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authIdHal_s : laurence-colleaux

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

F. Bonnet , A Andrieux , D Béri-Dexheimer , L Leheup , B Boute et al.
Journal of Medical Genetics, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩
Journal articles hal-02128729v1
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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen , Marylin Lepleux , Mélanie Makhlouf , Christelle Martin , Julien Fregeac et al.
Molecular Autism, 2016, 7 (1), pp.1. ⟨10.1186/s13229-015-0064-6⟩
Journal articles inserm-01252689v1

Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.

Laurence Colleaux , P Colleaux , C. Rougeulle , P. Avner , B. Dujon et al.
Human Molecular Genetics, 1993, 2 (3), pp.265-71. ⟨10.1093/hmg/2.3.265⟩
Journal articles istex hal-02088067v1
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Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands

Laurence Colleaux , Melanie May , Jérôme Belougne , Denis Lepaslier , Charles Schwartz et al.
Journal of Medical Genetics, 1996, 33, pp.353 - 357
Journal articles hal-02044588v1
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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck , Anahi Mollà-Herman , Nathalie Boddaert , Ferechte Encha-Razavi , Anne Philippe et al.
Human Mutation, 2008, 29 (7), pp.966-974. ⟨10.1002/humu.20531⟩
Journal articles hal-02044435v1
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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K Ruzzo , José-Mario Capo-Chichi , Bruria Ben-Zeev , David Chitayat , Hanqian Mao et al.
Neuron, 2013, 80 (2), pp.429-441. ⟨10.1016/j.neuron.2013.08.013⟩
Journal articles hal-02044453v1

Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron

Claude Monteilhet , Arnaud Perrin , Agnès Thierry , Laurence Colleaux , Bernard Dujon et al.
Nucleic Acids Research, 1990, 18 (6), pp.1407-13. ⟨10.1093/nar/18.6.1407⟩
Journal articles hal-02090248v1

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase

Carlos Cardoso , Charles Schwartz , Michel Fontes , Laurent Villard , Anne-Marie Lossi et al.
Genomics, 1997, 43 (2), pp.149-155. ⟨10.1006/geno.1997.4793⟩
Journal articles istex hal-02090255v1

Generation and characterization of an ordered lambda clone array for the 460-kb region surrounding the murine Xist sequence

C. Rougeulle , Laurence Colleaux , B. Dujon , Philip Avner
Mammalian Genome, 1994, 5 (7), pp.416-423. ⟨10.1007/BF00357001⟩
Journal articles istex hal-02090228v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1
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Universal Code Equivalent of a Yeast Mitochondrial lntron Reading Frame Is Expressed into E. coli as a Specific Double Strand Endonuclease

Laurence Colleaux , L d'Auriol , M Betermiert , G Cottarel , : A Jacquier et al.
Cell, 1986, 44, pp.521 - 533
Journal articles hal-02044365v1

Refining the phenotype associated with CASC5 mutation

Abdelkrim Saadi , Florine Verny , Karine Siquier-Pernet , Christine Bole-Feysot , Patrick Nitschke et al.
neurogenetics, 2016, 17 (1), pp.71-78. ⟨10.1007/s10048-015-0468-7⟩
Journal articles hal-02090200v1

Contiguous mutation syndrome in the era of high-throughput sequencing

Maéva Langouët Langouët , Karine Siquier-Pernet , Sylvia Sanquer , Christine Bole-Feysot , Patrick Nitschke et al.
Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.215-220. ⟨10.1002/mgg3.134⟩
Journal articles hal-02087771v1
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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Daniel Medina-Cano , Ekin Ucuncu , Lam Nguyen , Michael Nicouleau , Joanna Lipecka et al.
Journal articles hal-02347168v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Brechet , Rebecca Buchert , Jochen Schwenk , Sami Boudkkazi , Gerd Zolles et al.
Nature Communications, 2017, 8, pp.15910. ⟨10.1038/ncomms15910⟩
Journal articles hal-02044718v1

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

Claire Rougeulle , Carlos Cardoso , Michel Fontés , Laurence Colleaux , Marc Lalande et al.
Nature Genetics, 1998, 19 (1), pp.15-16. ⟨10.1038/ng0598-15⟩
Journal articles hal-03030602v1
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh Pant , Imen Dorboz , Agatha Schluter , Stéphane Fourcade , Nathalie Launay et al.
Journal of Clinical Investigation, 2019, 129 (3), pp.1240-1256. ⟨10.1172/JCI123959⟩
Journal articles hal-02087782v1

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari , Francois Foulquier , Patrick Tarpey , Willy Morelle , Sarah Boissel et al.
American Journal of Human Genetics, 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
Journal articles hal-02142197v1

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

N. Philip , Laurence Colleaux , S. Sigaudy , T. Attié-Bitach , C. Missirian et al.
American Journal of Medical Genetics Part A, 2005, 134A (1), pp.39-44. ⟨10.1002/ajmg.a.30468⟩
Journal articles istex hal-02142187v1

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang , Jiqiang Ling , Giulia Barcia , Lili Jing , Jiang Wu et al.
American Journal of Human Genetics, 2014, 94 (4), pp.547-558. ⟨10.1016/j.ajhg.2014.03.003⟩
Journal articles hal-02142133v1

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

Satoru Hashimoto , Sarah Boissel , Mohammed Zarhrate , Marlène Rio , Arnold Munnich et al.
Science, 2011, 333 (6046), pp.1161-1163. ⟨10.1126/science.1206638⟩
Journal articles hal-02124675v1

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel van Maldergem , Qingming Hou , Vera Kalscheuer , Marlène Rio , Martine Doco-Fenzy et al.
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Journal articles hal-02124657v1
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Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders

Fabrice Laroche , Nicolas Ramoz , Sophie Leroy , Célia Fortin , Bérangère Rousselot-Paillet et al.
Psychiatric Genetics, 2008, 18 (6), pp.295-301. ⟨10.1097/YPG.0b013e3283060fa5⟩
Journal articles hal-02044466v1

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

Matthieu Egloff , Lam-Son Nguyen , Karine Siquier-Pernet , Valérie Cormier-Daire , Geneviève Baujat et al.
European Journal of Human Genetics, 1970, 26 (6), pp.912-918. ⟨10.1038/s41431-018-0124-4⟩
Journal articles hal-02087837v1

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

Xavier Lahaye , Matteo Gentili , Aymeric Silvin , Cécile Conrad , Léa Picard et al.
Cell, 2018, 175 (2), pp.488-501.e22. ⟨10.1016/j.cell.2018.08.062⟩
Journal articles hal-02087780v1

Sequence of a segment of yeast chromosome XI identifies a new mitochondrial carrier, a new member of the G protein family, and a protein with the PAAKK motif of the H1 histones.

Laurence Colleaux , G Richard , A. Thierry , B. Dujon
Yeast, 1992, 8 (4), pp.325-36. ⟨10.1002/yea.320080410⟩
Journal articles hal-02088066v1

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Geneviève Baujat , Marlène Rio , Sylvie Rossignol , Damien Sanlaville , Stanislas Lyonnet et al.
American Journal of Human Genetics, 2004, 74 (4), pp.715-720. ⟨10.1086/383093⟩
Journal articles hal-02090156v1

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

Dennis Mircsof , Maéva Langouët Langouët , Marlène Rio , Sébastien Moutton , Karine Siquier-Pernet et al.
Nature Neuroscience, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩
Journal articles hal-02088168v1
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Déficiences intellectuelles

Wil Buntinx , Christine Cans , Laurence Colleaux , Yannick Courbois , Martin Debbané et al.
[Rapport de recherche] Institut national de la santé et de la recherche médicale(INSERM). 2016, Paris : Inserm : Éditions EDP Sciences (ISSN : 1264-1782) / 1420 p
Reports inserm-02102567v1
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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel , Orit Reish , Karine Proulx , Hiroko Kawagoe-Takaki , Barbara Sedgwick et al.
American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
Journal articles hal-02044723v1