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33 résultats

	Pour les 33 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

		Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Luitgard Graul-Neumann , Jacopo Azzollini , et al. Clinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩ Article dans une revue hal-01117251v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The histone methyltransferase NSD3 contributes to sister chromatid cohesion and to cohesin loading at mitotic exit Grégory Eot-Houllier , Laura Magnaghi-Jaulin , Gaëlle Bourgine , Fatima Smagulova , Régis Giet , et al. Journal of Cell Science, 2023, 136 (11), ⟨10.1242/jcs.261014⟩ Article dans une revue hal-04100216v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Integrated clinical and omics approach to rare diseases novel genes and oligogenic inheritance in holoprosencephaly Artem Kim , Clara Savary , Christèle Dubourg , Wilfrid Carré , Charlotte Mouden , et al. Brain - A Journal of Neurology , 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩ Article dans une revue hal-01975696v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetics of neural tube defects: new candidate genes and complex mode of inheritance Marie Faoucher , Artem Kim , Marie Beaumont , Wilfrid Carre , Hubert Journel , et al. European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.351-352. ⟨10.1038/s41431-021-01026-1⟩ Article dans une revue hal-03693275v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element Jessica Zuin , Valentina Casali , Jelena Pozojevic , Petros Kolovos , Mirjam C. G. N. van den Hout , et al. PLoS Genetics, 2017, 13 (12), pp.e1007137. ⟨10.1371/journal.pgen.1007137⟩ Article dans une revue hal-01688185v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly Artem Kim , Jérôme Le Douce , Farah Diab , Monika Ferorova , Christèle Dubourg , et al. European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.81-81. ⟨10.1038/s41431-021-01025-2⟩ Article dans une revue hal-03693286v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Aurora A kinase activity is required to maintain an active spindle assembly checkpoint during prometaphase Thibault Courtheoux , Alghassimou Diallo , Arun Prasath Damodaran , David Reboutier , Erwan Watrin , et al. Journal of Cell Science, 2018, 131 (7), pp.jcs191353. ⟨10.1242/jcs.191353⟩ Article dans une revue hal-01780367v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders Marie Beaumont , Linda Akloul , Wilfrid Carré , Chloé Quélin , Hubert Journel , et al. Human Genetics, 2019, 138 (4), pp.363-374. ⟨10.1007/s00439-019-01993-y⟩ Article dans une revue hal-02119226v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Sororin pre-mRNA splicing is required for proper sister chromatid cohesion in human cells. Erwan Watrin , Maria Demidova , Tanguy Watrin , Zheng Hu , Claude Prigent EMBO Reports, 2014, 15 (9), pp.948-955. ⟨10.15252/embr.201438640⟩ Article dans une revue inserm-01057472v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics Diana Braunholz , Carolin Obieglo , Ilaria Parenti , Jelena Pozojevic , Juliane Eckhold , et al. Human Mutation, 2015, 36 (1), pp.26-29. ⟨10.1002/humu.22685⟩ Article dans une revue hal-01064574v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy Anne-Claire Guenantin , Imen Jebeniani , Julia Leschik , Erwan Watrin , Gisèle Bonne , et al. Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI136488⟩ Article dans une revue hal-03134235v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution of hCAP-D2, a non-SMC subunit of condensin I, to chromosome and chromosomal protein dynamics during mitosis. Erwan Watrin , Vincent Legagneux Molecular and Cellular Biology, 2005, 25 (2), pp.740-50. ⟨10.1128/MCB.25.2.740-750.2005⟩ Article dans une revue inserm-00466947v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Ilaria Parenti , María E. Teresa-Rodrigo , Jelena Pozojevic , Sara Ruiz Gil , Ingrid Bader , et al. Human Genetics, 2017, 136 (3), pp.307-320. ⟨10.1007/s00439-017-1758-y⟩ Article dans une revue hal-01478812v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome I. Parenti , F. Diab , S.R. Gil , E. Mulugeta , V. Casa , et al. Cell Reports, 2020, 31 (7), pp.107647. ⟨10.1016/j.celrep.2020.107647⟩ Article dans une revue hal-02862830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Matthew A. Deardorff , Masashige Bando , Ryuichiro Nakato , Erwan Watrin , Takehiko Itoh , et al. Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩ Article dans une revue inserm-00728375v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein Artem Kim , Jérôme Le Douce , Farah Diab , Monika Ferovova , Christèle Dubourg , et al. Brain - A Journal of Neurology , 2020, 143 (7), pp.2027-2038. ⟨10.1093/brain/awaa152⟩ Article dans une revue hal-02888592v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Sister Chromatid Cohesion and Aneuploidy Erwan Watrin , Claude Prigent Zuzana Storchova. Aneuploidy in Health and Disease, InTech, pp.41-58, 2012, ⟨10.5772/34114⟩ Chapitre d'ouvrage inserm-00710406v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Kerstin S. Wendt , Erwan Watrin , et al. Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩ Article dans une revue istex hal-01255865v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recent advances in understanding inheritance of Holoprosencephaly Christèle Dubourg , Artem Kim , Erwan Watrin , Marie de Tayrac , Sylvie Odent , et al. American Journal of Medical Genetics Part C Seminar in Medical Genetics, 2018, Holoprosencephaly, 178 (2), pp.258-269. ⟨10.1002/ajmg.c.31619⟩ Article dans une revue hal-01812521v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Expression and functional dynamics of the XCAP-D2 condensin subunit in Xenopus laevis oocytes. Erwan Watrin , Fabien Cubizolles , Howard Beverley Osborne , Katherine Le Guellec , Vincent Legagneux Journal of Biological Chemistry, 2003, 278 (28), pp.25708-15. ⟨10.1074/jbc.M300192200⟩ Article dans une revue inserm-00292943v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel gene and pathomechanism in Cornelia de Lange syndrome I. Parenti , S. Ruiz Gil , J. Pie , T. M. Strom , R. Brouwer , et al. European Journal of Human Genetics, 2019, 27, pp.830-831 Article dans une revue hal-02355729v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells. Erwan Watrin , Jan-Michael Peters EMBO Journal, 2009, 28 (17), pp.2625-35. ⟨10.1038/emboj.2009.202⟩ Article dans une revue inserm-00406182v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Nucleolar association of pEg7 and XCAP-E, two members of Xenopus laevis condensin complex in interphase cells. Rustem Uzbekov , Elmira Timirbulatova , Erwan Watrin , Fabien Cubizolles , David Ogereau , et al. Journal of Cell Science, 2003, 116 (Pt 9), pp.1667-78. ⟨10.1242/jcs.00311⟩ Article dans une revue inserm-00467029v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dynamic ER Interactomes Control the Estrogen-Responsive Trefoil Factor (TFF) Locus Cell-Specific Activities. Justine Quintin , Christine Le Péron , Gaëlle Palierne , Maud Bizot , Stéphanie Cunha , et al. Molecular and Cellular Biology, 2014, 34 (13), pp.2418-2436. ⟨10.1128/MCB.00918-13⟩ Article dans une revue hal-00984591v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Alteration of SC35 localization by transfection reagents A.P. Damodaran , T. Courthéoux , Erwan Watrin , Claude Prigent Biochimica et Biophysica Acta - Molecular Cell Research, 2020, 1867 (4), pp.118650. ⟨10.1016/j.bbamcr.2020.118650⟩ Article dans une revue hal-02500548v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Multiple roles of Condensins: a complex story. Vincent Legagneux , Fabien Cubizolles , Erwan Watrin Biology of the Cell, 2004, 96 (3), pp.201-13. ⟨10.1016/j.biolcel.2004.01.003⟩ Article dans une revue inserm-00466987v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Aurora-A phosphorylates splicing factors and regulates alternative splicing Arun Prasath Damodaran , Olivia Gavard , Jean-Philippe Gagné , Malgorzata Ewa Rogalska , Estefania Mancini , et al. 2021 Pré-publication, Document de travail hal-03451784v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology Y. Kargapolova , R. Rehimi , H. Kayserili , J. Brühl , K. Sofiadis , et al. Nature Communications, 2021, 12 (1), pp.3014. ⟨10.1038/s41467-021-23327-1⟩ Article dans une revue hal-03283991v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Introduction to chromosome dynamics in mitosis. Erwan Watrin , Vincent Legagneux Biology of the Cell, 2003, 95 (8), pp.507-13. ⟨10.1016/j.biolcel.2003.08.003⟩ Article dans une revue inserm-00466990v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		SMC2, encoding a core component of the condensin complex, is mutated in Hallermann-Streiff syndrome: a condensinopathy revelation Farah Diab , Erwan Watrin , Yun Li , Gökhan Yigit , Bernd Wollnik EMBO workshop : Organisation of bacterial and eukaryotic genomes by SMC complexes, Sep 2019, Vienna (Austria), Austria Communication dans un congrès inserm-03855668v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

