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	Pour les 44 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

		Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Caroline Kannengiesser , Borie Raphael , Christelle Ménard , Marion Réocreux , Patrick Nitschké , et al. European Respiratory Journal, 2015, 46 (2), pp.474-485. ⟨10.1183/13993003.00710-2015⟩ Article dans une revue hal-01214563v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis Pierre-Antoine Juge , Raphaël Borie , Caroline Kannengiesser , Steven Gazal , Patrick Revy , et al. European Congress of Rheumatology, Jun 2017, Madrid (ES), Spain Poster de conférence inserm-04161379v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome Stéphanie Rigaud , Marie-Claude Fondanèche , Nathalie Lambert , Benoit Pasquier , Véronique Mateo , et al. Nature, 2006, 444 (7115), pp.110-114. ⟨10.1038/nature05257⟩ Article dans une revue istex hal-03654840v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans Mauro Modesti , Marie Chansel-da Cruz , Marcel Hohl , Ilaria Ceppi , Laëtitia Kermasson , et al. Cell Reports, 2020, 33 (13), pp.108559. ⟨10.1016/j.celrep.2020.108559⟩ Article dans une revue hal-03438613v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome Christelle C. Arrondel , Sophia Missoury , Rozemarijn Snoek , Julie Patat , Giulia Menara , et al. Nature Communications, 2019, 10 (1), pp.3967. ⟨10.1038/s41467-019-11951-x⟩ Article dans une revue inserm-02322309v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Severe hematologic complications after lung transplantation in patients with telomerase complex mutations Raphael Borie , Caroline Kannengiesser , Sandrine Hirschi , Jérôme Le Pavec , Hervé Mal , et al. The Journal of Heart and Lung Transplantation, 2015, 34 (4), pp.538--546. ⟨10.1016/j.healun.2014.11.010⟩ Article dans une revue hal-01146848v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Expanding the SRI domain family: A common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II Joseph Rebehmed , Patrick Revy , Guilhem Faure , Jean-Pierre de Villartay , Isabelle Callebaut FEBS Letters, 2014, 588 (23), pp.4431-4437. ⟨10.1016/j.febslet.2014.10.014⟩ Article dans une revue hal-01084875v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome Fabien Touzot , Isabelle Callebaut , Jean Soulier , Laetitia Gaillard , Chantal Azerrad , et al. Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (22), pp.10097-102. ⟨10.1073/pnas.0914918107⟩ Article dans une revue hal-00484901v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Geraldine Mollet , David Schapiro , Marie-Claire Daugeron , Weizhen Tan , Olivier Gribouval , et al. Nature Genetics, 2017, ⟨10.1038/ng.3933⟩ Article dans une revue hal-02187752v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome Maname Benyelles , Laetitia Kermasson , Elodie Lainey , Raphael Borie , Chantal Lagresle-Peyrou , et al. Human Molecular Genetics, 2020, ⟨10.1093/hmg/ddaa011⟩ Article dans une revue hal-02458897v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia Emilie Lesport , Alina Ferster , Armand Biver , Benoit Roch , Nadia Vasquez , et al. Oncotarget, 2017, 9 (3), pp.3779-3793. ⟨10.18632/oncotarget.23375⟩ Article dans une revue pasteur-02867459v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation Tangui Le Guen , Fabien Touzot , Isabelle André-Schmutz , Chantal Lagresle-Peyrou , Benoit France , et al. Journal of Allergy and Clinical Immunology, 2015, 136, pp.1619-26. ⟨10.1016/j.jaci.2015.06.008⟩ Article dans une revue hal-01252419v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Human RTEL1 deficiency causes Hoyeraal- Hreidarsson syndrome with short telomeres and genome instability Tangui Leguen , Laurent Jullien , Fabien Touzot , Michael Schertzer , Laetitia Gaillard , et al. Human Molecular Genetics, 2013, 22 (16), pp.3239-3249. ⟨10.1093/hmg/ddt178⟩ Article dans une revue hal-00858583v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue Richa Sharma , Sushree Sahoo , Masayoshi Honda , Sophie Granger , Charnise Goodings , et al. Blood, 2021, ⟨10.1182/blood.2021011980⟩ Article dans une revue hal-03431979v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue Richa Sharma , Sushree Sahoo , Masayoshi Honda , Sophie Granger , Charnise Goodings , et al. Blood, 2022, 139 (7), pp.1039-1051. ⟨10.1182/blood.2021011980⟩ Article dans une revue hal-03622424v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome Shengjiang Tan , Laetitia Kermasson , Angela Hoslin , Pekka Jaako , Alexandre Faille , et al. Blood, 2019, 134 (3), pp.277-290. ⟨10.1182/blood.2018893404⟩ Article dans une revue hal-02347758v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo Laurent Malivert , Isabelle Callebaut , Paola Rivera-Munoz , Alain Fischer , Jean-Paul Mornon , et al. Molecular and Cellular Biology, 2009, 29 (5), pp.1116-1122. ⟨10.1128/MCB.01521-08⟩ Article dans une revue hal-00361521v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Delineation of the