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 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.
Journal articles
inserm-01252689v1
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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.
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.
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.
Journal articles
hal-02044453v1
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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.
Journal articles
hal-02090248v1
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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.
Journal articles
istex
hal-02090255v1
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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
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.
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
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Refining the phenotype associated with CASC5 mutation
Abdelkrim Saadi
,
Florine Verny
,
Karine Siquier-Pernet
,
Christine Bole-Feysot
,
Patrick Nitschke
et al.
Journal articles
hal-02090200v1
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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.
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.
Journal articles
hal-02044718v1
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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
Claire Rougeulle
,
Carlos Cardoso
,
Michel Fontés
,
Laurence Colleaux
,
Marc Lalande
et al.
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 articles
hal-02087782v1
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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Florence Molinari
,
Francois Foulquier
,
Patrick Tarpey
,
Willy Morelle
,
Sarah Boissel
et al.
Journal articles
hal-02142197v1
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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.
Journal articles
istex
hal-02142187v1
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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.
Journal articles
hal-02142133v1
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MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression
Satoru Hashimoto
,
Sarah Boissel
,
Mohammed Zarhrate
,
Marlène Rio
,
Arnold Munnich
et al.
Journal articles
hal-02124675v1
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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.
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.
Journal articles
hal-02044466v1
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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.
Journal articles
hal-02087837v1
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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.
Journal articles
hal-02087780v1
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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
Journal articles
hal-02088066v1
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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.
Journal articles
hal-02090156v1
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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.
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
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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.
Journal articles
hal-02044723v1
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