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Page 1
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: hernandorena x. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Among authors: hernandorena x. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.
Congenital hypomyelination with axonopathy.
Vital A, Vital C, Coquet M, Hernandorena X, Demarquez JM. Vital A, et al. Among authors: hernandorena x. Eur J Pediatr. 1989 Feb;148(5):470-2. doi: 10.1007/BF00595918. Eur J Pediatr. 1989. PMID: 2920756
Mortality and significant neurosensory impairment in preterm infants: an international comparison.
Chevallier M, Debillon T, Darlow BA, Synnes AR, Pierrat V, Hurrion E, Yang J, Ego A, Ancel PY, Lui K, Shah PS, Luu TM; Australian and New Zealand Neonatal Network (ANZNN); Canadian Neonatal Network (CNN); Canadian Neonatal Follow-Up Network (CNFUN); Etude Epidémiologique sur les Petits Ages Gestationnels (EPIPAGE-2) Investigators. Chevallier M, et al. Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):317-323. doi: 10.1136/archdischild-2021-322288. Epub 2021 Sep 11. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34509987
Survival and morbidity of preterm children born at 22 through 34 weeks' gestation in France in 2011: results of the EPIPAGE-2 cohort study.
Ancel PY, Goffinet F; EPIPAGE-2 Writing Group; Kuhn P, Langer B, Matis J, Hernandorena X, Chabanier P, Joly-Pedespan L, Lecomte B, Vendittelli F, Dreyfus M, Guillois B, Burguet A, Sagot P, Sizun J, Beuchée A, Rouget F, Favreau A, Saliba E, Bednarek N, Morville P, Thiriez G, Marpeau L, Marret S, Kayem G, Durrmeyer X, Granier M, Baud O, Jarreau PH, Mitanchez D, Boileau P, Boulot P, Cambonie G, Daudé H, Bédu A, Mons F, Fresson J, Vieux R, Alberge C, Arnaud C, Vayssière C, Truffert P, Pierrat V, Subtil D, D'Ercole C, Gire C, Simeoni U, Bongain A, Sentilhes L, Rozé JC, Gondry J, Leke A, Deiber M, Claris O, Picaud JC, Ego A, Debillon T, Poulichet A, Coliné E, Favre A, Fléchelles O, Samperiz S, Ramful D, Branger B, Benhammou V, Foix-L'Hélias L, Marchand-Martin L, Kaminski M. Ancel PY, et al. Among authors: hernandorena x. JAMA Pediatr. 2015 Mar;169(3):230-8. doi: 10.1001/jamapediatrics.2014.3351. JAMA Pediatr. 2015. PMID: 25621457
Cranial ultrasonography and transfontanellar Doppler in premature neonates (24-32 weeks of gestation): dynamic evolution and association with a severe adverse neurological outcome at hospital discharge in the Aquitaine cohort, 2003-2005.
Brissaud O, Boufkhed S, Joly L, Germain C, Bouvet-Murcia A, Brun M, Chateil JF, Leroy V; Aquipage Study Group. Brissaud O, et al. Eur J Radiol. 2012 Sep;81(9):2396-402. doi: 10.1016/j.ejrad.2011.11.017. Epub 2012 Jan 9. Eur J Radiol. 2012. PMID: 22226853
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers.
Simon A, Warszawski J, Kariyawasam D, Le Chenadec J, Benhammou V, Czernichow P, Foissac F, Laborde K, Tréluyer JM, Firtion G, Layouni I, Munzer M, Bavoux F, Polak M, Blanche S; ANRS French Perinatal Cohort Study Group. Simon A, et al. JAMA. 2011 Jul 6;306(1):70-8. doi: 10.1001/jama.2011.915. JAMA. 2011. PMID: 21730243
30 results