Junien, 2010, European Journal of Human Genetics.

Updating the genetics of systemic sclerosis

P. Dieudé, C. Boileau, Y. Allanore, 2010, Current opinion in rheumatology.

Association Study of ITGAM, ITGAX, and CD58 Autoimmune Risk Loci in Systemic Sclerosis: Results from 2 Large European Caucasian Cohorts

M. Mayes, F. Arnett, J. Cracowski, 2011, The Journal of Rheumatology.

Systemic Sclerosis : Results from 2 Large European Caucasian Cohorts Autoimmune Risk Loci in CD 58 and ITGAM , ITGAX , Association Study of YANNICK ALLANORE

M. Mayes, F. Arnett, J. Cracowski, 2011 .

Association Study of Serotonin Transporter Gene (SLC6A4) in Systemic Sclerosis in European Caucasian Populations

J. Cracowski, P. Dieudé, C. Boileau, 2010, The Journal of Rheumatology.

Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease

Y. Bossé, J. Seidman, J. Tardif, 2015, Circulation. Cardiovascular genetics.

Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs

C. Boileau, M. Abifadel, M. Varret, 2014, Current Atherosclerosis Reports.

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

M. Gross, G. Jondeau, C. Boileau, 2018, Genes.

PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.

C. Boileau, W. Jomaa, M. Abifadel, 2015, Molecular and cellular probes.

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents

C. Boileau, M. Abifadel, M. Varret, 2010, Expert opinion on therapeutic patents.

Plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in assessment of acute dyspnea.

G. Jondeau, H. Puy, C. Boileau, 2005, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Relative Effectiveness of BNT162b2, mRNA-1273, and Ad26.COV2.S Vaccines and Homologous Boosting in Preventing COVID-19 in Adults in the US

C. Boileau, T. Ducruet, A. Rosen, 2023, medRxiv.

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome: An Observational Cohort Study

C. Béroud, G. Jondeau, C. Boileau, 2019, Circulation. Cardiovascular imaging.

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2012, International journal of cancer.

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

P. Giral, C. Boileau, A. Carrié, 2018, Journal of clinical lipidology.

Aortic Event Rate in the Marfan Population: A Cohort Study

F. Tubach, C. Béroud, G. Jondeau, 2012, Circulation.

Dissection in Marfan syndrome: the importance of the descending aorta.

G. Jondeau, D. Hamroun, C. Boileau, 2011, European heart journal.

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

M. Gross, G. Jondeau, L. Gouya, 2020, Genes.

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.

Q. Pellenc, C. Béroud, G. Jondeau, 2020, Journal of the American College of Cardiology.

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method

C. Junien, E. Chouery, C. Boileau, 2004, Clinical genetics.

Green space associations with mental health and cognitive function

P. Hystad, C. Boileau, Y. Payette, 2019, Environmental epidemiology.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

A. Vigé, C. Gallou-Kabani, M. Gross, 2007, American journal of physiology. Endocrinology and metabolism.

AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

P. Revy, S. Gazal, P. Dieudé, 2017 .

Single Point Mutation at Arg506 of Factor V Associated with APC Resistance and Venous Thromboembolism: Improved Detection by PCR-Mediated Site-Directed Mutagenesis

C. Boileau, J. Rabès, P. Giraudet, 1995, Thrombosis and Haemostasis.

Circulating endothelial progenitor cells in systemic sclerosis: association with disease severity

C. Boileau, P. Couraud, Y. Allanore, 2008, Annals of the rheumatic diseases.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

Enhanced expression of ephrins and thrombospondins in the dermis of patients with early diffuse systemic sclerosis: potential contribution to perturbed angiogenesis and fibrosis.

C. Boileau, M. Vacher-Lavenu, P. Corvol, 2011, Rheumatology.

Expanding the skeletal phenotype of Loeys‐Dietz syndrome

A. Munnich, F. Brunelle, C. Boileau, 2011, American journal of medical genetics. Part A.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in Medicine.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

C. Boileau, M. Abifadel, M. Varret, 2021, Metabolites.

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

C. Boileau, M. Abifadel, M. Varret, 2012, Atherosclerosis.

Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population

P. Dieudé, C. Boileau, L. Mouthon, 2006, Annals of the rheumatic diseases.

[Aortic aneurysms excluding Marfan's syndrome].