Xrcc4-interacting region in the globular head domain of Cernunnos/XLF Laurent Malivert , Virginie Ropars , Marcela Nunez , Pascal Drevet , Simona Miron , et al. Journal of Biological Chemistry, 2010, 285 (34), pp.26475-26483. ⟨10.1074/jbc.M110.138156⟩ Article dans une revue hal-00493716v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome Maname Benyelles , Marie-Françoise O’donohue , Laëtitia Kermasson , Elodie Lainey , Raphael Borie , et al. Human Molecular Genetics, 2020, 29 (6), pp.907-922. ⟨10.1093/hmg/ddaa011⟩ Article dans une revue hal-04516980v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells Anna Sole , Sandrine Grossetête , Maxime Heintzé , Loelia Babin , Sakina Zaïdi , et al. Cancer Research, 2021, 81 (19), pp.4994-5006. ⟨10.1158/0008-5472.CAN-20-3837⟩ Article dans une revue mnhn-03873854v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Regulator of telomere length 1 ( RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes Raphael Borie , Diane Bouvry , Vincent Cottin , Clement Gauvain , Aurélie Cazes , et al. European Respiratory Journal, 2019, 53 (2), pp.1800508. ⟨10.1183/13993003.00508-2018⟩ Article dans une revue hal-02347765v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A new Rubisco-like protein coexists with a photosynthetic Rubisco in the planktonic cyanobacteria Microcystis Isabelle Callebaut , Laurent Malivert , Alain Fischer , Jean-Paul Mornon , Patrick Revy , et al. Journal of biology and chemistry, 2006, 281, pp.13857-13860. ⟨10.1074/jbc.C500473200⟩ Article dans une revue hal-00113491v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects Laëtitia Kermasson , Dmitri Churikov , Aya Awad , Riham Smoom , Elodie Lainey , et al. Blood, 2022, ⟨10.1182/blood.2021010791⟩ Article dans une revue hal-03622423v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair Chloé Lescale , Vincent Abramowski , Marie Bedora-Faure , Valentine Murigneux , Gabriella Vera , et al. Nature Communications, 2016, 7, pp.Article number:10529. ⟨10.1038/ncomms10529⟩ Article dans une revue pasteur-01295756v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		T cell adhesion lowers the threshold for antigen detection Clotilde Randriamampita , Geneviève Boulla , Patrick Revy , Fabrice Lemaitre , Alain Trautmann European Journal of Immunology, 2003, 33 (5), pp.1215-1223. ⟨10.1002/eji.200323844⟩ Article dans une revue hal-03007921v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis Raphael Borie , L. Tabèze , Gabriel Thabut , Hilario Nunes , Vincent Cottin , et al. European Respiratory Journal, 2016, 48 (6), pp.1721--1731. ⟨10.1183/13993003.02115-2015⟩ Article dans une revue hal-01467555v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Somatic genetic rescue of a germline ribosome assembly defect Shengjiang Tan , Laëtitia Kermasson , Christine Hilcenko , Vasileios Kargas , David Traynor , et al. Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩ Article dans une revue hal-03330053v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A disease-causing single amino-acid deletion in the coiled-coil domain of RAD50 impairs MRE11 complex functions in yeast and humans Marie Chansel-da Cruz , Marcel Hohl , Ilaria Ceppi , Laëtitia Kermasson , Laurence Maggiorella , et al. Cell Reports, In press Article dans une revue hal-03027155v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains Guilhem Faure , Patrick Revy , Michael Schertzer , Arturo Londono-Vallejo , Isabelle Callebaut Proteins - Structure, Function and Bioinformatics, 2014, 82, pp.897-903 Article dans une revue hal-01002499v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis Pierre-Antoine Juge , Raphaël Borie , Caroline Kannengiesser , Steven Gazal , Patrick Revy , et al. European Respiratory Journal, 2017, 49 (5), ⟨10.1183/13993003.02314-2016⟩ Article dans une revue hal-01595463v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Expanding the SRI domain family: A common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

Human RTEL1 deficiency causes Hoyeraal- Hreidarsson syndrome with short telomeres and genome instability

Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo

Delineation of the Xrcc4-interacting region in the globular head domain of Cernunnos/XLF

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome

Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells

Regulator of telomere length 1 ( RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

A new Rubisco-like protein coexists with a photosynthetic Rubisco in the planktonic cyanobacteria Microcystis

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

T cell adhesion lowers the threshold for antigen detection

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

Somatic genetic rescue of a germline ribosome assembly defect

A disease-causing single amino-acid deletion in the coiled-coil domain of RAD50 impairs MRE11 complex functions in yeast and humans

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis