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	Pour les 48 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus Ariane Dimitrov , Vincent Paupe , Charles Gueudry , Jean-Baptiste Sibarita , Graça Raposo , et al. Human Molecular Genetics, 2009, 18 (3), pp.440-453. ⟨10.1093/hmg/ddn371⟩ Article dans une revue hal-02342676v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report Annette Uwineza , Jean-Hubert Caberg , Janvier Hitayezu , Stephane Wenric , Leon Mutesa , et al. European Journal of Medical Genetics, 2019, 62 (8), pp.103704. ⟨10.1016/j.ejmg.2019.103704⟩ Article dans une revue hal-02859833v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Golgipathies in Neurodevelopment: A New View of Old Defects Sowmyalakshmi Rasika , Sandrine Passemard , Alain Verloes , Pierre Gressens , Vincent El ghouzzi Developmental Neuroscience, 2019, 40 (5-6), pp.396-416. ⟨10.1159/000497035⟩ Article dans une revue hal-02322665v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Novel RAB33B Mutation in Smith-McCort Dysplasia Nina Dupuis , Sophie Lebon , Manoj Kumar , Séverine Drunat , Luitgard Graul-Neumann , et al. Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩ Article dans une revue hal-02342666v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits Romain Fontaine , Paul Olivier , Véronique Massonneau , Philippe Leroux , Vincent Degos , et al. Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (43), pp.16779-16784. ⟨10.1073/pnas.0803004105⟩ Article dans une revue hal-02342678v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation Malika Yousfi , Francoise Lasmoles , Vincent El Ghouzzi , Pierre J. Marie Human Molecular Genetics, 2002, 11 (4), pp.359-369. ⟨10.1093/hmg/11.4.359⟩ Article dans une revue hal-02342808v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Abstracts from the 50th European Society of Human Genetics Conference: Posters Sandrine Passemard , Kosuke Izumi , M Brett , E Nishi , Severine Drunat , et al. European Journal of Human Genetics, 2019, 26 (S1), pp.113-819. ⟨10.1038/s41431-018-0247-7⟩ Article dans une revue hal-02324026v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location Vincent El Ghouzzi , Laurence Legeai-Mallet , Sandra Aresta , Catherine Benoist , Arnold Munnich , et al. Human Molecular Genetics, 2000, 9 (5), pp.813-819. ⟨10.1093/hmg/9.5.813⟩ Article dans une revue hal-02342813v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation David Genevieve , Delphine Héron , Vincent El Ghouzzi , Catherine Prost-Squarcioni , Martine Le Merrer , et al. European Journal of Human Genetics, 2005, 13 (5), pp.541-546. ⟨10.1038/sj.ejhg.5201339⟩ Article dans une revue hal-02342690v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53 Vincent El Ghouzzi , Federico Bianchi , Ivan Molineris , Bryan Mounce , Gaia Berto , et al. Cell Death and Disease, 2016, 7, pp.e2440. ⟨10.1038/cddis.2016.266⟩ Article dans une revue hal-02323045v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies” Sandrine Passemard , Franck Perez , Emilie Colin-Lemesre , Sowmyalakshmi Rasika , Pierre Gressens , et al. Progress in Neurobiology, 2017, 153 (3), pp.46-63. ⟨10.1016/j.pneurobio.2017.03.007⟩ Article dans une revue hal-02322811v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome Vincent El Ghouzzi , Nathalie Dagoneau , Esther Kinning , Christel Thauvin-Robinet , Wassim Chemaitilly , et al. Human Molecular Genetics, 2003, 12 (3), pp.357-364. ⟨10.1093/hmg/ddg029⟩ Article dans une revue hal-02342802v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations of the TWIST gene in the Saethre-Chotzene syndrome V El Ghouzzi , M. Le Merrer , Fabienne Perrin-Schmitt , Elisabeth Lajeunie , Paule Bénit , et al. Nature Genetics, 1997, 15 (1), pp.42-46. ⟨10.1038/ng0197-42⟩ Article dans une revue hal-02342823v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling Zsolt Csaba , Benjamin Lelouvier , Cécile Viollet , Vincent El Ghouzzi , Kiyoko Toyama , et al. Traffic, 2007, 8 (7), pp.820-834. ⟨10.1111/j.1600-0854.2007.00580.x⟩ Article dans une revue hal-02342680v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recent advances in Dyggve–Melchior–Clausen syndrome Vincent Paupe , Thierry Gilbert , Martine Le Merrer , Arnold Munnich , Valérie Cormier-Daire , et al. Molecular Genetics and Metabolism, 2004, 83 (1-2), pp.51-59. ⟨10.1016/j.ymgme.2004.08.012⟩ Article dans une revue hal-02342692v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia Luitgard Neumann , Vincent El Ghouzzi , Vincent Paupe , Hans-Peter Weber , Elisabeth Fastnacht , et al. American Journal of Medical Genetics Part A, 2006, 140A (5), pp.421-426. ⟨10.1002/ajmg.a.31090⟩ Article dans une revue istex hal-02342682v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome Dominique Renier , V El-Ghouzzi , Jacky