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18 results for Siquier,+Karine

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ArticlesPeer ReviewedFull Text
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Author / Creator:Pant, Devesh C. ; Dorboz, Imen ; Schluter, Agatha ; Fourcade, Stéphane ; Launay, Nathalie ; Joya, Javier ; Aguilera-Albesa, Sergio ; Yoldi, Maria Eugenia ; Casasnovas, Carlos ; Willis, Mary J. ; Ruiz, Montserrat ; Ville, Dorothée ; Lesca, Gaetan ; Siquier-Pernet, Karine ; Desguerre, Isabelle ; Yan, Huifang ; Wang, Jingmin ; Burmeister, Margit ; Brady, Lauren ; Tarnopolsky, Mark ; Cornet, Carles ; Rubbini, Davide ; Terriente, Javier ; James, Kiely N. ; Musaev, Damir ; Zaki, Maha S. ; Patterson, Marc C. ; Lanpher, Brendan C. ; Klee, Eric W. ; Pinto e Vairo, Filippo ; Wohler, Elizabeth ; Sobreira, Nara Lygia de M. ; Cohen, Julie S. ; Maroofian, Reza ; Galehdari, Hamid ; Mazaheri, Neda ; Shariati, Gholamreza ; Colleaux, Laurence ; Rodriguez, Diana ; Gleeson, Joseph G. ; Pujades, Cristina ; Fatemi, Ali ; Boespflug-Tanguy, Odile ; Pujol, Aurora
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1240-1256
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Author / Creator:Brechet, Aline ; Buchert, Rebecca ; Schwenk, Jochen ; Boudkkazi, Sami ; Zolles, Gerd ; Siquier-Pernet, Karine ; Schaber, Irene ; Bildl, Wolfgang ; Saadi, Abdelkrim ; Bole-Feysot, Christine ; Nitschke, Patrick ; Reis, Andre ; Sticht, Heinrich ; Al-Sanna’a, Nouriya ; Rolfs, Arndt ; Kulik, Akos ; Schulte, Uwe ; Colleaux, Laurence ; Abou Jamra, Rami ; Fakler, Bernd
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-07, Vol.8 (1), p.15910-15910, Article 15910
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Biallelic loss of EMC10 leads to mild to severe intellectual disability
Author / Creator:Kaiyrzhanov, Rauan ; Rocca, Clarissa ; Suri, Mohnish ; Gulieva, Sughra ; Zaki, Maha S. ; Henig, Noa Z. ; Siquier, Karine ; Guliyeva, Ulviyya ; Mounir, Samir M. ; Marom, Daphna ; Allahverdiyeva, Aynur ; Megahed, Hisham ; Bokhoven, Hans ; Cantagrel, Vincent ; Rad, Aboulfazl ; Pourkeramti, Alemeh ; Dehghani, Boshra ; Shao, Diane D. ; Markus‐Bustani, Keren ; Sofrin‐Drucker, Efrat ; Orenstein, Naama ; Salayev, Kamran ; Arrigoni, Filippo ; Houlden, Henry ; Maroofian, Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1080-1089
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Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech
Author / Creator:Ormieres, Clothilde ; Lesieur-Sebellin, Marion ; Siquier-Pernet, Karine ; Delplancq, Geoffroy ; Rio, Marlene ; Parisot, Mélanie ; Nitschké, Patrick ; Rodriguez-Fontenla, Cristina ; Bodineau, Alison ; Narcy, Lucie ; Schlumberger, Emilie ; Cantagrel, Vincent ; Malan, Valérie
Publisher:England: BioMed Central Ltd
Journal title:Molecular autism, 2025-02, Vol.16 (1), p.10-14
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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Author / Creator:Nicolle, Romain ; Altin, Nami ; Siquier-Pernet, Karine ; Salignac, Sherlina ; Blanc, Pierre ; Munnich, Arnold ; Bole-Feysot, Christine ; Malan, Valérie ; Caron, Barthélémy ; Nitschké, Patrick ; Desguerre, Isabelle ; Boddaert, Nathalie ; Rio, Marlène ; Rausell, Antonio ; Cantagrel, Vincent
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-06, Vol.16 (1), p.143-143, Article 143
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Contiguous mutation syndrome in the era of high‐throughput sequencing
Author / Creator:Langouët, Maéva ; Siquier‐Pernet, Karine ; Sanquer, Sylvia ; Bole‐Feysot, Christine ; Nitschke, Patrick ; Boddaert, Nathalie ; Munnich, Arnold ; Mancini, Grazia M. S. ; Barouki, Robert ; Amiel, Jeanne ; Colleaux, Laurence
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.215-220
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Genotype specific age related changes in a transgenic rat model of Huntington's disease
Author / Creator:Blockx, Ines ; Van Camp, Nadja ; Verhoye, Marleen ; Boisgard, Raphael ; Dubois, Albertine ; Jego, Benoit ; Jonckers, Elisabeth ; Raber, Kerstin ; Siquier, Karine ; Kuhnast, Bertrand ; Dollé, Frédéric ; Nguyen, Huu Phuc ; Von Hörsten, Stephan ; Tavitian, Bertrand ; Van der Linden, Annemie
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2011-10, Vol.58 (4), p.1006-1016
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Multimodal In Vivo Imaging of Tumorigenesis and Response to Chemotherapy in a Transgenic Mouse Model of Mammary Cancer
Author / Creator:Alberini, Jean-Louis ; Boisgard, Raphaël ; Guillermet, Stéphanie ; Siquier, Karine ; Jego, Benoît ; Thézé, Benoît ; Urien, Saik ; Rezaï, Keyvan ; Menet, Emmanuelle ; Maroy, Renaud ; Dollé, Frédéric ; Kühnast, Bertrand ; Tavitian, Bertrand
Publisher:New York: Springer US
Journal title:Molecular imaging and biology, 2016-08, Vol.18 (4), p.617-626
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
Author / Creator:Nicolle, Romain ; Siquier-Pernet, Karine ; Rio, Marlène ; Guimier, Anne ; Ollivier, Emmanuelle ; Nitschke, Patrick ; Bole-Feysot, Christine ; Romana, Serge ; Hastie, Alex ; Cantagrel, Vincent ; Malan, Valérie
