Equipe Biostatistiques Santé

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Affichage des publications 1 à 30 sur 79 au total

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs

S. Gaillard, L. Roche, S. Lemoine, G. Deschênes, D. Morin, C. Vianey-Saban...

Pediatric Nephrology . 36 ( 3 ) : 581-589

DOI: 10.1007/s00467-020-04722-0

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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Oriane Marmontel, Pierre Antoine Rollat‐farnier, Anne‐sophie Wozny, Sybil Charrière, Xavier Vanhoye, Thomas Simonet...

Clinical Genetics . 98 ( 6 ) : 589-594

DOI: 10.1111/cge.13832

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PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G

Charlotte Decourt, Alexandre Janin, Marine Moindrot, Nicolas Chatron, Séverine Nony, Manon Muntaner...

Atherosclerosis . 314 : 63-70

DOI: 10.1016/j.atherosclerosis.2020.10.010

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

N. Chatron, G. Giannuzzi, P. Rollat-Farnier, F. Diguet, E. Porcu, T. Yammine...

European Journal of Human Genetics . 28 ( SUPPL 1 ) : 5-6

DOI: 10.1038/s41431-020-00740-6

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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere...

Orphanet Journal of Rare Diseases . 15 ( 1 ) : 254

DOI: 10.1186/s13023-020-01533-2

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Alexandre Belot, Gillian Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews...

The Lancet Rheumatology . 2 ( 2 ) : e99-e109

DOI: 10.1016/S2665-9913(19)30142-0

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In vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters

Samia Selmi-Ruby, Jesús Marín-Sáez, Aurélie Fildier, Audrey Buleté, Myriam Abdallah, Jessica Garcia...

Environmental Health Perspectives . 128 ( 12 )

DOI: 10.1289/EHP6826

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Prevalence of obesity among adult inpatients with COVID-19 in France

C. Caussy, F. Pattou, F. Wallet, C. Simon, S. Chalopin, C. Telliam...

The lancet. Diabetes & endocrinology . 8 ( 7 ) : 562--564

DOI: 10.1016/s2213-8587(20)30160-1

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Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐michel Dupont...

Molecular Genetics & Genomic Medicine . : 1-10

DOI: 10.1002/mgg3.1114

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Alexandre Belot, Gillian Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews...

The Lancet Rheumatology . 2 ( 2 ) : e99-e109

DOI: 10.1016/S2665-9913(19)30142-0

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Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story

Ségolène Gaillard, Laurent Roche, Georges Deschênes, Denis Morin, Christine Vianey-Saban, Cécile Acquaviva-Bourdain...

Therapie . 75 ( 2 ) : 169--173

DOI: 10.1016/j.therap.2020.02.008

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A simplified table using validated diagnostic criteria is effective to improve characterization of colorectal polyps: the CONECCT teaching program

Martin Fabritius, Jean-Michel Gonzalez, Aymeric Becq, Xavier Dray, Emmanuel Coron, Lucie Brenet-Defour...

Endoscopy International Open . 07 ( 10 ) : E1197-E1206

DOI: 10.1055/a-0962-9737

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Bench Assessment of the Effect of a Collapsible Tube on the Efficiency of a Mechanical Insufflation-Exsufflation Device

Romain Lachal, Bruno Louis, Fabien Subtil, Claude Guérin

Respiratory Care . 64 ( 7 ) : 752 - 759

DOI: 10.4187/respcare.06478

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Endoscopic mucosal resection with anchoring of the snare tip: multicenter retrospective evaluation of effectiveness and safety

Mathieu Pioche, Timothée Wallenhorst, Hugo Lepetit, Vincent Lépilliez, Jérôme Rivory, Romain Legros...

Endoscopy International Open . 07 : E1496 - E1502

DOI: 10.1055/a-0990-9068

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Botulinum toxin for the treatment of hypercontractile esophagus: Results of a double‐blind randomized sham‐controlled study

Adrien Choné, Pietro Familiari, Burkhard von Rahden, Pankaj Desai, Haruhiro Inoue, Yuto Shimamura...