Bonaventure , Martine Le Merrer , Elizabeth Lajeunie , et al. Journal of Neurosurgery, 2000, 92 (4), pp.631-636. ⟨10.3171/jns.2000.92.4.0631⟩ Article dans une revue hal-02342812v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Endoplasmic reticulum and Golgi stress in microcephaly Sandrine Passemard , Franck Perez , Pierre Gressens , Vincent El ghouzzi Cell Stress, 2019 Article dans une revue hal-02340189v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans Nina Dupuis , Assia Fafouri , Aurélien Bayot , Manoj Kumar , Tifenn Lecharpentier , et al. Human Molecular Genetics, 2015, 24 (10), pp.2771-2783. ⟨10.1093/hmg/ddv038⟩ Article dans une revue hal-02324809v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cortical organoids to model microcephaly Sarah Farcy , Alexandra Albert , Pierre Gressens , Alexandre D Baffet , Vincent El Ghouzzi Cells, 2022, 11 (14), pp.2135. ⟨10.3390/cells11142135⟩ Article dans une revue hal-03716249v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		STIL balancing primary microcephaly and cancer Dhruti Patwardhan , Shyamala Mani , Sandrine Passemard , Pierre Gressens , Vincent El Ghouzzi Cell Death and Disease, 2018, 9 (2), ⟨10.1038/s41419-017-0101-9⟩ Article dans une revue hal-02322706v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Molecular and cellular bases of syndromic craniosynostoses Jacky Bonaventure , Vincent El Ghouzzi Expert Reviews in Molecular Medicine, 2003, 5 (4), pp.1-17. ⟨10.1017/S1462399403005751⟩ Article dans une revue hal-02342693v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Craniosynostosis and fetal exposure to sodium valproate Elizabeth Lajeunie , Uli Barcik , John Thorne , V El Ghouzzi , Marie Bourgeois , et al. Journal of Neurosurgery, 2001, 95 (5), pp.778-782. ⟨10.3171/jns.2001.95.5.0778⟩ Article dans une revue hal-02342809v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons Rupali Srivastava , Manoj Kumar , Stéphane Peineau , Zsolt Csaba , Shyamala Mani , et al. STEM CELLS, 2013, 31 (4), pp.652-665. ⟨10.1002/stem.1295⟩ Article dans une revue hal-02342661v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A new lysosomal storage disorder resembling Morquio syndrome in sibs Laurence Perrin , Odile Fenneteau , Brice Ilharreborde , Yline Capri , Marion Gérard , et al. European Journal of Medical Genetics, 2012, 55 (3), pp.157-162. ⟨10.1016/j.ejmg.2012.01.001⟩ Article dans une revue istex hal-02342667v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions Jean-Jacques Brière , Judith Favier , Paule Bénit , Vincent El Ghouzzi , Annalisa Lorenzato , et al. Human Molecular Genetics, 2005, 14 (21), pp.3263-3269. ⟨10.1093/hmg/ddi359⟩ Article dans une revue hal-02342685v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 Xavier de Mollerat , Fiorella Gurrieri , Chad Morgan , Eugenio Sangiorgi , David Everman , et al. Human Molecular Genetics, 2003, 12 (16), pp.1959-1971. ⟨10.1093/hmg/ddg212⟩ Article dans une revue hal-02342801v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome Elisabeth Lajeunie , Solange Heuertz , Vincent El Ghouzzi , Jelena Martinovic , Dominique Renier , et al. European Journal of Human Genetics, 2006, 14 (3), pp.289-298. ⟨10.1038/sj.ejhg.5201558⟩ Article dans une revue hal-02342683v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Golgi Dysfunctions in Ciliopathies Justine Masson , Vincent El Ghouzzi Cells, 2022, ⟨10.3390/cells11182773⟩ Article dans une revue hal-03770350v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory Sandrine Passemard , Alain Verloes , Thierry Billette de Villemeur , Odile Boespflug-Tanguy , Karen Hernandez , et al. Cortex, 2016, 74, pp.158-176. ⟨10.1016/j.cortex.2015.10.010⟩ Article dans une revue hal-02324797v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

Golgipathies in Neurodevelopment: A New View of Old Defects

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits

Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation

Abstracts from the 50th European Society of Human Genetics Conference: Posters

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling

Recent advances in Dyggve–Melchior–Clausen syndrome

Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

Endoplasmic reticulum and Golgi stress in microcephaly

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Cortical organoids to model microcephaly

STIL balancing primary microcephaly and cancer

Molecular and cellular bases of syndromic craniosynostoses

Craniosynostosis and fetal exposure to sodium valproate

Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons

A new lysosomal storage disorder resembling Morquio syndrome in sibs

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Golgi Dysfunctions in Ciliopathies

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory