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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2008 2
2009 3
2010 6
2011 8
2012 5
2013 12
2014 6
2015 8
2016 4
2017 8
2018 5
2019 11
2020 9
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77 results
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Page 1
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. Krzyzewska IM, et al. Among authors: labalme a. Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. Clin Epigenetics. 2019. PMID: 31685013 Free PMC article.
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L, Labalme A, Marks P, Osio D, Putoux A, Sanlaville D, Lesca G, Vasiljevic A. Chatron N, et al. Among authors: labalme a. Brain. 2019 Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272. Brain. 2019. PMID: 31608932
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.
Chatron N, Schluth-Bolard C, Frétigny M, Labalme A, Vilchez G, Castet SM, Négrier C, Sanlaville D, Vinciguerra C, Jourdy Y. Chatron N, et al. Among authors: labalme a. J Thromb Haemost. 2019 Jul;17(7):1097-1103. doi: 10.1111/jth.14460. Epub 2019 May 20. J Thromb Haemost. 2019. PMID: 31021037
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G. Chatron N, et al. Among authors: labalme a. Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29630738 Free PMC article.
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: labalme a. Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497044
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G. Mathieu ML, et al. Among authors: labalme a. Eur J Paediatr Neurol. 2018 Nov;22(6):1124-1132. doi: 10.1016/j.ejpn.2018.07.004. Epub 2018 Jul 21. Eur J Paediatr Neurol. 2018. PMID: 30126759
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: labalme a. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.
Pons L, Lesca G, Sanlaville D, Chatron N, Labalme A, Manel V, Arzimanoglou A, de Bellescize J, Lion-François L. Pons L, et al. Among authors: labalme a. Epileptic Disord. 2018 Aug 1;20(4):289-294. doi: 10.1684/epd.2018.0988. Epileptic Disord. 2018. PMID: 30078772 Free article.
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
Chatron N, Thibault L, Lespinasse J, Labalme A, Schluth-Bolard C, Till M, Edery P, Touraine R, des Portes V, Lesca G, Sanlaville D. Chatron N, et al. Among authors: labalme a. Mol Syndromol. 2017 Nov;8(6):325-330. doi: 10.1159/000479455. Epub 2017 Sep 7. Mol Syndromol. 2017. PMID: 29230163 Free PMC article.
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Faoucher M, et al. Among authors: labalme a. Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720226 Free PMC article.
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