Publications de l’équipe BNDMR

  1. Meriem Maaroufi.  Interopérabilité des données médicales dans le domaine des maladies rares dans un objectif de santé publique.  Calcul parallèle, distribué et partagé [cs.DC]. Thèse Université Pierre et Marie Curie – Paris VI, 2016.  Français. NNT : 2016PA066275
  2. R. Choquet, M. Maaroufi, Y. Fonjallaz, A. de Carrara, PY. Vandenbussche, F. Dhombres, P. Landais. LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems. AMIA Annual Symposium Proceedings. 2015;2015:434-440.
  3. M. Maaroufi, R. Choquet, P. Landais, MC. Jaulent. Towards data integration automation for the French rare disease registry. AMIA Annual Symposium Proceedings. 2015;2015:880-885.
  4. Meriem Maaroufi, Rémy Choquet, Paul Landais, Marie-Christine Jaulent. Formalizing Mappings to Optimize Automated Schema Alignment: Application to Rare Diseases, Stud Health Technol Inform. 2014;205:283-7. PubMed PMID: 25160191.
  5. Taruscio D. · Vittozzi L. · Choquet R. · Heimdal K. · Iskrov G. · Kodra Y. · Landais P. · Posada M. · Stefanov R. · Steinmueller C. · Swinnen E. · Van Oyen H. National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences, Public Health Genomics. 2015;18(1):20-5. doi: 10.1159/000365897. Epub 2014 Sep 9
  6. Rémy Choquet, Meriem Maaroufi, Albane de Carrara, Claude Messiaen, Emmanuel Luigi, Paul Landais. A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research. J Am Med Inform Assoc. 2015 Jan;22(1):76-85. doi: 10.1136/amiajnl-2014-002794. PubMed PMID: 25038198. Epub 2014 Jul 18.
  7. Rémy Choquet, Yannick Fonjallaz, Albane De Carrara, Meriem Maaroufi, Pierre-Yves Vandenbussche, Ferdinand Dhombres and Paul Landais. Un outil de visualisation de classifications et d’intégration de données pour faciliter le codage des maladies rares. Articles courts des 15es Journées francophones d’informatique médicale, JFIM 2014, pages 198–203, Fès, Maroc, 12–13 juin 2014.
  8. Rémy Choquet, Paul Landais, The French national registry for rare diseases: an integrated model from care to epidemiology and research. Présentation orale, 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014), 9 mai 2014, Berlin, Allemagne. Orphanet Journal of Rare Diseases 2014, 9(Suppl 1):O7. doi:10.1186/1750-1172-9-S1-O7
  9. Rémy Choquet, Messiaen, C., Priouzeau, A., De Carrara, A., Landais, P. Un jeu de données minimum pour faciliter l’interopérabilité des bases de données pour les maladies rares. Ingénierie des connaissances (IC2012), 2012, Paris (Vol. 2, pp. 1–6).
  10. Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon-Lanoy E, Gérard-Blanluet M, Bodemer C, Salomon R, Aymé S, Le Merrer M, Verloes A; CEMARA task force. CEMARA an information system for rare diseases. Stud Health Technol Inform. 2010;160(Pt 1):481-5. PubMed PMID: 20841733.
  11. Messiaen C, Le Mignot L, Rath A, Richard JB, Dufour E, Ben Said M, Jais JP, Verloes A, Le Merrer M, Bodemer C, Baujat G, Gerard-Blanluet M, Bourdon-Lanoy E, Salomon R, Ayme S, Landais P. CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform. 2008;136:51-6. PubMed PMID: 18487707.

Publications facilitées par l’infrastructure BNDMR

Cette liste ne présente pas les publications antérieures à 2011. Elle repose sur les déclarations faites en mars 2015 par les centres participants, à l’occasion de l’évaluation du PNMR2 par le Haut Conseil de l’évaluation de la recherche et de l’enseignement supérieur (HCERES). Elle est organisée par ordre alphabétique du nom du premier auteur pour les publications antérieures à 2016.
Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, Albarel F, Fèvre A, Kerlan V, Brue T, Delemer B, Borson-Chazot F, Carel JC, Chanson P, Léger J, Touraine P, Christin-Maitre S; for CMERC Center for Rare Disease. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum. Reprod. (2016) 31 (4): 782-788
Ait-El-Mkadem S, Fragaki K, Chaussenot A, Gire C, Mengual R, Bonesso L, Bénéteau M, Ricci J-E, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-Flucklinger V. Equal participation. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J Hum Genet 2013, 21:528-34
Aoun B, Dourthe ME, Davourie Salandre A, Souberbielle JC, Ulinski T. Do vitamin D plasma levels impact vaccine response in children with idiopathic nephrotic syndrome? Pediatr Nephrol. 2012. 27:2161-2.
Aoun B, Sanjad S, Schmitt CP, Kalkas G, Fakhoury H, Ulinski T. Response to steroids in early-onset nephrotic syndrome. Saudi J Kidney Dis Transpl. 2013. 24:590-1.
Aoun B, Schmitt CP, Ulinski T, Fakhoury H, Kalkas G, Sanjad S. Congenital nephrotic syndrome and nonsteroidal anti-inflammatory drugs. Indian J Nephrol. 2012; 22:152-3.
Audard V, Canaud G, Kofman T, Legendre C, Lang P, Grimbert P. Reccurrence from primary and secondary glomerulopathy after renal transplant. 2012. Transpl Int 25:812-24
Audard V, Kamar N, Sahali D, Cardeau-Desangles I, Homs S, Remy P, Aouizerate J, Matignon M, Rostaing L, Lang P, Grimbert P. Rituximab therapy prevents focal and segmental glomerulosclerosis recurrence after a second renal transplantation. 2012. Transpl Int. 25: e62-e66
Audard V, Pawlak A, Lang P, Sahali D. Upregulation of Nuclear Factor-Related Kappa B in Minimal Change Nephrotic Syndrome suggests a disorder of transcriptional regulation in the disease. 2012. PLos One. 7: e30523, 1-9.
Azib S, Macher MA, Kwon T, Dechartres A, Alberti C, Loirat C, Deschênes G, Baudouin V. Cyclophosphamide in steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2011. 26: 927-32
Bachelot A, Chakhtoura Z, Plu-Bureau G, Coudert M, Coussieu C, Badachi Y, et al. Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia. Eur J Endocrinol 2012;167:499-505
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Equal participation. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014, 137: 2329-45
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. Brain. 2015 Feb 12 pii: awv015
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Reply: CHCHD10 mutations in Italian sporadic ALS patients. Brain 2015 Jan 8. pii: awu385
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis ? Brain 2014 Dec;137(Pt 12):e314
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 2014 Dec;137(Pt 12):e312
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu Wai Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a motor neuron disease gene. Brain 2014 Dec;137(Pt 12):e310
Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot C, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Bonnefont JP, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet 2013, Jul 11
Baudouin V, Alberti C, Lapeyraque AL, Bensman A, André JL, Broux F, Cailliez M, Decramer S, Niaudet P, Deschênes G, Jacqz-Aigrain E, Loirat C. Mycophenolate mofetil for steroid-dependent nephrotic syndrome: a phase II Bayesian trial. Pediatr Nephrol. 2012 27:389-96.
Bernstein L E, Helm J R, Rocha J C, Almeida M F, Feillet F, Link R M, Gizewska M. Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys. Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2014;27 Suppl 2:4-11.
Bidet M, Bachelot A, Bissauge E, Golmard JL, Gricourt S, Dulon J, et al. Resumption of ovarian function and pregnancies in 358 patients with premature ovarian failure. J Clin Endocrinol Metab 2011;96:3864-72.
Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C. NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat. 2014. 35:178-86
Bouilly J, Bachelot A, Broutin I, Touraine P, Binart N. Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum Mutat 2011;32:1108-13
Bourion-Bedes S, Baumann C, Kermarrec S, Ligier F, Feillet F, Bonnemains C, et al. Prognostic value of early therapeutic alliance in weight recovery: a prospective cohort of 108 adolescents with anorexia nervosa. The Journal of adolescent health : official publication of the Society for Adolescent Medicine 2013;52:344-50.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny H O, Guffon N, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Molecular genetics and metabolism 2011;103:341-8.
Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, et al. Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Molecular genetics and metabolism 2012;107:438-47.
