| Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome C Gicquel, S Rossignol, S Cabrol, M Houang, V Steunou, V Barbu, ... Nature genetics 37 (9), 1003-1007, 2005 | 613 | 2005 |
| 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 | 470* | 2018 |
| 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 | 463 | 2017 |
| Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency I Netchine, ML Sobrier, H Krude, D Schnabel, M Maghnie, E Marcos, ... Nature genetics 25 (2), 182-186, 2000 | 446 | 2000 |
| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4 K Machinis, J Pantel, I Netchine, J Léger, OJA Camand, ML Sobrier, ... The American Journal of Human Genetics 69 (5), 961-968, 2001 | 324 | 2001 |
| 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic … I Netchine, S Rossignol, MN Dufourg, S Azzi, A Rousseau, L Perin, ... The Journal of Clinical Endocrinology & Metabolism 92 (8), 3148-3154, 2007 | 317 | 2007 |
| Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective PF Collett-Solberg, G Ambler, PF Backeljauw, M Bidlingmaier, BMK Biller, ... Hormone research in paediatrics 92 (1), 1-14, 2019 | 263 | 2019 |
| Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of … S Azzi, S Rossignol, V Steunou, T Sas, N Thibaud, F Danton, M Le Jule, ... Human molecular genetics 18 (24), 4724-4733, 2009 | 256 | 2009 |
| Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity A David, V Hwa, LA Metherell, I Netchine, C Camacho-Hübner, AJL Clark, ... Endocrine reviews 32 (4), 472-497, 2011 | 231 | 2011 |
| A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome S Azzi, J Salem, N Thibaud, S Chantot-Bastaraud, E Lieber, I Netchine, ... Journal of medical genetics 52 (7), 446-453, 2015 | 210 | 2015 |
| Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci T Eggermann, G Perez de Nanclares, ER Maher, IK Temple, Z Tümer, ... Clinical epigenetics 7, 1-18, 2015 | 189 | 2015 |
| Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesisd G Pinto, I Netchine, ML Sobrier, F Brunelle, JC Souberbielle, R Brauner The Journal of Clinical Endocrinology & Metabolism 82 (10), 3450-3454, 1997 | 179 | 1997 |
| 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 | 173 | 2014 |
| Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development I Netchine, S Azzi, M Houang, D Seurin, L Perin, JM Ricort, C Daubas, ... The Journal of Clinical Endocrinology & Metabolism 94 (10), 3913-3921, 2009 | 166 | 2009 |
| CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development G Pinto, V Abadie, R Mesnage, J Blustajn, S Cabrol, J Amiel, ... The Journal of Clinical Endocrinology & Metabolism 90 (10), 5621-5626, 2005 | 165 | 2005 |
| Human Prop-1: cloning, mapping, genomic structure: mutations in familial combined pituitary hormone deficiency P Duquesnoy, A Roy, F Dastot, I Ghali, C Teinturier, I Netchine, ... FEBS letters 437 (3), 216-220, 1998 | 155 | 1998 |
| Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene I Netchine, P Talon, F Dastot, F Vitaux, M Goossens, S Amselem The Journal of Clinical Endocrinology & Metabolism 83 (2), 432-436, 1998 | 155 | 1998 |
| 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 | 150 | 2013 |
| Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal … J Demars, ME Shmela, S Rossignol, J Okabe, I Netchine, S Azzi, S Cabrol, ... Human molecular genetics 19 (5), 803-814, 2010 | 146 | 2010 |
| IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development I Netchine, S Azzi, Y Le Bouc, MO Savage Best practice & research Clinical endocrinology & metabolism 25 (1), 181-190, 2011 | 133 | 2011 |