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.712-720
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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
Author / Creator:Nguyen, Lam Son ; Schneider, Taiane ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Verny, Florine ; Boddaert, Nathalie ; Desguerre, Isabelle ; Munich, Arnold ; Rosa, José Luis ; Cormier-Daire, Valérie ; Colleaux, Laurence
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.455-458
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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Author / Creator:Mircsof, Dennis ; Langouët, Maéva ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Cagnard, Nicolas ; Nitschke, Patrick ; Gaspar, Ludmila ; Žnidarič, Matej ; Alibeu, Olivier ; Fritz, Ann-Kristina ; Wolfer, David P ; Schröter, Aileen ; Bosshard, Giovanna ; Rudin, Markus ; Koester, Christina ; Crestani, Florence ; Seebeck, Petra ; Boddaert, Nathalie ; Prescott, Katrina ; Hines, Rochelle ; Moss, Steven J ; Fritschy, Jean-Marc ; Munnich, Arnold ; Amiel, Jeanne ; Brown, Steven A ; Tyagarajan, Shiva K ; Colleaux, Laurence
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2015-12, Vol.18 (12), p.1731-1736
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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology
Author / Creator:Nguyen, Lam Son ; Lepleux, Marylin ; Makhlouf, Mélanie ; Martin, Christelle ; Fregeac, Julien ; Siquier-Pernet, Karine ; Philippe, Anne ; Feron, François ; Gepner, Bruno ; Rougeulle, Claire ; Humeau, Yann ; Colleaux, Laurence
Publisher:England: BioMed Central Ltd
Journal title:Molecular autism, 2016-01, Vol.7 (1), p.1-1, Article 1
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.57-57, Article 57
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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
Author / Creator:Egloff, Matthieu ; Lam-Son, Nguyen ; Siquier-Pernet, Karine ; Cormier-Daire, Valérie ; Baujat, Geneviève ; Attié-Bitach, Tania ; Bole-Feysot, Christine ; Nitschke, Patrick ; Vekemans, Michel ; Colleaux, Laurence ; Malan, Valérie
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.912-918
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Refining the phenotype associated with CASC5 mutation
Author / Creator:Saadi, Abdelkrim ; Verny, Florine ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Nitschke, Patrick ; Munnich, Arnold ; Abada-Dendib, Myriam ; Chaouch, Malika ; Abramowicz, Marc ; Colleaux, Laurence
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2016-01, Vol.17 (1), p.71-78
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:BioMed Central
Journal title:Orphanet journal of rare diseases, 2015-12, Vol.11 (1)
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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology
Author / Creator:Nguyen, Lam Son ; Lepleux, Marylin ; Makhlouf, Mélanie ; Martin, Christelle ; Fregeac, Julien ; Siquier-Pernet, Karine ; Philippe, Anne ; Feron, François ; Gepner, Bruno ; Rougeulle, Claire ; Humeau, Yann ; Colleaux, Laurence
Publisher:BioMed Central
Journal title:Molecular autism, 2016-12, Vol.7 (1)
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ArticlesFull Text
Molecular Imaging Study on In Vivo Distribution and Pharmacokinetics of Modified Small Interfering RNAs (siRNAs)
Author / Creator:Viel, Thomas ; Boisgard, Raphael ; Kuhnast, Bertrand ; Jego, Benoit ; Siquier-Pernet, Karine ; Hinnen, Francoise ; Dolle, Frederic ; Tavitian, Bertrand
Publisher:United States: Mary Ann Liebert, Inc. publishers
Journal title:Oligonucleotides, 2008-09, Vol.18 (3), p.21-212
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

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Biallelic loss of EMC10 leads to mild to severe intellectual disability

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Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech

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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

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Contiguous mutation syndrome in the era of high‐throughput sequencing

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Genotype specific age related changes in a transgenic rat model of Huntington's disease

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Multimodal In Vivo Imaging of Tumorigenesis and Response to Chemotherapy in a Transgenic Mouse Model of Mammary Cancer

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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

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Refining the phenotype associated with CASC5 mutation

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

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Molecular Imaging Study on In Vivo Distribution and Pharmacokinetics of Modified Small Interfering RNAs (siRNAs)

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