| Diagnosis and management of Silver–Russell syndrome: first international consensus statement EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ... Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 480 | 2017 |
| Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 395 | 2018 |
| Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance F Brioude, A Lacoste, I Netchine, MP Vazquez, F Auber, G Audry, ... Hormone research in paediatrics 80 (6), 457-465, 2014 | 172 | 2014 |
| SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development J Young, C Metay, J Bouligand, B Tou, B Francou, L Maione, L Tosca, ... Human Reproduction 27 (5), 1460-1465, 2012 | 159 | 2012 |
| CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome F Brioude, I Oliver-Petit, A Blaise, F Praz, S Rossignol, M Le Jule, ... Journal of medical genetics 50 (12), 823-830, 2013 | 152 | 2013 |
| Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships F Brioude, J Bouligand, S Trabado, B Francou, S Salenave, P Kamenicky, ... European Journal of Endocrinology 162 (5), 835-851, 2010 | 134 | 2010 |
| Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction W Abi Habib, F Brioude, T Edouard, JT Bennett, A Lienhardt-Roussie, ... Genetics in Medicine 20 (2), 250-258, 2018 | 130 | 2018 |
| Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nature Reviews Endocrinology 14 (4), 229-249, 2018 | 103 | 2018 |
| CDKN1C mutations: two sides of the same coin T Eggermann, G Binder, F Brioude, ER Maher, P Lapunzina, MV Cubellis, ... Trends in Molecular Medicine, 2014 | 96 | 2014 |
| Sleep disordered breathing in patients with Prader–Willi syndrome: a multicenter study M Pavone, V Caldarelli, S Khirani, M Colella, A Ramirez, G Aubertin, ... Pediatric pulmonology 50 (12), 1354-1359, 2015 | 86 | 2015 |
| EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome K Eggermann, J Bliek, F Brioude, E Algar, K Buiting, S Russo, Z Tümer, ... European Journal of Human Genetics 24 (10), 1377-1387, 2016 | 82 | 2016 |
| Overgrowth syndromes—clinical and molecular aspects and tumour risk F Brioude, A Toutain, E Giabicani, E Cottereau, V Cormier-Daire, ... Nature Reviews Endocrinology 15 (5), 299-311, 2019 | 81 | 2019 |
| Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization F Brioude, I Netchine, F Praz, M Le Jule, C Calmel, D Lacombe, P Edery, ... Human mutation 36 (9), 894-902, 2015 | 80 | 2015 |
| Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in … W Abi Habib, S Azzi, F Brioude, V Steunou, N Thibaud, CD Neves, ... Human molecular genetics 23 (21), 5763-5773, 2014 | 75 | 2014 |
| Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling T Eggermann, F Brioude, S Russo, MP Lombardi, J Bliek, ER Maher, ... European journal of human genetics 24 (6), 784-793, 2016 | 59 | 2016 |
| Chromosome 14q32. 2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell syndrome S Geoffron, W Abi Habib, S Chantot-Bastaraud, B Dubern, V Steunou, ... The Journal of Clinical Endocrinology & Metabolism 103 (7), 2436-2446, 2018 | 58 | 2018 |
| Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and … F Brioude, J Bouligand, B Francou, J Fagart, R Roussel, S Viengchareun, ... PLoS One 8 (1), e53896, 2013 | 55 | 2013 |
| Nomenclature and definition in asymmetric regional body overgrowth JM Kalish, LG Biesecker, F Brioude, MA Deardorff, A Di Cesare‐Merlone, ... American Journal of Medical Genetics Part A 173 (7), 1735-1738, 2017 | 49 | 2017 |
| Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15. 5 duplications with associated phenotypes and putative functional consequences S Heide, S Chantot-Bastaraud, B Keren, MD Harbison, S Azzi, ... Journal of medical genetics 55 (3), 205-213, 2018 | 48 | 2018 |
| Complex Tissue‐Specific Epigenotypes in R ussell–S ilver Syndrome Associated with 11p15 ICR 1 Hypomethylation S Azzi, A Blaise, V Steunou, MD Harbison, J Salem, F Brioude, ... Human mutation 35 (10), 1211-1220, 2014 | 44 | 2014 |
Irene NetchineProfesseur de Physiologie, Sorbonne Université在 trs.aphp.fr 的电子邮件经过验证
