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Lista de obras de Catherine Boileau

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the Eur

artículo científico publicado en 2014

A PCSK9 variant and familial combined hyperlipidaemia.

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 1992

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

article

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 1994

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

artículo científico publicado en 1999

Actionable Genes, Core Databases, and Locus-Specific Databases.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Analytical correlation between plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in patients presenting with dyspnea.

artículo científico publicado en 2004

Angiogenesis in systemic sclerosis: impaired expression of vascular endothelial growth factor receptor 1 in endothelial progenitor-derived cells under hypoxic conditions.

artículo científico publicado en 2008

Angiogenic biomarkers predict the occurrence of digital ulcers in systemic sclerosis

artículo científico publicado en 2011

Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians

artículo científico publicado en 2009

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

artículo científico publicado en 2015

Aortic event rate in the Marfan population: a cohort study

artículo científico publicado en 2011

Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Association between theIRF5rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis

artículo científico publicado en 2009

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

article

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

article

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

artículo científico publicado en 2009

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

scientific article published on 07 August 2018

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

artículo científico publicado en 2011

Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population

article published in 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

article

Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts

artículo científico publicado en 2011

Association study of serotonin transporter gene (SLC6A4) in systemic sclerosis in European Caucasian populations

artículo científico publicado en 2010

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

artículo científico publicado en 1993

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.

artículo científico publicado en 2000

BANK1is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects withIRF5andSTAT4

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Bone mineral density in sixty adult patients with Marfan syndrome

scientific article published on 01 January 1999

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

article

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome

scientific article published on 01 August 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Cardiovascular manifestations in men and women carrying a FBN1 mutation

artículo científico publicado en 2010

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

artículo científico publicado en 2015

Characterization of drug resistance in antiretroviral-treated patients infected with HIV-1 CRF02_AG and AGK subtypes in Mali and Burkina Faso.

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

artículo científico publicado en 2009

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

scholarly article published in European Heart Journal

DNA hybridization technique to detect Shigella species and enteroinvasive escherichia coli

artículo científico publicado en 1984

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

artículo científico publicado en 2010

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

artículo científico publicado en 1999

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

artículo científico publicado en 2010

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

artículo científico publicado en 2012

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' Collaborat

artículo científico publicado en 2015

Diagnosis and management of aortic dissection

artículo científico publicado en 2001

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

artículo científico publicado en 1992

Dissection in Marfan syndrome: the importance of the descending aorta

artículo científico publicado en 2010

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

artículo científico publicado en 2008

ELN gene triplication responsible for familial supravalvular aortic aneurysm

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Endothelial progenitor cells and rheumatic disorders.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 1991

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

artículo científico publicado en 2013

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

artículo científico publicado en 2003

Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population

artículo científico publicado en 1997

Familial thoracic aortic aneurysms.

artículo científico publicado en 2014

Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2

artículo científico publicado en 1996

First heterozygous NOP10 mutation in Familial Pulmonary Fibrosis

scientific article published on 05 March 2020

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

artículo científico publicado en 1994

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Genetic basis for systemic sclerosis

artículo científico publicado en 2007

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

artículo científico publicado en 2007

Genetics of thoracic aortic aneurysms

artículo científico

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

artículo científico publicado en 2015

Heterozygous TGFBR2 mutations in Marfan syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

scientific article published on 01 January 1993

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

artículo científico publicado en 2009

Immunogenetics of systemic sclerosis.