G. Jondeau, C. Boileau, C. Muti, 2003, Archives des maladies du coeur et des vaisseaux.

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

P. Maison-Blanche, G. Jondeau, A. Leenhardt, 2018, Scientific Reports.

[Diagnostic and treatment of familial hypercholesterolemia (FH) in adult: guidelines from the New French Society of Atherosclerosis (NSFA)].

M. Krempf, E. Bruckert, C. Boileau, 2013, Presse medicale.

Plasma proprotein‐convertase‐subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes

S. Hadjadj, M. Marre, S. Ragot, 2018, Diabetes, obesity & metabolism.

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

C. Junien, C. Boileau, B. Saint-Jore, 1993, Human Genetics.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

J. Lecerf, B. Coulombe, J. Ferrières, 2022, Metabolites.

Software and database for the analysis of mutations in the human LDL receptor gene

Christophe Béroud, Mathilde Varret, Jean-Pierre Rabès, 1997, Nucleic Acids Res..

C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.

J. Cracowski, P. Dieudé, C. Boileau, 2011, Arthritis and rheumatism.

Marfan syndrome and fibrillin disorders.

F. Tubach, G. Jondeau, C. Boileau, 2000, Joint, bone, spine : revue du rhumatisme.

A PCSK9 variant and familial combined hyperlipidaemia

L. Bernier, A. Munnich, C. Boileau, 2008, Journal of Medical Genetics.

Comparative Effectiveness of the Bivalent (Original/Omicron BA.4/BA.5) mRNA COVID-19 Vaccines mRNA-1273.222 and BNT162b2 Bivalent in Adults in the United States

C. Boileau, S. Gravenstein, T. Ducruet, 2023, medRxiv.

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts

C. Boileau, P. Arnaud, S. Perbet, 2023, Human Mutation.

Genotype-Mitral Valve Phenotype Correlations in Marfan Syndrome With FBN1 Pathogenic Variants

G. Jondeau, C. Boileau, P. Arnaud, 2022, JACC: Advances.

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

P. Maison-Blanche, G. Jondeau, A. Leenhardt, 2018, Scientific Reports.

Reply to “The question of heterogeneity in Marfan syndrome”

C. Junien, C. Bonaïti‐pellié, G. Jondeau, 1995, Nature Genetics.

Precision medicine in rare diseases: What is next?

M. Caulfield, M. Spielmann, A. Nordgren, 2023, Journal of internal medicine.

Reply to Gilchrist

C. Junien, G. Jondeau, C. Boileau, 1994 .

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

C. Boileau, P. Arnaud, B. Isidor, 2016, Molecular Syndromology.

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

G. Jondeau, L. Gouya, C. Boileau, 2021, Genetics in Medicine.

[Fibrillin network in normal bone tissue].

C. Boileau, P. Plantin, M. Durigon, 2000, Annales de pathologie.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

Endothelial progenitor cells and rheumatic disorders.

C. Boileau, Y. Allanore, J. Avouac, 2008, Joint, bone, spine : revue du rhumatisme.

Aortic Event Rate in the Marfan Population: A Cohort Study

F. Tubach, C. Béroud, G. Jondeau, 2012, Circulation.

J. Borén, S. Humphries, M. Taskinen, 2014, European heart journal.

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

A. Munnich, C. Junien, C. Boileau, 2009, Human mutation.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Software and database for the analysis of mutations in the human LDL receptor gene

C. Junien, C. Béroud, G. Collod-Béroud, 1997, Nucleic Acids Res..

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

C. Béroud, Maria Martinez, G. Jondeau, 2016, Human mutation.

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

C. Junien, D. Milewicz, C. Béroud, 1997, Nucleic Acids Res..

Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms.

R. Iyengar, J. Humphrey, G. Jondeau, 2019, JCI insight.

Marfan syndrome

D. Milewicz, A. Evangelista, G. Jondeau, 2021, Nature Reviews Disease Primers.

Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease

Y. Bossé, J. Seidman, J. Tardif, 2015, Circulation: Cardiovascular Genetics.

TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients

M. Humbert, M. Müller-Nurasyid, J. Cracowski, 2012, Annals of the rheumatic diseases.

A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis.

K. Strauch, L. Letenneur, J. Lambert, 2013, Arthritis and rheumatism.

Association study of B-cell marker gene polymorphisms in European Caucasian patients with systemic sclerosis.

Olivier Meyer, Eric Hachulla, Catherine Boileau, 2011, Clinical and experimental rheumatology.

Updating the genetics of systemic sclerosis

P. Dieudé, C. Boileau, Y. Allanore, 2010, Current opinion in rheumatology.