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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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RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome
Léo Mietton
,
Nicolas Lebrun
,
Irina Giurgea
,
Alice Goldenberg
,
Benjamin Saintpierre
,
et al.
Journal articles
inserm-03798407v1
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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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Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1
Noemie Cresto
,
Nicolas Lebrun
,
Florent Dumont
,
Franck Letourneur
,
Pierre Billuart
,
et al.
Journal articles
inserm-03684170v1
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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
Caroline Nava
,
Johanna Rupp
,
Jean-Paul Boissel
,
Cyril Mignot
,
Agnès Rastetter
,
et al.
Journal articles
hal-01191525v1
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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Karine Poirier
,
Yoann Saillour
,
Nadia Bahi-Buisson
,
Xavier Jaglin
,
Catherine Fallet-Bianco
,
et al.
Journal articles
hal-04050252v1
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Molecular and cellular issues of kmt2a variants involved in wiedemann-steiner syndrome
Nicolas Lebrun
,
Alexandra Afenjar
,
Irina Giurgea
,
Alice Goldenberg
,
Anne Dieux
,
et al.
Journal articles
hal-03351319v1
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MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes
Marine Brousseau
,
Juliette Nectoux
,
Benjamin Saintpierre
,
Nicolas Lebrun
,
Nicolas Cagnard
,
et al.
Journal articles
inserm-02571291v1
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Mariana Ramos-Brossier
,
Caterina Montani
,
Nicolas Lebrun
,
Laura Gritti
,
Christelle Martin
,
et al.
Human Molecular Genetics, 2014, pp.523
Journal articles
inserm-01102927v1
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Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice
Rim Hassouna
,
Gimena Fernandez
,
Nicolas Lebrun
,
Oriane Fiquet
,
Ferdinand Roelfsema
,
et al.
Journal articles
hal-03417139v1
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