Neurogastroenterology & Motility . 31 ( 5 ) : e13587

DOI: 10.1111/nmo.13587

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A 40 months follow-up of Ebola virus disease survivors in Guinea (Postebogui) reveals long-term detection of Ebola viral Ribonucleic Acid in semen and breast milk

Alpha Kabinet Keita, Nicole Vidal, Abdoulaye Touré, Mamadou Saliou Kalifa Diallo, N'Fally Magassouba, Sylvain Baize...

Open Forum Infectious Diseases . 6 ( 12 ) : ofz482

DOI: 10.1093/ofid/ofz482

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Obinutuzumab and ibrutinib induction therapy followed by a minimal residual disease-driven strategy in patients with chronic lymphocytic leukaemia (ICLL07 FILO): a single-arm, multicentre, phase 2 trial

Anne-Sophie Michallet, Marie-Sarah Dilhuydy, Fabien Subtil, Valérie Rouillé, Béatrice Mahé, Kamel Laribi...

The Lancet Haematology . 6 ( 9 ) : e470-e479

DOI: 10.1016/S2352-3026(19)30113-9

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A Bayesian method to estimate the optimal threshold of a marker used to select patients' treatment

Yoann Blangero, Muriel Rabilloud, René Ecochard, Fabien Subtil

Statistical Methods in Medical Research . : 096228021882139

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Compositional and mechanical properties of growing cortical bone tissue: a study of the human fibula

Emmanuelle Lefevre, Delphine Farlay, Yohann Barla, Fabien Subtil, Uwe Wolfram, Sébastien Rizzo...

Scientific Reports .

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Multicenter Evaluation of Clinical Efficacy and Safety of Per-Oral Endoscopic Myotomy in Children

A. Chone, P. Familiari, B. Rahden, P. Desai, H. Inoue, Y. Shimamura...

Journal of Pediatric Gastroenterology and Nutrition .

DOI: 10.1097/mpg.0000000000002432

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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert‐desurmont, Claire Bardel, Marie‐pierre Buisine...

Human Mutation . 40 ( 11 ) : 1993-2000

DOI: 10.1002/humu.23845

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar...

Journal of Medical Genetics . 56 ( 8 ) : 526-535

DOI: 10.1136/jmedgenet-2018-105778

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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stephanie Baert-Desurmont, Claire Bardel, Marie Pierre Buisine...

Human Mutation .

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Les patients scoliotiques ont-ils un besoin de traitement orthodontique augmenté ? Une étude comparative sur 104 cas

Camille Servant, Emmanuelle Garnier, Fabien Subtil, Sarah Gebeile-Chauty

Orthodontie Française . 89 ( 4 ) : 355-363

DOI: 10.1051/orthodfr/2018028

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On-Demand Sildenafil as a Treatment for Raynaud Phenomenon

Matthieu Roustit, Joris Giai, Olivier Gaget, Charles Khouri, Myriam Mouhib, Adrien Lotito...

Annals of Internal Medicine . 169 ( 10 ) : 694

DOI: 10.7326/M18-0517

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Unequal intra-group variance in trajectory classification

Amna Klich, René Ecochard, Fabien Subtil

Statistics in Medicine . 37 ( 28 ) : 4155-4166

DOI: 10.1002/sim.7921

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Geriatric analysis from PRODIGE 20 randomized phase II trial evaluating bevacizumab + chemotherapy versus chemotherapy alone in older patients with untreated metastatic colorectal cancer

T. Aparicio, O. Bouché, E. Francois, F. Retornaz, E. Barbier, J. Taieb...

European Journal of Cancer . 97 : 16-24

DOI: 10.1016/j.ejca.2018.03.030

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Effect of Optimal Medical Therapy at Discharge in Patients With Reperfused ST-Segment Elevation Myocardial Infarction on 1-Year Mortality (from the Regional RESCUe Registry)

Danka Tomasevic, Carlos El Khoury, Fabien Subtil, Pierre-Yves Dubien, Thomas Bochaton, Patrice Serre...

American Journal of Cardiology . 121 ( 4 ) : 403-409

DOI: 10.1016/j.amjcard.2017.11.002

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Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy

Oriane Marmontel, Sybil Charriere, T. Simonet, V. Bonnet, S. Dumont, M. Mahl...

Clinical Genetics . 94 ( 1 ) : 132-140

DOI: 10.1111/cge.13250

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