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authFullName_s : Jamel Chelly

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.
The HUGO Journal, 2009, 3 (1-4), pp.41-49. ⟨10.1007/s11568-010-9137-y⟩
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.
Stem Cells / Stem Cells (Miamisburg), 2013, 31 (2), pp.384-96. ⟨10.1002/stem.1288⟩
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.
Acta Neuropathologica Communications, 2014, 2 (1), pp.69. ⟨10.1186/2051-5960-2-69⟩
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.
Nature Genetics, 2013, 45 (6), pp.639-47. ⟨10.1038/ng.2613⟩
Journal articles inserm-00838073v1

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.
American Journal of Medical Genetics Part A, 2003, 122A (1), pp.46-50. ⟨10.1002/ajmg.a.20284⟩
Journal articles istex hal-04153034v1

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.
American Journal of Medical Genetics, 2004, 124A (4), pp.364-371. ⟨10.1002/ajmg.a.20422⟩
Journal articles istex hal-04137632v1

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.
American Journal of Medical Genetics, 1999, 85 (3), pp.263-265. ⟨10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>;2-0⟩
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
Annals of Clinical and Translational Neurology, 2019, 6 (9), pp.1900-1904. ⟨10.1002/acn3.50866⟩
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.
Human Molecular Genetics, 2020, 29 (5), pp.766-784. ⟨10.1093/hmg/ddz316⟩
Journal articles inserm-02551504v1

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.
Nature Communications, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩
Journal articles hal-02388602v1

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.
American Journal of Medical Genetics Part A, 2008, 146A (24), pp.3167-3172. ⟨10.1002/ajmg.a.32613⟩
Journal articles istex hal-04121885v1

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.
Annales de Génétique, 2000, 43 (1), pp.5-9. ⟨10.1016/S0003-3995(00)00015-0⟩
Journal articles istex hal-04091998v1

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.
Human Genetics, 2005, 118 (1), pp.45-48. ⟨10.1007/s00439-005-0011-2⟩
Journal articles istex hal-04129743v1

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.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
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.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Hans-Hilger Ropers , Maria Hoeltzenbein , Vera Kalscheuer , Helger Yntema , Ben Hamel , et al.
Trends in Genetics, 2003, 19 (6), pp.316-320. ⟨10.1016/S0168-9525(03)00113-6⟩
Journal articles istex hal-04152593v1

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.
American Journal of Medical Genetics Part A, 2007, 143A (8), pp.888-890. ⟨10.1002/ajmg.a.31651⟩
Journal articles istex hal-04119105v1

MECP2 is highly mutated in X-linked mental retardation

Philippe Couvert , Thierry Bienvenu , Cecile Aquaviva , Karine Poirier , Claude Moraine , et al.
Human Molecular Genetics, 2001, 10 (9), pp.941-946. ⟨10.1093/hmg/10.9.941⟩
Journal articles hal-04142877v1

TheARX mutations: A frequent cause of X-linked mental retardation

Magdalena Nawara , Krzysztof Szczaluba , Karine Poirier , Krystyna Chrzanowska , Jacek Pilch , et al.
American Journal of Medical Genetics Part A, 2006, 140A (7), pp.727-732. ⟨10.1002/ajmg.a.31151⟩
Journal articles istex hal-04092009v1

Calpain 10 and development of diabetes mellitus in cystic fibrosis

Salma Derbel , Celine Doumaguet , Dominique Hubert , Helene Mosnier-Pudar , Sophie Grabar , et al.
Journal of Cystic Fibrosis, 2006, 5 (1), pp.47-51. ⟨10.1016/j.jcf.2005.09.011⟩
Journal articles hal-04092543v1

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 of Medical Genetics, 2005, 43 (4), pp.362-370. ⟨10.1136/jmg.2005.036178⟩
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.
PLoS ONE, 2009, 4 (2), pp.e4347. ⟨10.1371/journal.pone.0004347⟩
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.
Nature Genetics, 2009, 41 (6), pp.746-752. ⟨10.1038/ng.380⟩
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.
BMC Medical Genetics, 2011, 12 (1), pp.17. ⟨10.1186/1471-2350-12-17⟩
Journal articles inserm-00610655v1

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

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.
Human Molecular Genetics, 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
Journal articles hal-03825521v1

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.
Human Molecular Genetics, 2018, 27 (12), pp.2138-2153. ⟨10.1093/hmg/ddy122⟩
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.
BMC Neurology, 2016, 16 (1), pp.238. ⟨10.1186/s12883-016-0748-3⟩
Journal articles inserm-02052273v1