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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: alix e. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Among authors: alix e. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G. Mazzola L, et al. Among authors: alix e. Ann Neurol. 2021 Feb;89(2):402-407. doi: 10.1002/ana.25941. Epub 2020 Nov 5. Ann Neurol. 2021. PMID: 33085104
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.
Rocas D, Alix E, Michel J, Cordier MP, Labalme A, Guilbert H, Till M, Schluth-Bolard C, de Haas P, Massardier J, Portes Vd, Edery P, Touraine R, Guibaud L, Vasiljevic A, Sanlaville D. Rocas D, et al. Among authors: alix e. Eur J Med Genet. 2013 May;56(5):270-3. doi: 10.1016/j.ejmg.2013.01.014. Epub 2013 Feb 14. Eur J Med Genet. 2013. PMID: 23416624
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Patten SA, et al. Among authors: alix e. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262. Epub 2015 Feb 2. J Clin Invest. 2015. PMID: 25642776 Free PMC article.
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?
Touhami R, Foddha H, Alix E, Jalloul A, Mougou-Zerelli S, Saad A, Sanlaville D, Haj Khelil A. Touhami R, et al. Among authors: alix e. Front Genet. 2023 Jan 9;13:1061539. doi: 10.3389/fgene.2022.1061539. eCollection 2022. Front Genet. 2023. PMID: 36778913 Free PMC article.
Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.
Pons L, Till M, Alix E, Abel C, Boggio D, Bordes A, Caloone J, Raskin FC, Chatron N, Cordier MP, Fichez A, Labalme A, Lajeunesse C, Liaras É, Massoud M, Miribel J, Ollagnon E, Schluth-Bolard C, Vichier-Cerf A, Edery P, Attia J, Huissoud C, Rudigoz RC, Massardier J, Gaucherand P, Sanlaville D. Pons L, et al. Among authors: alix e. J Gynecol Obstet Hum Reprod. 2017 Mar;46(3):275-283. doi: 10.1016/j.jogoh.2016.11.004. Epub 2017 Jan 30. J Gynecol Obstet Hum Reprod. 2017. PMID: 28403926
58 results