Boyer O, Benoit G, Gribouval O, Tete MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Legendre C, Grünfeld JP, Gubler MC, Broutin I, Mollet G, Antignac C. Mutations in INF2 are a major cause of Autosomal Dominant FSGS. J Am Soc Nephrol 2011;22:239-45.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, […],Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. INF2 Mutations in Charcot-Marie-Tooth Disease with Glomerulopathy. N Engl J Med 2011;365:2377-88.
Boyer O, Niaudet P. Rituximab in childhood steroid-dependent nephrotic syndrome. Nat Rev Nephrol 2013;9:562-3.
Boyer O, Woerner S, Yang F, […], Chibout SD, Antignac C. LMX1B mutations as unexpected causes of hereditary FSGS without extra-renal involvement. J Am Soc Nephrol 2013;4:1216-22.
Boyer O. Syndromes néphrotiques génétiques. Néphrologie pédiatrique, Cochat P, Doin 2011:203-206.
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Journal of medical genetics 2013;50:255-63.
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group.Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207.
Chakhtoura Z, Touraine P. Fertilité chez les femmes ayant un syndrome de Turner. Presse Med 2013;42:1508-12.
Chakhtoura Z, Vigoureux S, Courtillot C, Tejedor I, Touraine P. Vulvar lichen sclerosus is very frequent in women with Turner syndrome. J Clin Endocrinol Metab 2014;99:1103-4.
Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G, The French research network on FTD and FTD-ALS, Brice A, Pouget J, Paquis-Flucklinger V. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in FTD-ALS. Neurobiology of Aging 2014 Dec;35(12):2884.e1-4
Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, Chabrol B, Vialettes B, Paquis-Flucklinger V. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. Clin Genet 2014 May 29.doi:10.1111/cge.12437.
Chery C, Hehn A, Mrabet N, Oussalah A, Jeannesson E, Besseau C, et al. Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. Biochimie 2013;95:995-1001.
Cleary M, Trefz F, Muntau A C, Feillet F, van Spronsen F J, Burlina A, et al. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Molecular genetics and metabolism 2013;110:418-23.
Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Boyer O, […], Funalot B, Moncla A, Bonneau D, Antignac C. Loss of function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome (Galloway-Mowat syndrome). Am J Hum Genet 2014;95:637-48
Cong EH, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, […],Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C. A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS. J Am Soc Nephrol 2014;25:2435-43
Courtillot C, Baudoin R, Du Souich T, Saatdjian L, Tejedor I, Pinto G, et al. Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition. Eur J Endocrinol 2013;169:587-96.
Courtillot C, Baudoin R, Du Souich T, Saatdjian L, Tejedor I, Pinto G, Léger J, Polak M, Golmard JL, Touraine P, Transition GHD Group. Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition. Eur J Endocrinol. 2013 Oct 1;169(5):587-96.
Danecka M K, Woidy M, Zschocke J, Feillet F, Muntau A C, Gersting S W. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. Journal of medical genetics 2015;52:175-85.
Delbe-Bertin L, Aoun B, Tudorache E, Lapillone H, Ulinski T. Does rituximab induce hypogammaglobulinemia in patients with pediatric idiopathic nephrotic syndrome? Pediatr Nephrol. 2013. 28:447-51.
Deschênes G. [Idiopathic nephrotic syndrome in children: from corticosteroids to rituximab]. Arch Pediatr. 2011. 18:843-5.
Ding WY, Koziell A, McCarthy HJ, Bierzynska A, Bhagavatula MK, […], Coward RJ, Tizard J, Reid C, Antignac C, Boyer O, Saleem MA. Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence. J Am Soc Nephrol 2014;25:1342-8.
Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara-Boustani D, Salenave S, Monnier-Cholley L, Meuleman C, Jondeau G, Iserin L, Duranteau L, Cabanes L, Bourcigaux N, Bonnet D, Bouchard P, Chanson P, Polak M, Touraine P, Lebouc Y, Carel JC, Léger J, Christin-Maitre S. Cardiovascular findings and management in Turner syndrome: insights from a French cohort. Eur J Endocrinol 2012 Oct;167(4):517-22.
Dossier C, Sellier-Leclerc AL, Rousseau A, Michel Y, Gautheret-Dejean A, Englender M, Madhi F, Charbit M, Ulinski T, Simon T, Jacqz-Aigrain E, Deschênes G. Prevalence of herpesviruses at onset of idiopathic nephrotic syndrome. Pediatr Nephrol. 2014. 29: 2325-31.
