Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders D Attias, C Stheneur, C Roy, G Collod-Béroud, D Detaint, L Faivre, ... Circulation 120 (25), 2541-2549, 2009 | 280 | 2009 |
Cardiovascular manifestations in men and women carrying a FBN1 mutation D Détaint, L Faivre, G Collod-Beroud, AH Child, BL Loeys, C Binquet, ... European heart journal 31 (18), 2223-2229, 2010 | 213 | 2010 |
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 L Faivre, A Masurel-Paulet, G Collod-Beroud, BL Callewaert, AH Child, ... Pediatrics 123 (1), 391-398, 2009 | 211 | 2009 |
Nomograms for aortic root diameters in children using two-dimensional echocardiography M Gautier, D Detaint, C Fermanian, P Aegerter, G Delorme, F Arnoult, ... The American journal of cardiology 105 (6), 888-894, 2010 | 208 | 2010 |
The new Ghent criteria for Marfan syndrome: what do they change? L Faivre, G Collod‐Beroud, L Adès, E Arbustini, A Child, BL Callewaert, ... Clinical genetics 81 (5), 433-442, 2012 | 158 | 2012 |
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands L Faivre, G Collod-Beroud, A Child, B Callewaert, BL Loeys, C Binquet, ... Journal of medical genetics 45 (6), 384-390, 2008 | 154 | 2008 |
L’achondroplasie: du génotype au phénotype P Richette, T Bardin, C Stheneur Revue du rhumatisme 75 (5), 405-411, 2008 | 140 | 2008 |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene C Stheneur, G Collod-Béroud, L Faivre, JF Buyck, L Gouya, JM Le Parc, ... European Journal of Human Genetics 17 (9), 1121-1128, 2009 | 119 | 2009 |
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys … C Stheneur, G Collod‐Béroud, L Faivre, L Gouya, G Sultan, JM Le Parc, ... Human mutation 29 (11), E284-E295, 2008 | 117 | 2008 |
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, ... European Journal of Human Genetics 17 (4), 491-501, 2009 | 90 | 2009 |
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability M Aubart, S Gazal, P Arnaud, L Benarroch, MS Gross, J Buratti, A Boland, ... European Journal of Human Genetics 26 (12), 1759-1772, 2018 | 84 | 2018 |
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year C Stheneur, L Faivre, G Collod-Béroud, E Gautier, C Binquet, ... Pediatric Research 69 (3), 265-270, 2011 | 78 | 2011 |
Medication in AN: a multidisciplinary overview of meta-analyses and systematic reviews C Blanchet, S Guillaume, F Bat-Pitault, ME Carles, J Clarke, V Dodin, ... Journal of clinical medicine 8 (2), 278, 2019 | 76 | 2019 |
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele M Aubart, MS Gross, N Hanna, MT Zabot, M Sznajder, D Detaint, L Gouya, ... Human Molecular Genetics 24 (10), 2764-2770, 2015 | 72 | 2015 |
Renal complications in anorexia nervosa C Stheneur, S Bergeron, AL Lapeyraque Eating and Weight Disorders-Studies on Anorexia, Bulimia and Obesity 19, 455-460, 2014 | 65 | 2014 |
Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition C Stheneur, F Tubach, M Jouneaux, C Roy, G Benoist, B Chevallier, ... Genetics in Medicine 16 (3), 246-250, 2014 | 65 | 2014 |
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on … L Faivre, G Collod‐Beroud, B Callewaert, A Child, BL Loeys, C Binquet, ... American Journal of Medical Genetics Part A 149 (5), 854-860, 2009 | 56 | 2009 |
Basic fibroblast growth factor as a selective inducer of matrix Gla protein gene expression in proliferative chondrocytes C Stheneur, MF Dumontier, C Guedes, MC Fulchignoni-Lataud, K Tahiri, ... Biochemical Journal 369 (1), 63-70, 2003 | 46 | 2003 |
Iron metabolism in patients with anorexia nervosa: elevated serum hepcidin concentrations in the absence of inflammation S Papillard-Marechal, M Sznajder, M Hurtado-Nedelec, Y Alibay, ... The American journal of clinical nutrition 95 (3), 548-554, 2012 | 45 | 2012 |
The bulle: support and prevention of psychological decompensation of health care workers during the trauma of the COVID-19 epidemic H Lefèvre, C Stheneur, C Cardin, L Fourcade, C Fourmaux, E Tordjman, ... Journal of pain and symptom management 61 (2), 416-422, 2021 | 38 | 2021 |