G. Rault

发表

The Reconfiguration of the Relationship to Care for a Rare Disease: Neonatal Expended Screening in a Socio-material Perspective

P. Lombrail, Chloé Langeard, Guy Minguet, 2013 .

Introduction of a collaborative quality improvement program in the French cystic fibrosis network: the PHARE-M initiative

P. Lombrail, Guy Minguet, G. Rault, 2018, Orphanet Journal of Rare Diseases.

Strategies for care quality improvement in Cystic Fibrosis

P. Lombrail, G. Rault, 2018, Orphanet Journal of Rare Diseases.

Modulating Innate and Adaptive Immunity by (R)-Roscovitine: Potential Therapeutic Opportunity in Cystic Fibrosis

L. Meijer, A. Kulkarni, R. Gray, 2016, Journal of Innate Immunity.

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.

Use of Home-Based Connected Devices in Patients With Cystic Fibrosis for the Early Detection and Treatment of Pulmonary Exacerbations: Protocol for a Qualitative Study

C. Alberti, E. Le Roux, R. Gagnayre, 2021, JMIR research protocols.

Safety and pharmacokinetics of Roscovitine (Seliciclib) in cystic fibrosis patients chronically infected with Pseudomonas aeruginosa, a randomized, placebo-controlled study.

L. Meijer, S. Leroy, S. Hillion, 2021, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

European Cystic Fibrosis Society Standards of Care :

M. Corey, C. Goss, C. Castellani, 2014 .

Use of denaturing high-performance liquid chromatography (DHPLC) to characterize the bacterial and fungal airway microbiota of cystic fibrosis patients

J. Mounier, G. Barbier, Grégory Pacini, 2014, Journal of Microbiology.

Collaborative research protocol to define patient-reported experience measures of the cystic fibrosis care pathway in France: the ExPaParM study

P. Lombrail, J. Haesebaert, C. Llerena, 2021, Orphanet Journal of Rare Diseases.

Lessons from the on-site quality audit of data transmitted to the French cystic fibrosis registry

L. Guéganton, G. Rault, D. Pougheon Bertrand, 2018, Orphanet Journal of Rare Diseases.

Proposal of a quantitative PCR-based protocol for an optimal Pseudomonas aeruginosa detection in patients with cystic fibrosis

R. Le Berre, S. Boisramé-Gastrin, G. Héry-Arnaud, 2013, BMC Microbiology.

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome

C. Sultan, P. Niaudet, C. Turleau, 2004, Human Genetics.

AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

P. Böelle, P. Reix, J. Dalphin, 2012, PloS one.

Insights into the respiratory tract microbiota of patients with cystic fibrosis during early Pseudomonas aeruginosa colonization

J. Jansson, J. Mounier, G. Burgaud, 2015, SpringerPlus.

Impact of the CFTR-Potentiator Ivacaftor on Airway Microbiota in Cystic Fibrosis Patients Carrying A G551D Mutation

J. Mounier, C. Férec, G. Barbier, 2015, PloS one.

CFTR biomarkers: time for promotion to surrogate end-point

M. Amaral, N. Derichs, M. Proesmans, 2012, European Respiratory Journal.

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

M. Patton, M. Claustres, D. Bozon, 1999, Human Genetics.

Cystic fibrosis mortality trends in France.

A. Parant, G. Bellis, G. Rault, 2007, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

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

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations

C. Férec, M. Audrézet, M. Blayau, 2007, Journal of Inherited Metabolic Disease.

Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels?

C. Férec, M. Audrézet, H. Journel, 2006, Pediatrics.

Cystic Fibrosis Mutations: Report from the French Registry

J. Feingold, M. Guilloud‐Bataille, G. Rault, 1999, Human Heredity.

Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease.

S. Leroy, P. Burgel, D. Grenet, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Pulmonary outcome differences in U.S. and French cystic fibrosis cohorts diagnosed through newborn screening.

C. Férec, P. Farrell, Zhanhai Li, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Investigation of Stenotrophomonas maltophilia epidemiology in a French cystic fibrosis center.

P. Saliou, G. Héry-Arnaud, G. Rault, 2020, Respiratory medicine and research.

European Cystic Fibrosis Society Standards of Care: Quality Management in cystic fibrosis.

Laura Viviani, Mary Corey, M. Corey, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

C. Férec, M. Audrézet, M. Blayau, 2003, Human Genetics.

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

C. Férec, M. Audrézet, B. Mercier, 1995, Human Genetics.

Microbiologic contamination study of nebulizers after aerosol therapy in patients with cystic fibrosis.

