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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation
Author / Creator:Pacault, Mathilde ; Verebi, Camille ; Champion, Magali ; Orhant, Lucie ; Perrier, Alexandre ; Girodon, Emmanuelle ; Leturcq, France ; Vidaud, Dominique ; Férec, Claude ; Bienvenu, Thierry ; Daveau, Romain ; Nectoux, Juliette
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-04, Vol.18 (4), p.e0280976-e0280976
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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Author / Creator:Cardone, Nastasia ; Taglietti, Valentina ; Baratto, Serena ; Kefi, Kaouthar ; Periou, Baptiste ; Gitiaux, Ciryl ; Barnerias, Christine ; Lafuste, Peggy ; Pharm, France Leturcq ; Pharm, Juliette Nectoux ; Panicucci, Chiara ; Desguerre, Isabelle ; Bruno, Claudio ; Authier, François-Jerome ; Fiorillo, Chiara ; Relaix, Frederic ; Malfatti, Edoardo
Publisher:London: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2023-10, Vol.11 (1), p.1-167, Article 167
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Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
Author / Creator:El Khattabi, Laïla Allach ; Rouillac-Le Sciellour, Christelle ; Le Tessier, Dominique ; Luscan, Armelle ; Coustier, Audrey ; Porcher, Raphael ; Bhouri, Rakia ; Nectoux, Juliette ; Sérazin, Valérie ; Quibel, Thibaut ; Mandelbrot, Laurent ; Tsatsaris, Vassilis ; Vialard, François ; Dupont, Jean-Michel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-05, Vol.11 (5), p.e0155009-e0155009
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Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome
Author / Creator:Delépine, Chloé ; Nectoux, Juliette ; Letourneur, Franck ; Baud, Véronique ; Chelly, Jamel ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:New York: Springer US
Journal title:Neuromolecular medicine, 2015-12, Vol.17 (4), p.353-363
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An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain
Author / Creator:Fichou, Yann ; Nectoux, Juliette ; Bahi-Buisson, Nadia ; Chelly, Jamel ; Bienvenu, Thierry
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-01, Vol.56 (1), p.52-57
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Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis
Author / Creator:Nectoux, Juliette
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2018-04, Vol.22 (2), p.139-148
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Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
Author / Creator:White, Rose ; Ho, Gladys ; Schmidt, Swetlana ; Scheffer, Ingrid E. ; Fischer, Alexandra ; Yendle, Simone C. ; Bienvenu, Thierry ; Nectoux, Juliette ; Ellaway, Carolyn J. ; Darmanian, Artur ; Tong, XingZhang ; Cloosterman, Desiree ; Bennetts, Bruce ; Kalra, Veena ; Fullston, Tod ; Gecz, Jozef ; Cox, Timothy C. ; Christodoulou, John
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Twin research and human genetics, 2010-04, Vol.13 (2), p.168-178
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Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
Author / Creator:Pacot, Laurence ; Pelletier, Valerie ; Chansavang, Albain ; Briand-Suleau, Audrey ; Burin des Roziers, Cyril ; Coustier, Audrey ; Maillard, Theodora ; Vaucouleur, Nicolas ; Orhant, Lucie ; Barbance, Cécile ; Lermine, Alban ; Hamzaoui, Nadim ; Hadjadj, Djihad ; Laurendeau, Ingrid ; El Khattabi, Laïla ; Nectoux, Juliette ; Vidaud, Michel ; Parfait, Béatrice ; Dollfus, Hélène ; Pasmant, Eric ; Vidaud, Dominique
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-01, Vol.142 (1), p.1-9
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Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome
Author / Creator:Delépine, Chloé ; Nectoux, Juliette ; Letourneur, Franck ; Baud, Véronique ; Chelly, Jamel ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:United States
Journal title:Neuromolecular medicine, 2015-12, Vol.17 (4), p.353-363
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Author / Creator:Krahn, Martin ; Biancalana, Valérie ; Cerino, Mathieu ; Perrin, Aurélien ; Michel-Calemard, Laurence ; Nectoux, Juliette ; Leturcq, France ; Bouchet-Séraphin, Céline ; Acquaviva-Bourdain, Cécile ; Campana-Salort, Emmanuelle ; Molon, Annamaria ; Urtizberea, Jon Andoni ; Audic, Frédérique ; Chabrol, Brigitte ; Pouget, Jean ; Froissart, Roseline ; Melki, Judith ; Rendu, John ; Petit, François ; Métay, Corinne ; Seta, Nathalie ; Sternberg, Damien ; Fauré, Julien ; Cossée, Mireille
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.349-352
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Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant
Author / Creator:Huby, Thomas ; Le Guillou, Edouard ; Burin des Roziers, Cyril ; Pacot, Laurence ; Briand-Suleau, Audrey ; Chansavang, Albain ; Toussaint, Aurélie ; Duchossoy, Véronique ; Vaucouleur, Nicolas ; Benoit, Virginie ; Lodé, Laurence ; Molac, Clémence ; North, Marie-Odile ; Grotto, Sarah ; Tsatsaris, Vassilis ; Jouinot, Anne ; Cochand-Priollet, Béatrix ; Paepegaey, Anne-Cécile ; Nectoux, Juliette ; Groussin, Lionel ; Pasmant, Eric
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (4), p.e1367-e1373
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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model
Author / Creator:Rousseaud, Audrey ; Delépine, Chloé ; Nectoux, Juliette ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:United States
Journal title:Journal of molecular neuroscience, 2015-08, Vol.56 (4), p.758-767
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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2^sup 308/y^ Mouse Model