The histone methyltransferase NSD3 contributes to sister chromatid cohesion and to cohesin loading at mitotic exit

Integrated clinical and omics approach to rare diseases novel genes and oligogenic inheritance in holoprosencephaly

Genetics of neural tube defects: new candidate genes and complex mode of inheritance

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element

How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly

Aurora A kinase activity is required to maintain an active spindle assembly checkpoint during prometaphase

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

Sororin pre-mRNA splicing is required for proper sister chromatid cohesion in human cells.

Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy

Contribution of hCAP-D2, a non-SMC subunit of condensin I, to chromosome and chromosomal protein dynamics during mitosis.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Sister Chromatid Cohesion and Aneuploidy

Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction

Recent advances in understanding inheritance of Holoprosencephaly

Expression and functional dynamics of the XCAP-D2 condensin subunit in Xenopus laevis oocytes.

Novel gene and pathomechanism in Cornelia de Lange syndrome

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells.

Nucleolar association of pEg7 and XCAP-E, two members of Xenopus laevis condensin complex in interphase cells.

Dynamic ER Interactomes Control the Estrogen-Responsive Trefoil Factor (TFF) Locus Cell-Specific Activities.

Alteration of SC35 localization by transfection reagents

Multiple roles of Condensins: a complex story.

Aurora-A phosphorylates splicing factors and regulates alternative splicing

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

Introduction to chromosome dynamics in mitosis.

SMC2, encoding a core component of the condensin complex, is mutated in Hallermann-Streiff syndrome: a condensinopathy revelation