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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu
,
Klaus Wrogemann
,
Vera Kalscheuer
,
Andreas Tzschach
,
Hugues Richard
,
et al.
Journal articles
hal-04121616v1
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Differentially activated macrophages orchestrate myogenic precursor cell fate during human skeletal muscle regeneration.
Marielle Saclier
,
Houda Yacoub-Youssef
,
Abigail Mackey
,
Ludovic Arnold
,
Hamida Ardjoune
,
et al.
Journal articles
inserm-00787108v1
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Catherine Fallet-Bianco
,
Annie Laquerrière
,
Karine Poirier
,
Ferechte Razavi
,
Fabien Guimiot
,
et al.
Journal articles
inserm-01089369v1
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Karine Poirier
,
Nicolas Lebrun
,
Loic Broix
,
Guoling Tian
,
Yoann Saillour
,
et al.
Journal articles
inserm-00838073v1
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A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33
Carolina Sismani
,
Maria Syrrou
,
Kyproula Christodoulou
,
Ben Hamel
,
Jamel Chelly
,
et al.
Journal articles
istex
hal-04153034v1
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Specific clinical and brain MRI features in mentally retarded patients with mutations in theOligophrenin-1 gene
Vincent Des Portes
,
Nathalie Boddaert
,
Silvia Sacco
,
Sylvain Briault
,
Kim Maincent
,
et al.
Journal articles
istex
hal-04137632v1
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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium
Vincent Des Portes
,
Cherif Beldjord
,
Jamel Chelly
,
Ben Hamel
,
Hannie Kremer
,
et al.
Journal articles
istex
hal-04056950v1
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Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
Regis Lopez
,
Francois Rivier
,
Jamel Chelly
,
Yves Dauvilliers
Journal articles
hal-02265333v1
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Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny
Johan G Gilet
,
Ekaterina Ivanova
,
Daria Trofimova
,
Gabrielle Rudolf
,
Hamid Meziane
,
et al.
Journal articles
inserm-02551504v1
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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
Sarah A. Shoichet
,
Kirsten Hoffmann
,
Corinna Menzel
,
Udo Trautmann
,
Bettina Moser
,
et al.
American Journal of Human Genetics, 2003, 73 (6), pp.1341-1354. ⟨10.1086/380309⟩
Journal articles
hal-04153033v1
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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Ekaterina Ivanova
,
Johan Gilet
,
Vadym Sulimenko
,
Arnaud Duchon
,
Gabrielle Rudolf
,
et al.
Journal articles
hal-02388602v1
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Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family
Magdalena Nawara
,
Jakub Klapecki
,
Katarzyna Borg
,
Marta Jurek
,
Sarah Moreno
,
et al.
Journal articles
istex
hal-04121885v1
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Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
Pierre Billuart
,
Jamel Chelly
,
Alain Carrié
,
Marie-Claude Vinet
,
Philippe Couvert
,
et al.
Journal articles
istex
hal-04091998v1
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Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation
K. Poirier
,
J. Abriol
,
I. Souville
,
C. Laroche-Raynaud
,
C. Beldjord
,
et al.
Journal articles
istex
hal-04129743v1
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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Frédéric Laumonnier
,
Nathalie Ronce
,
Ben C.J. Hamel
,
Paul Thomas
,
James Lespinasse
,
et al.
American Journal of Human Genetics, 2002, 71 (6), pp.1450-1455. ⟨10.1086/344661⟩
Journal articles
hal-04152275v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
,
Thomas Besnard
,
Martina Proietti Onori
,
Xénia Latypova
,
et al.
Journal articles
inserm-01813739v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Aurore Curie
,
Tatjana Nazir
,
Amandine Brun
,
Yves Paulignan
,
Anne Reboul
,
et al.
Journal articles
hal-01020483v1
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Nonsyndromic X-linked mental retardation: where are the missing mutations?
Hans-Hilger Ropers
,
Maria Hoeltzenbein
,
Vera Kalscheuer
,
Helger Yntema
,
Ben Hamel
,
et al.
Journal articles
istex
hal-04152593v1
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation
Armand Bottani
,
Jamel Chelly
,
Arjan P.M. de Brouwer
,
Bruno Pardo
,
Mandy Barker
,
et al.
Journal articles
istex
hal-04119105v1
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MECP2 is highly mutated in X-linked mental retardation
Philippe Couvert
,
Thierry Bienvenu
,
Cecile Aquaviva
,
Karine Poirier
,
Claude Moraine
,
et al.
Journal articles
hal-04142877v1
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TheARX mutations: A frequent cause of X-linked mental retardation
Magdalena Nawara
,
Krzysztof Szczaluba
,
Karine Poirier
,
Krystyna Chrzanowska
,
Jacek Pilch
,
et al.
Journal articles
istex
hal-04092009v1
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Calpain 10 and development of diabetes mellitus in cystic fibrosis
Salma Derbel
,
Celine Doumaguet
,
Dominique Hubert
,
Helene Mosnier-Pudar
,
Sophie Grabar
,
et al.
Journal articles
hal-04092543v1
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg
,
A De Brouwer
,
T Kleefstra
,
A Oudakker
,
S Frints
,
et al.
Journal articles
hal-04093731v1
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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.
Isabelle Desguerre
,
Christo Christov
,
Michele Mayer
,
Reinhard Zeller
,
Henri-Marc Becane
,
et al.
Journal articles
inserm-00447998v1
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Xavier Hubert Jaglin
,
Karine Poirier
,
Yoann Saillour
,
Emmanuelle Buhler
,
Guoling Tian
,
et al.
Journal articles
inserm-00404834v1
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
Cecile Pagan
,
Hany Goubran Botros
,
Karine Poirier
,
Anne Dumaine
,
Stéphane Jamain
,
et al.
Journal articles
inserm-00610655v1
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WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy
Binnaz Yalcin
,
Meghna Kannan
,
Christel Wagner
,
Marna Roos
,
Bruno Rinaldi
,
et al.
51st European Society of Human Genetics (ESHG) Conference, May 2017, Milano, Italy. pp.111
Conference papers
hal-02378786v1
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Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development
Loïc Broix
,
Laure Asselin
,
Carla Silva
,
Ekaterina Ivanova
,
Peggy Tilly
,
et al.
Journal articles
hal-03825521v1
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A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations
Aline Dubos
,
Hamid Meziane
,
Giovanni Iacono
,
Aurore Curie
,
Fabrice Riet
,
et al.
Journal articles
hal-03664342v1
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
Mathilde Renaud
,
Christophe Marcel
,
Gabrielle Rudolf
,
Mickaël Schaeffer
,
Ouhaid Lagha-Boukbiza
,
et al.
Journal articles
inserm-02052273v1
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