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	Pour les 60 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

		Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Clothilde Esteve , Ludmila Francescatto , Perciliz Tan , Aurélie Bourchany , Cécile de Leusse , et al. American Journal of Human Genetics, 2018, 102 (3), pp.364 - 374. ⟨10.1016/j.ajhg.2018.01.009⟩ Article dans une revue hal-01721495v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases Chloé Di Meglio , Gaetan Lesca , Nathalie Villeneuve , Caroline Lacoste , Affef Abidi , et al. Epilepsia, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩ Article dans une revue hal-01664313v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dynamics of Red Blood Cells through submicronic splenic slits Emmanuèle Helfer , Priya Gambhire , Scott Atwell , Frédéric Bedu , Igor Ozerov , et al. 69th Annual Meeting of the APS Division of Fluid Dynamics, Nov 2016, Portland, United States Communication dans un congrès hal-01613361v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Damien Galant , Benedicte Gaborit , Camille Desgrouas , Inès Abdesselam , Monique Bernard , et al. Cells, 2016, 5 (2), pp.21. ⟨10.3390/cells5020021⟩ Article dans une revue hal-01425516v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations Mathieu Milh , Caroline Lacoste , Pierre Cacciagli , Affef Abidi , Julie Sutera-Sardo , et al. American Journal of Medical Genetics Part A, 2015, 167 (10), pp.2314-2318. ⟨10.1002/ajmg.a.37152⟩ Article dans une revue istex hal-01664288v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration B. Allegrini , S. Jedele , L. David Nguyen , M. Mignotet , R. Rapetti-Mauss , et al. Frontiers in Physiology, 2022, 13, ⟨10.3389/fphys.2022.918620⟩ Article dans une revue hal-03821148v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Enhanced cell viscosity: a new phenotype associated with lamin A/C alterations Cécile Jebane , Alice-Anaïs Varlet , Marc Karnat , Lucero Hernandez- Cedillo , Amélie Lecchi , et al. iScience, In press, 26 (10), pp.107714. ⟨10.1016/j.isci.2023.107714⟩ Article dans une revue hal-04205177v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dynamics of Individual Red Blood Cells Under Shear Flow: A Way to Discriminate Deformability Alterations Scott Atwell , Catherine Badens , Anne Charrier , Emmanuèle Helfer , Annie Viallat Frontiers in Physiology, 2022, 12, ⟨10.3389/fphys.2021.775584⟩ Article dans une revue hal-03512181v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine , et al. Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩ Article dans une revue hal-02064139v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2 Alice-Anaïs Varlet , Emmanuèle Helfer , Catherine Badens Cells, 2020, 9 (9), pp.1947. ⟨10.3390/cells9091947⟩ Article dans une revue hal-02920493v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Towards Mechanical Clinical Markers in Sickle Cell Disease: Dynamics of Red Blood Cell in Low Shear Flow Catherine Badens , Scott X. Atwell , Alexander Hornung , Imane Agouti , Anne Charrier , et al. 60th Annual Meeting of the American-Society-of-Hematology (ASH), Dec 2018, San Diego, United States. pp.4914, ⟨10.1182/blood-2018-99-113298⟩ Communication dans un congrès hal-02063336v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects Patrice Bourgeois , Clothilde Esteve , Charlene Chaix , Christophe Béroud , Nicolas Levy , et al. Human Mutation, 2018, 39 (6), pp.774-789. ⟨10.1002/humu.23418⟩ Article dans une revue hal-01876433v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Mathieu Milh , Nadia Boutry-Kryza , Julie Sutera-Sardo , Cyril Mignot , Stéphane Auvin , et al. Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.80. ⟨10.1186/1750-1172-8-80⟩ Article dans une revue inserm-00829466v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome Nathalie Bonello-Palot , Marc Laine , Thomas Cuisset , Thibault Ronchard , Camille Desgrouas , et al. Atherosclerosis, 2020, 293, pp.86 - 91. ⟨10.1016/j.atherosclerosis.2019.12.002⟩ Article dans une revue hal-02624173v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels Affef Abidi , Jérôme Devaux , Florence Molinari , Gisèle Alcaraz , François-Xavier Michon , et al. Neurobiology of Disease, 2015, 80, pp.80 - 92. ⟨10.1016/j.nbd.2015.04.017⟩ Article dans une revue hal-01664283v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous ß-globin gene mutation and triplicated α-globin genes Nathalie Bonello-Palot , Audrey Benoit , Imane Agouti , Ilyes Hamouda , Valentine Brousse , et al. European Journal of Haematology, 2023, ⟨10.1111/ejh.14070⟩ Article dans une revue hal-04254093v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Hereditary stomatocytosis: advances in knowledge of forms with dehydrated red blood cells Catherine Badens , Loïc Garçon , Raphaël Rapetti-Mauss , Caroline Lacoste , Hélène Guizouarn Hématologie, 2016, 22 (5), pp.319-324. ⟨10.1684/hma.2016.1173⟩ Article dans