E. Gautier

发表

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

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

P. Robinson, E. Arbustini, U. Francke, 2009, Pediatrics.

Periodontal disorders in a cohort of patients with Cohen syndrome.

L. Faivre, L. Laforest, E. Gautier, 2020, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

M. Desnos, C. Bonithon-Kopp, J. Thevenon, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical genetics.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Julie C. Sapp, L. Biesecker, Julie Harris, 2018, Genetics in Medicine.

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

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

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.

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

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

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

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

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

C. Lejeune, R. Boidot, J. Thevenon, 2019, European journal of medical genetics.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

E. Blair, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular genetics.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

[Genetic testing in asymptomatic minors: a survey among French geneticists].

A. Dürr, L. Faivre, C. Thauvin-Robinet, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

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

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

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

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.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.

L. Faivre, C. Thauvin-Robinet, O. Putois, 2019, European journal of medical genetics.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human 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.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

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 .

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.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

L. Biesecker, Julie Harris, R. Loffroy, 2018, Genetics in Medicine.

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.

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN 1 mutations

P. Robinson, D. Halliday, C. Béroud, 2019 .

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

R. Boidot, A. Baurand, G. Bertolone, 2023, Cancer medicine.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

C. Béroud, G. Collod-Béroud, A. De Paepe, 2010, European heart journal.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

C. Thauvin-Robinet, A. Bertaut, C. Cabrol, 2023, European Journal of Medical Genetics.