J. Lemeland, F. Brémont, J. Derelle, 2000, American journal of infection control.

Failure of expression of alpha-3-L-fucosyltransferase in human serum is coincident with the absence of the X (or Le(x)) antigen in the kidney but not on leucocytes.

M. Ventura, J. Le Pendu, R. Oriol, 1988, Experimental and clinical immunogenetics.

Pseudomonas aeruginosa and Periodontal Pathogens in the Oral Cavity and Lungs of Cystic Fibrosis Patients: a Case-Control Study

G. Barbier, G. Héry-Arnaud, S. Gouriou, 2015, Journal of Clinical Microbiology.

Costs and health-related quality of life of patients with cystic fibrosis and their carers in France.

K. Chevreul, G. Rault, M. Michel, 2015, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis?

L. Misery, G. Rault, A. Roguedas-Contios, 2010, The British journal of dermatology.

Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

C. Férec, P. Saliou, M. Audrézet, 2012, Orphanet Journal of Rare Diseases.

Pneumocystis jirovecii and Cystic Fibrosis in Brittany, France

J. Bihan, C. Belleguic, G. Nevez, 2018, Mycopathologia.

Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up.

E. Leray, I. Pin, D. Turck, 2010, The Journal of pediatrics.

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2000, The Lancet.

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

E. Génin, C. Férec, M. Audrézet, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: A 10‐year retrospective study in a French region (Brittany)

B. Branger, G. Bretaudeau, D. Siret, 2003, Pediatric pulmonology.

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)

G. Bellis, M. Braekeleer, G. Rault, 2004, Journal of Human Genetics.

Neonatal Screening for Cystic Fibrosis in Brittany, France: Assessment of 10 Years’ Experience and Impact on Prenatal Diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2001 .

Identification of 12 novel mutations in the CFTR gene.

C. Férec, M. Audrézet, B. Mercier, 1993, Human molecular genetics.

Using registry data to improve quality of care.

G. Rault, D. Bertrand, Kieran McIntyre, 2018, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Reproductive attitudes of couples having a child with cystic fibrosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).

G. Bellis, G. Rault, M. de Braekeleer, 2000, Annales de genetique.

Association of 1078 del T cystic fibrosis mutation with severe disease.

M. Audrézet, B. Mercier, I. Quéré, 1994, Journal of medical genetics.

Evaluation of quantitative PCR for early diagnosis of Pseudomonas aeruginosa infection in cystic fibrosis: a prospective cohort study.

C. Férec, R. Berre, G. Le Gal, 2017, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

A conceptual framework to develop a patient-reported experience questionnaire on the cystic fibrosis journey in France: the ExPaParM collaborative study

P. Lombrail, J. Haesebaert, C. Llerena, 2023, Orphanet Journal of Rare Diseases.

Quality of care in cystic fibrosis: assessment protocol of the French QIP PHARE-M

G. Rault, D. Pougheon Bertrand, E. Nowak, 2018, Orphanet Journal of Rare Diseases.

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960

C. Férec, M. Audrézet, G. Bellis, 2002, Human Genetics.

A I A A 96-0316 Aerothermodynamic Analysis o Corn mercia I Experiment Transporter (COMET) Reentry Capsule

P. Gnoffo, W. Wood, G. Rault, 2004 .

Cystic fibrosis: production of high levels of uromodulin-like protein by HLA-DR blood monocytes differentiating towards a fibroblastic phenotype.

G. Rault, M. Jehanne, G. Milhaud, 1991, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Porphyromonas, a potential predictive biomarker of Pseudomonas aeruginosa pulmonary infection in cystic fibrosis

J. Mounier, P. Lepage, C. Férec, 2019, BMJ Open Respiratory Research.

Experiences Among Patients With Cystic Fibrosis in the MucoExocet Study of Using Connected Devices for the Management of Pulmonary Exacerbations: Grounded Theory Qualitative Research

R. Gagnayre, V. David, G. Rault, 2022, JMIR formative research.

[Laron's syndrome with clinical appearance of the so-called Michelin baby].

G. Geoffroy, Y. de Prost, G. Rault, 1984, Annales de dermatologie et de venereologie.

Disease knowledge in a high-risk population for cystic fibrosis.

G. Bellis, M. Braekeleer, G. Rault, 2001, Patient education and counseling.

Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease.

S. Leroy, P. Burgel, D. Grenet, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

B. Dallapiccola, G. Lenoir, L. Kalaydjieva, 1993, Genomics.