une revue hal-01469076v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations Cécile Jebane , Alice-Anaïs Varlet , Marc Karnat , Lucero Hernandez- Cedillo , Amélie Lecchi , et al. iScience, 2023, 26 (10), pp.107714. ⟨10.1016/j.isci.2023.107714⟩ Article dans une revue hal-04455983v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. Robert Aquaron , Nadem Soufir , Jean-Louis Bergé-Lefranc , Catherine Badens , Frederic Austerlitz , et al. Journal of Human Genetics, 2007, 52 (9), pp.771-80. ⟨10.1007/s10038-007-0181-y⟩ Article dans une revue hal-00531089v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Supercritical millifluidic process for siRNA encapsulation in nanoliposomes for potential Progeria treatment (ex-vivo assays) Mathieu Martino , Adil Mouahid , Michelle Sergent , Camille Desgrouas , Catherine Badens , et al. Journal of Drug Delivery Science and Technology, 2023, 87, ⟨10.1016/j.jddst.2023.104804⟩ Article dans une revue hal-04254108v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A mutation in the Gardos channel is associated with hereditary xerocytosis. Raphael Rapetti-Mauss , Caroline Lacoste , Veronique Picard , Corinne Guitton , Elise Lombard , et al. Blood, 2015, 126 (11), pp.1273-80 Article dans une revue hal-01252935v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome Alexandre Fabre , Christine Martinez-Vinson , Bertrand Roquelaure , Chantal Missirian , Nicolas Andre , et al. Human Mutation, 2011, 32 (3), pp.277. ⟨10.1002/humu.21420⟩ Article dans une revue hal-00614846v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes Cecile Mignon-Ravix , Pierre Cacciagli , Nancy Choucair , Cornel Popovici , Chantal Missirian , et al. American Journal of Medical Genetics Part A, 2014, 164 (8), pp.1991 - 1997. ⟨10.1002/ajmg.a.36602⟩ Article dans une revue istex hal-01668660v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard , et al. Journal of Genetics, 2016, 95 (1), pp.203-208 Article dans une revue hal-01469051v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits Priya Gambhire , Scott Atwell , Cécile Iss , Frédéric Bedu , Igor Ozerov , et al. Small, 2017, 13 (32), pp.1700967. ⟨10.1002/smll.201700967⟩ Article dans une revue hal-01577332v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Development and optimization of two processes for producing nanosized liposomes using supercritical CO2 Mathieu Martino , Adil Mouahid , Camille Desgrouas , Catherine Badens , M. Sergent , et al. EMSF 2021, May 2021, Bordeaux (online), France Communication dans un congrès hal-03598469v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature Alexandre Fabre , Patrice Bourgeois , Marie-Edith Coste , Celine Roman , Vincent Barlogis , et al. Intractable & Rare Diseases Research, 2017, 6 (3), pp.152-157. ⟨10.5582/irdr.2017.01040⟩ Article dans une revue hal-01741726v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome Frederic Vely , Vincent Barlogis , Evelyne Marinier , Marie-Edith Coste , Beatrice Dubern , et al. Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩ Article dans une revue hal-02000323v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Advances in understanding the pathogenesis of the red cell volume disorders Catherine Badens , Hélène Guizouarn British Journal of Haematology, 2016, 174 (5), pp.674-685. ⟨10.1111/bjh.14197⟩ Article dans une revue hal-01469078v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis Charles Herbaux , Nicolas Duployez , Catherine Badens , Nicolas Poret , Claude Gardin , et al. American Journal of Hematology, 2015, 90 (8), pp.737-738. ⟨10.1002/ajh.24073⟩ Article dans une revue inserm-02913994v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Dynamics of Red Blood Cells through submicronic splenic slits

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

Enhanced cell viscosity: a new phenotype associated with lamin A/C alterations

Dynamics of Individual Red Blood Cells Under Shear Flow: A Way to Discriminate Deformability Alterations

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2

Towards Mechanical Clinical Markers in Sickle Cell Disease: Dynamics of Red Blood Cell in Low Shear Flow

Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous ß-globin gene mutation and triplicated α-globin genes

Hereditary stomatocytosis: advances in knowledge of forms with dehydrated red blood cells

Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Supercritical millifluidic process for siRNA encapsulation in nanoliposomes for potential Progeria treatment (ex-vivo assays)

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome

Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits

Development and optimization of two processes for producing nanosized liposomes using supercritical CO2

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Advances in understanding the pathogenesis of the red cell volume disorders

Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis