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Juliette Nectoux
Juliette Nectoux
Praticien Hospitalier, PharmD, PhD, Laboratoire de Génétique et Biologie Moléculaires, Hôpital
Verified email at aphp.fr
Title
Cited by
Cited by
Year
Key clinical features to identify girls with CDKL5 mutations
N Bahi-Buisson, J Nectoux, H Rosas-Vargas, M Milh, N Boddaert, ...
Brain 131 (10), 2647-2661, 2008
3242008
Update on fluoroquinolone resistance in Helicobacter pylori: new mutations leading to resistance and first description of a gyrA polymorphism associated with hypersusceptibility
V Cattoir, J Nectoux, C Lascols, L Deforges, JC Delchier, F Megraud, ...
International journal of antimicrobial agents 29 (4), 389-396, 2007
1542007
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
MA Mencarelli, A Spanhol-Rosseto, R Artuso, D Rondinella, R De Filippis, ...
Journal of medical genetics 47 (1), 49-53, 2010
1332010
A quantitative gene expression study suggests a role for angiopoietins in focal nodular hyperplasia
V Paradis, I Bièche, D Dargère, I Laurendeau, J Nectoux, C Degott, ...
Gastroenterology 124 (3), 651-659, 2003
1302003
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
N Bahi-Buisson, J Nectoux, B Girard, H Van Esch, T De Ravel, ...
Neurogenetics 11, 241-249, 2010
992010
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
C Delépine, H Meziane, J Nectoux, M Opitz, AB Smith, C Ballatore, ...
Human molecular genetics 25 (1), 146-157, 2016
692016
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, ...
Journal of Medical Genetics 45 (3), 172-178, 2008
682008
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy
R De Cid, R Ben Yaou, C Roudaut, K Charton, S Baulande, F Leturcq, ...
Neurology 85 (24), 2126-2135, 2015
602015
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
J Nectoux, N Bahi-Buisson, I Guellec, J Coste, ND Roux, H Rosas, ...
Neurology 70 (22_part_2), 2145-2151, 2008
582008
Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization
GL O’grady, HA Best, TE Sztal, V Schartner, M Sanjuan-Vazquez, ...
The American Journal of Human Genetics 99 (5), 1086-1105, 2016
562016
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
C Louvrier, E Pasmant, A Briand-Suleau, J Cohen, P Nitschké, J Nectoux, ...
Neuro-oncology 20 (7), 917-929, 2018
542018
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
T Le Guen, N Bahi-Buisson, J Nectoux, N Boddaert, Y Fichou, B Diebold, ...
Neurogenetics 12, 1-8, 2011
532011
Could digital PCR be an alternative as a non-invasive prenatal test for trisomy 21: a proof of concept study
LA El Khattabi, C Rouillac-Le Sciellour, D Le Tessier, A Luscan, ...
PloS one 11 (5), e0155009, 2016
512016
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia
L Orhant, O Anselem, M Fradin, PH Becker, C Beugnet, N Deburgrave, ...
Prenatal diagnosis 36 (5), 397-406, 2016
502016
Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome
C Delépine, J Nectoux, F Letourneur, V Baud, J Chelly, P Billuart, ...
Neuromolecular medicine 17, 353-363, 2015
452015
Maternal origin of a novel C‐terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
J Nectoux, D Heron, M Tallot, J Chelly, T Bienvenu
Clinical genetics 70 (1), 29-33, 2006
422006
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain
Y Fichou, J Nectoux, N Bahi-Buisson, J Chelly, T Bienvenu
Journal of human genetics 56 (1), 52-57, 2011
412011
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
R White, G Ho, S Schmidt, IE Scheffer, A Fischer, SC Yendle, T Bienvenu, ...
Twin Research and Human Genetics 13 (2), 168-178, 2010
392010
Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients
C Papadopoulos, P LaforÊt, J Nectoux, T Stojkovic, K Wahbi, RY Carlier, ...
Muscle & nerve 56 (6), 1096-1100, 2017
382017
Cell cloning‐based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
J Nectoux, Y Fichou, H Rosas‐Vargas, N Cagnard, N Bahi‐Buisson, ...
Journal of cellular and molecular medicine 14 (7), 1962-1974, 2010
382010
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