Author / Creator:Rousseaud, Audrey ; Delépine, Chloé ; Nectoux, Juliette ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:Totowa: Springer Nature B.V
Journal title:Journal of molecular neuroscience, 2015-08, Vol.56 (4), p.758
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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2308/y Mouse Model
Author / Creator:Rousseaud, Audrey ; Delépine, Chloé ; Nectoux, Juliette ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2015-08, Vol.56 (4), p.758-767
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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2 super(308/y) Mouse Model
Author / Creator:Rousseaud, Audrey ; Delepine, Chloe ; Nectoux, Juliette ; Billuart, Pierre ; Bienvenu, Thierry
Journal title:Journal of molecular neuroscience, 2015-08, Vol.56 (4), p.758-767
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Mutations in the C-terminus of CDKL5: proceed with caution
Author / Creator:Diebold, Bertrand ; Delépine, Chloé ; Gataullina, Svetlana ; Delahaye, Andrée ; Nectoux, Juliette ; Bienvenu, Thierry
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.270-272
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Author / Creator:Ávila-Polo, Rainiero ; Malfatti, Edoardo ; Lornage, Xavière ; Cheraud, Chrystel ; Nelson, Isabelle ; Nectoux, Juliette ; Böhm, Johann ; Schneider, Raphaël ; Hedberg-Oldfors, Carola ; Eymard, Bruno ; Monges, Soledad ; Lubieniecki, Fabiana ; Brochier, Guy ; Thao Bui, Mai ; Madelaine, Angeline ; Labasse, Clémence ; Beuvin, Maud ; Lacène, Emmanuelle ; Boland, Anne ; Deleuze, Jean-François ; Thompson, Julie ; Richard, Isabelle ; Taratuto, Ana Lía ; Udd, Bjarne ; Leturcq, France ; Bonne, Gisèle ; Oldfors, Anders ; Laporte, Jocelyn ; Romero, Norma Beatriz
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2018-12, Vol.77 (12), p.1101-1114
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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation Non-invasive prenatal diagnosis of single gene disorders with en...
Author / Creator:Mathilde Pacault ; Camille Verebi ; Magali Champion ; Lucie Orhant ; Alexandre Perrier ; Emmanuelle Girodon ; France Leturcq ; Dominique Vidaud ; Claude Férec ; Thierry Bienvenu ; Romain Daveau ; Juliette Nectoux
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2023-01, Vol.18 (4)
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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Author / Creator:Zillhardt, Julia Lauer ; Poirier, Karine ; Broix, Loïc ; Lebrun, Nicolas ; Elmorjani, Adrienne ; Martinovic, Jelena ; Saillour, Yoann ; Muraca, Giuseppe ; Nectoux, Juliette ; Bessieres, Bettina ; Fallet-Bianco, Catherine ; Lyonnet, Stanislas ; Dulac, Olivier ; Odent, Sylvie ; Rejeb, Imen ; Jemaa, Lamia Ben ; Rivier, Francois ; Pinson, Lucile ; Geneviève, David ; Musizzano, Yuri ; Bigi, Nicole ; Leboucq, Nicolas ; Giuliano, Fabienne ; Philip, Nicole ; Vilain, Catheline ; Van Bogaert, Patrick ; Maurey, Hélène ; Beldjord, Cherif ; Artiguenave, François ; Boland, Anne ; Olaso, Robert ; Masson, Cécile ; Nitschké, Patrick ; Deleuze, Jean-François ; Bahi-Buisson, Nadia ; Chelly, Jamel
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.611-614
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ArticlesPeer ReviewedFull Text
Astrocyte Transcriptome from the Mecp2^sup 308^-Truncated Mouse Model of Rett Syndrome
Author / Creator:Delépine, Chloé ; Nectoux, Juliette ; Letourneur, Franck ; Baud, Véronique ; Chelly, Jamel ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:Totowa: Springer Nature B.V
Journal title:Neuromolecular medicine, 2015-12, Vol.17 (4), p.353
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Showing 1 to 20 of 32 results

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation

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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

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Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study

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Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome

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An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

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Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis

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Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

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Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

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Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

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Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant

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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model

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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2^sup 308/y^ Mouse Model

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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2308/y Mouse Model

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Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2 super(308/y) Mouse Model

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Mutations in the C-terminus of CDKL5: proceed with caution

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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation Non-invasive prenatal diagnosis of single gene disorders with en...

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

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Astrocyte Transcriptome from the Mecp2^sup 308^-Truncated Mouse Model of Rett Syndrome

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