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Irene Netchine
Irene Netchine
Professeur de Physiologie, Sorbonne Université
Verified email at trs.aphp.fr
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Cited by
Year
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
6132005
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
469*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
4632017
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
4452000
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
3242001
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
3172007
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
2562009
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
2552019
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
2312011
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
2102015
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
1872015
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
1781997
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
1732014
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
1662009
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
1652005
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
1551998
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
1551998
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
1502013
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
1462010
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
1332011
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