Skip to contents

Bréchet, Aline [Author]; Buchert, Rebecca [Author]; Schwenk, Jochen [Author]; Boudkkazi, Sami [Author]; Zolles, Gerd [Author]; Siquier-Pernet, Karine [Author]; Schaber, Irene [Author]; Bildl, Wolfgang [Author]; Saadi, Abdelkrim [Author]; Bole-Feysot, Christine [Author]; Linsel-Nitschke, Patrick [Author]; Reis, André [Author]; Sticht, Heinrich [Author]; Al-Sannaa, Nouriyah [Author]; Rolfs, Arndt [Author]; Kulik, Akos [Author]; Schulte, Uwe [Author]; Colleaux, Laurence [Author]; Abou Jamra, Rami [Author]; Fakler, Bernd [Author]

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

View online
Schließen

Access

... to E-book via DOI (freely accessible)

... to E-book via Resolving system (freely accessible)

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

[London]: Nature Publishing Group UK, 2017

Published in: Nature Communications ; 8 (2017), 15910
Zheng, Jinzi; Boisgard, Raphaël; Siquier-Pernet, Karine; Decaudin, Didier; Dollé, Frédéric; Tavitian, Bertrand

Differential Expression of the 18 kDa Translocator Protein (TSPO) by Neoplastic and Inflammatory Cells in Mouse Tumors of Breast Cancer

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

American Chemical Society (ACS), 2011

Published in: Molecular Pharmaceutics, 8 (2011) 3, Seite 823-832
Viel, Thomas; Boisgard, Raphael; Kuhnast, Bertrand; Jego, Benoit; Siquier-Pernet, Karine; Hinnen, Francoise; Dolle, Frederic; Tavitian, Bertrand

Molecular Imaging Study onIn VivoDistribution and Pharmacokinetics of Modified Small Interfering RNAs (siRNAs)

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Mary Ann Liebert Inc, 2008

Published in: Oligonucleotides, 18 (2008) 3, Seite 201-212
Nicolle, Romain; Siquier-Pernet, Karine; Rio, Marlène; Guimier, Anne; Ollivier, Emmanuelle; Nitschke, Patrick; Bole-Feysot, Christine; Romana, Serge; Hastie, Alex; Cantagrel, Vincent; Malan, Valérie

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2022

Published in: European Journal of Human Genetics, 30 (2022) 6, Seite 712-720
Egloff, Matthieu; Nguyen, Lam-Son; Siquier-Pernet, Karine; Cormier-Daire, Valérie; Baujat, Geneviève; Attié-Bitach, Tania; Bole-Feysot, Christine; Nitschke, Patrick; Vekemans, Michel; Colleaux, Laurence; Malan, Valérie

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2018

Published in: European Journal of Human Genetics, 26 (2018) 6, Seite 912-918
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

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2016

Published in: European Journal of Human Genetics, 24 (2016) 3, Seite 455-458
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

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2016

Published in: Molecular Autism, 7 (2016) 1
Saadi, Abdelkrim; Verny, Florine; Siquier-Pernet, Karine; Bole-Feysot, Christine; Nitschke, Patrick; Munnich, Arnold; Abada-Dendib, Myriam; Chaouch, Malika; Abramowicz, Marc; Colleaux, Laurence

Refining the phenotype associated with CASC5 mutation

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2016

Published in: neurogenetics, 17 (2016) 1, Seite 71-78
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

Contiguous mutation syndrome in the era of high‐throughput sequencing

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2015

Published in: Molecular Genetics & Genomic Medicine, 3 (2015) 3, Seite 215-220
Langouët, Maéva; Saadi, Abdelkrim; Rieunier, Guillaume; Moutton, Sébastien; Siquier-Pernet, Karine; Fernet, Marie; Nitschke, Patrick; Munnich, Arnold; Stern, Marc-Henri; Chaouch, Malika; Colleaux, Laurence

Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Hindawi Limited, 2013

Published in: Human Mutation, 34 (2013) 11, Seite 1472-1476
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

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2023

Published in: BMC Medical Genomics, 16 (2023) 1
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

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2016

Published in: Orphanet Journal of Rare Diseases, 11 (2016) 1
Coolen, Marion; Altin, Nami; Rajamani, Karthyayani; Pereira, Eva; Siquier-Pernet, Karine; Puig Lombardi, Emilia; Moreno, Nadjeda; Barcia, Giulia; Yvert, Marianne; Laquerrière, Annie; Pouliet, Aurore; Nitschké, Patrick; Boddaert, Nathalie; Rausell, Antonio; Razavi, Féréchté; Afenjar, Alexandra; Billette de Villemeur, Thierry; Al-Maawali, Almundher; Al-Thihli, Khalid; Baptista, Julia; Beleza-Meireles, Ana; Garel, Catherine; Legendre, Marine; Gelot, Antoinette; [...]

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2022

Published in: The American Journal of Human Genetics, 109 (2022) 5, Seite 909-927
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan; El-Hattab, Ayman W

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Oxford University Press (OUP), 2022

Published in: Human Molecular Genetics, 31 (2022) 18, Seite 3083-3094
Chemin, Jean; Siquier-Pernet, Karine; Nicouleau, Michaël; Barcia, Giulia; Ahmad, Ali; Medina-Cano, Daniel; Hanein, Sylvain; Altin, Nami; Hubert, Laurence; Bole-Feysot, Christine; Fourage, Cécile; Nitschké, Patrick; Thevenon, Julien; Rio, Marlène; Blanc, Pierre; vidal, Céline; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Lyonnet, Stanislas; Boddaert, Nathalie; Fassi, Emily; Shinawi, Marwan; Zimmerman, Holly; [...]

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Oxford University Press (OUP), 2018

Published in: Brain, 141 (2018) 7, Seite 1998-2013
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

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2017

Published in: Nature Communications, 8 (2017) 1
Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria J.; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Michele B.; Day-Salvatore, Debra-Lynn; Jayakar, Parul; Vergano, Samantha A. Schrier; Tarnopolsky, Mark A.; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, Hakon

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2016

Published in: The American Journal of Human Genetics, 98 (2016) 4, Seite 782-788
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; [...]

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

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2015

Published in: Nature Neuroscience, 18 (2015) 12, Seite 1731-1736
Barbosa, Sónia; Greville-Heygate, Stephanie; Bonnet, Maxime; Godwin, Annie; Fagotto-Kaufmann, Christine; Kajava, Andrey V.; Laouteouet, Damien; Mawby, Rebecca; Wai, Htoo Aung; Dingemans, Alexander J.M.; Hehir-Kwa, Jayne; Willems, Marjorlaine; Capri, Yline; Mehta, Sarju G.; Cox, Helen; Goudie, David; Vansenne, Fleur; Turnpenny, Peter; Vincent, Marie; Cogné, Benjamin; Lesca, Gaëtan; Hertecant, Jozef; Rodriguez, Diana; Keren, Boris; [...]

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2020

Published in: The American Journal of Human Genetics, 106 (2020) 3, Seite 338-355
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.; [...]

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

American Society for Clinical Investigation, 2019

Published in: Journal of Clinical Investigation, 129 (2019) 3, Seite 1240-1256

You did not find what you were looking for?

Purchase suggestion
Are you missing something you need for your research? If you have any suggestions please share them here.

Interlibrary Loan
Please search and order your favorite title in the Interlibrary Loan Portal.

Search in field:

Recently searched for:

You did not find what you were looking for?

> Year of publication

Year of publication