scientific article published on 21 September 2010

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

artículo científico publicado en 2003

In vivo corneal confocal microscopy in marfan syndrome

artículo científico publicado en 2007

In vivo evidence that furin from hepatocytes inactivates PCSK9

scientific journal article

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

artículo científico publicado en 2012

Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis

artículo científico publicado en 2012

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

article

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

article

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

artículo científico publicado en 2016

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

artículo científico publicado en 1998

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2016

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 1990

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Low prevalence of detectable HIV plasma viremia in patients treated with antiretroviral therapy in Burkina Faso and Mali

artículo científico publicado en 2008

MAT2A mutations predispose individuals to thoracic aortic aneurysms

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 1997

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

artículo científico publicado en 1998

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

artículo científico publicado en 2015

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

article

Marfan sartan saga, episode X

artículo científico publicado en 2020

Marfan syndrome and fibrillin disorders

artículo científico publicado en 2000

Marfan syndrome in the third Millennium

artículo científico publicado en 2002

Marfan syndrome. Current molecular data

artículo científico publicado en 1992

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

artículo científico publicado en 2012

Maternal complication of pregnancy in Marfan syndrome

artículo científico publicado en 2008

Methotrexate and rheumatoid arthritis associated interstitial lung disease

artículo científico publicado en 2020

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

artículo científico publicado en 1989

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

artículo científico publicado en 2011

Molecular genetics of Marfan syndrome

artículo científico publicado en 2005

Molecular spectrum of autosomal dominant hypercholesterolemia in France

artículo científico publicado en 2010

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

artículo científico publicado en 2000

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol

artículo científico publicado en 2004

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

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

artículo científico publicado en 2016

No evidence of somatic FGFR3 mutation in various types of carcinoma.

artículo científico publicado en 2001

Nomograms for aortic root diameters in children using two-dimensional echocardiography

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 1992

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

artículo científico publicado en 2009

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

scientific article published on 15 March 2010

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

artículo científico publicado en 2005

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

scientific article published on 15 February 2008

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

artículo científico publicado en 2018

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

artículo científico publicado en 2011

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

artículo científico publicado en 2016

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

artículo científico publicado en 2000

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 1991

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

article

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

scientific article published on 07 February 2019

Reply to "The question of heterogeneity in Marfan syndrome"

artículo científico publicado en 1995

Reply to Gilchrist.

artículo científico publicado en 1994

Report of the sixth international workshop on human chromosome 3 mapping 1995

artículo científico publicado en 1996

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

artículo científico publicado en 2006

STAT4is a genetic risk factor for systemic sclerosis having additive effects withIRF5on disease susceptibility and related pulmonary fibrosis

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis.

artículo científico publicado en 1995

Software and database for the analysis of mutations in the human FBN1 gene

artículo científico publicado en 1996

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

artículo científico publicado en 1997

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

article

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

The UMD-LDLR database: additions to the software and 490 new entries to the database.

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

The revised ghent nosology; reclassifying isolated ectopia lentis.

artículo científico publicado en 2014

The translational science of Marfan syndrome.

artículo científico publicado en 2011

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

scientific article published on 01 June 1993

UMD (Universal Mutation Database): 2005 update

artículo científico publicado en 2005

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

artículo científico publicado en 2000

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

artículo científico publicado en 2009

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

artículo científico publicado en 2003

Updating the genetics of systemic sclerosis.

artículo científico publicado en 2010

Use of overlap frequencies between normal and pathological ranges to compare affinity chromatography with ion-exchange chromatography for determining glycated hemoglobins

scientific article published on 01 September 1988

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

artículo científico publicado en 2018

Value of multidisciplinary consultation in diagnosis and survival of Marfan syndrome

artículo científico publicado en 1998

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

artículo científico publicado en 2016

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

scientific article published on 13 November 2012

Wytyczne ESC dotyczące rozpoznawania i leczenia chorób aorty w 2014 roku

article

[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]

artículo científico publicado en 2015

[Aortic aneurysms excluding Marfan's syndrome]

artículo científico publicado en 2003

[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]

artículo científico publicado en 1997

[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy]

scientific article published on 01 September 1989

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

artículo científico publicado en 2013

[Fibrillin network in normal bone tissue]

artículo científico publicado en 2000

[Genetics and pathophysiology of systemic sclerosis]

[Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society]

artículo científico publicado en 2015

[Interactions between fibrillin-1 and tgf-beta: consequences and human pathology]

artículo científico publicado en 2009

[Marfan syndrome]

scientific article published on 01 November 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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