Dupre T, Vuillaumier-Barrot S, Chantret I, Yaye H S, Le Bizec C, Afenjar A, et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. Journal of medical genetics 2010;47:729-35.
Elie V, Fakhoury M, Deschênes G, Jacqz-Aigrain E. Physiopathology of idiopathic nephrotic syndrome: lessons from glucocorticoids and epigenetic perspectives. Pediatr Nephrol. 2012 .27:1249-56.
Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjærg L, Barrett TG. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. BMC Pediatr 2013, 13:130.
Feillet F, Bonnemains C. [Phenylketonuria: new treatments]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2013;20:1165-8.
Feillet F, Chabrol B, Sarles J, Roussey M. [Neonatal screening facing progresses of biology]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2014;21:816-20.
Feillet F, Muntau A C, Debray F G, Lotz-Havla A S, Puchwein-Schwepcke A, Fofou-Caillierez M B, et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. Journal of inherited metabolic disease 2014;37:753-62.
Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, et al. [Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2012;19:184-93.
Fila M, Brideau G, Morla L, Cheval L, Deschênes G, Doucet A. Inhibition of K+ secretion in the distal nephron in nephrotic syndrome: possible role of albuminuria. J Physiol. 2011. 589: 3611-21
Fofou-Caillierez M B, Mrabet N T, Chery C, Dreumont N, Flayac J, Pupavac M, et al. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Human molecular genetics 2013;22:4591-601.
Forges T, Monnier P, Leheup B, Cheillan D, Brivet M, Barbarino A, et al. Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. Fertility and sterility 2011;95:290 e1-3.
Gataullina S, De Lonlay P, Dellatolas G, Valayannapoulos V, Napuri S, Damaj L, Touati G, Altuzarra C, Dulac O, Boddaert N. Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred. Dev Med Child Neurol. 2013 Feb;55(2):162-6.
Gataullina S, Dellatolas G, Perdry H, Robert JJ, Valayannopoulos V, Touati G, Ottolenghi C, Dulac O, DE Lonlay P. Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia. Dev Med Child Neurol. 2012 Aug 27.
Gataullina S, Delonlay P, Lemaire E, Boddaert N, Bulteau C, Soufflet C, Laín GA, Nabbout R, Chiron C, Dulac O. Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Dev Med Child Neurol. 2015 Feb;57(2):194-9.
Gautier A,Godbout A,Grosheny C,Tejedor I,Coudert M,Courtillot C,Jublanc C,De Kerdanet M,Poirier JY,Riffaud L,Sainte-Rose C,Van Effenterre R,Brassier G,Bonnet F,Touraine P,Craniopharyngioma Study Group Markers of recurrence and long-term morbidity in craniopharyngioma: a systematic analysis of 171 patients.J Clin Endocrinol Metab
Godbout A,Tejedor I,Malivoir S,Polak M,Touraine P Transition from pediatric to adult healthcare: assessment of specific needs of patients with chronic endocrine conditions. Horm Res Paediatr
Gueniche K,Polak M [Coping with an unnamed birth. A study of parents of children born with disorders of sexual development].Arch Pediatr
Heron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. American journal of medical genetics Part A 2011;155A:58-68.
Huet F,Bensignor C,Polak M,Carel JC [Results of early growth hormone treatment in children with hypopituitarism].Bull Acad Natl Med. 2012 Jan;196(1):117-23; discussion 123-5.
Keil S, Anjema K, van Spronsen F J, Lambruschini N, Burlina A, Belanger-Quintana A, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013;131:e1881-8.
Kimmoun A, Munagamage G, Dessalles N, Gerard A, Feillet F, Levy B. Unexpected awakening from comatose thyroid storm after a single intravenous injection of L-carnitine. Intensive care medicine 2011;37:1716-7.
Kofman T, Audard V, Narjoz C, Gribouval O, Matignon M, Leibler C, Desvaux D, Lang P, Grimbert P APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair. 2014. Am J Kidney Dis. 63: 816-9.
Kofman T, Zhang SY, Copie-Bergman C, Moktefi A, Raimbourg Q, Francois H, Karras A, Plaisier E, Painchart B, Favre G, Bertrand D, Gyan E, Souid M, Roos-Weil D, Desvaux D, Grimbert P, Haioun C, Lang P, Sahali D, Audard V. Medicine (Baltimore). 2014. 93: 350-8.
Kopajtich R, Nicholls T J, Rorbach J, Metodiev M D, Freisinger P, Mandel H, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. American journal of human genetics 2014;95:708-20.
Krug P, Boyer O, Balzamo E, Sidi D, Lehnert A, Niaudet P. Nephrotic syndrome in Kawasaki disease: a report of three cases. Pediatr Nephrol 2012;27:1547-50
Lammardo A M, Robert M, Rocha J C, van Rijn M, Ahring K, Belanger-Quintana A, et al. Main issues in micronutrient supplementation in phenylketonuria. Molecular genetics and metabolism 2013;110 Suppl:S1-5.
Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6.
Latrech H,Simon A,Beltrand J,Souberbielle JC,Belmejdoub G,Polak M Postprandial hyperglycemia corrected by IGF-I (Increlex®) in Laron syndrome.Horm Res Paediatr. 2012;78(3):193-200.
Le Berre L, Bruneau S, Renaudin K, Naulet J, Usal C, Smit H, Soulillou JP, Dantal J. Development of initial idiopathic nephrotic syndrome and post-transplantation recurrence: evidence of the same biological entity. Nephrol Dial Transplant. 2011. 26:1523-32.
Le Berre L, Tilly G, Dantal J. Is there B cell involvement in a rat model of spontaneous idiopathic nephrotic syndrome treated with LF15-0195? 2014. J Nephrol. 27:265-73.
Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Therond P, et al. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. Journal of inherited metabolic disease 2015.
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. Horm Res Paediatr. 2014;81(2):80-103.
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84.
Leuret O, Barth M, Kuster A, Eyer D, de Parscau L, Odent S, et al. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. Journal of inherited metabolic disease 2012;35:975-81.
MacDonald A, Rocha J C, van Rijn M, Feillet F. Nutrition in phenylketonuria. Molecular genetics and metabolism 2011;104 Suppl:S10-8.
MaCdonald A, van Rijn M, Feillet F, Lund A M, Bernstein L, Bosch A M, et al. Adherence issues in inherited metabolic disorders treated by low natural protein diets. Annals of nutrition & metabolism 2012;61:289-95.
Mangier M, Izzedine H, Ory V, Zhang SY, Sendeyo K, Bouachi K, Audard V, Péchoux C, Soria JC, Massard M,Bahleda R, Bourry E, Khayat D, Baumelou A, Lang, P, Ollero, M, Pawlak, A, Sahali D. 2014. C-mip and NF-kB define two distinct renal syndromes associated with VEGF-targeted therapy. Kidney Int. 85: 457-70
Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM. Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy. J Neuropathol Exp Neurol. 2014;73:223-33.
Maupetit-Mehouas S, Mariot V, Reynes C, Bertrand G, Feillet F, Carel J C, et al. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. Journal of medical genetics 2011;48:55-63.
Mills P B, Camuzeaux S S, Footitt E J, Mills K A, Gissen P, Fisher L, et al. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain : a journal of neurology 2014;137:1350-60.
Moizard M P, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, et al. Twenty-five novel mutations including duplications in the ATP7A gene. Clinical genetics 2010.
Munyentwali H, Bouachi K, Audard V, Remy P, Lang P, Mojaat R, Deschênes G, Ronco PM, Plaisier EM, Dahan KY. Rituximab is an efficient and safe treatment in adults with steroid-dependent minimal change disease. 2013. Kidney Int. 83: 511-6.
Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, Gueant J L. Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica 2011;96:1715-9.
Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis. 2013 Sep 23;8(1):148.
Ory V, Fan Q, Hamdaoui N, Zhang SY, Desvaux D, Audard V, Candelier M, Noel LH, Lang P, Guellaën G, Pawlak A and Sahali D. 2012 . C-mip downregulates NF-kB activity and promotes apoptosis in podocytes. Am J Pathol 180: 2284-2292.
Robert M, Rocha J C, van Rijn M, Ahring K, Belanger-Quintana A, MacDonald A, et al. Micronutrient status in phenylketonuria. Molecular genetics and metabolism 2013;110 Suppl:S6-17.
Sahali D, Audard V, Rémy P, Lang P. Pathogenesis and treatment of idiopathic nephrotic syndrome in adults. 2012. Nephrol Ther. Nephrol Ther. 8:180-92
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, et al. Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. Journal of inherited metabolic disease 2012;35:823-9.
Sellier-Leclerc AL, Baudouin V, Kwon T, Macher MA, Guérin V, Lapillonne H, Deschênes G, Ulinski T. Rituximab in steroid-dependent idiopathic nephrotic syndrome in childhood–follow-up after CD19 recovery. Nephrol Dial Transplant. 2012. 27:1083-9
Sellier-Leclerc AL, Belli E, Guérin V, Dorfmüller P, Deschênes G. Fulminant viral myocarditis after rituximab therapy in pediatric nephrotic syndrome. Pediatr Nephrol. 2013. 28:1875-9
Sendeyo, K, Audard, V, Zhang, SY, Fan, Q, Bouachi, K, Ollero, M, Rucker-Martin, C, Gouadon, E, Desvaux, D, Bridoux, F, Guellaen, G, Ronco, P, Lang, P, Pawlak, A, Sahali, D. 2013. Upregulation of c-mip is closely related to podocyte dysfunction in membranous nephropathy. Kidney Int. 83:414-25.
Stehlé T, Joly D, Vanhille P, Boffa JJ, Rémy P, Mesnard L, Hoffmann M, Grimbert P, Choukroun G, Vrtovsnik F, Verine J, Desvaux D, Walker F, Lang P, Mahevas M, Sahali D, Audard V. 2013. Clinicopathological study of glomerular diseases associated with sarcoidosis. Orphanet J Rare Dis. 8: 65-74
Sudour H, Schmitt C, Contet A, Chastagner P, Feillet F. Acute metabolic encephalopathy in two patients treated with asparaginase and ondasetron. American journal of hematology 2011;86:323-5.
Teissier R, Nowak E, Assoun M, Mention K, Cano A, Fouilhoux A, et al. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. Journal of inherited metabolic disease 2012;35:993-9.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. American journal of human genetics 2014;95:113-20.
Trefz F K, van Spronsen F J, MacDonald A, Feillet F, Muntau A C, Belanger-Quintana A, et al. Management of adult patients with phenylketonuria: survey results from 24 countries. European journal of pediatrics 2015;174:119-27.
Trefz F, Lichtenberger O, Blau N, Muntau A C, Feillet F, Belanger-Quintana A, et al. Tetrahydrobiopterin (BH) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. Molecular genetics and metabolism 2015.
Trocello J M, Woimant F, El Balkhi S, Guichard J P, Poupon J, Chappuis P, Feillet F. Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease. Neurology 2013;81:1557.
Tudorache E, Hogan J, Dourthe ME, Quinet B, Grimprel E, Sellier-Leclerc AL, Ulinski T. Congenital nephrotic syndrome with acute renal failure: questions. Pediatr Nephrol. 2012 Jan;27:47-50.
Ulinski T, Aoun B. New treatment strategies in idiopathic nephrotic syndrome. Minerva Pediatr. 2012. 64:135-43.
Voican A, Bachelot A, Bouligand J, Francou B, Dulon J, Lombès M, et al. NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency. J Clin Endocrinol Metab 2013;98:E1017-21.
Wagner S, Vianey-Saban C, Salomons G S, Schmitt E, Feillet F. [L-2-hydroxyglutaric aciduria: report on two cases]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2014;21:78-85.
Wiedemann A, Leheup B, Battaglia-Hsu S F, Jonveaux P, Jeannesson E, Feillet F. Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? Molecular genetics and metabolism 2013;110 Suppl:S62-5.
Zhang B, Fila M, Fakhoury M, Baudouin V, Deschênes G, Jacqz-Aigrain E, Zhao W. Pharmacokinetics and dosage individualization of ganciclovir and valganciclovir in an infant with nephrotic syndrome associated with cytomegalovirus infection. J Antimicrob Chemother. 2014 69:1150-1
Zhang S, Audard V, Fan Q, Pawlak A, Lang P, Sahali D. Immunopathogenesis of Idiopathic Nephrotic Syndrome. Contrib Nephrol. 2011;169:94-106.