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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.
Article dans une revue
hal-01721495v1
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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
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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.
Article dans une revue
hal-01425516v1
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Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations
Mathieu Milh
,
Caroline Lacoste
,
Pierre Cacciagli
,
Affef Abidi
,
Julie Sutera-Sardo
,
et al.
Article dans une revue
istex
hal-01664288v1
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New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration
B. Allegrini
,
S. Jedele
,
L. David Nguyen
,
M. Mignotet
,
R. Rapetti-Mauss
,
et al.
Article dans une revue
hal-03821148v1
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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.
Article dans une revue
hal-01664313v1
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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.
Article dans une revue
inserm-00829466v1
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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.
Article dans une revue
hal-01664283v1
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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.
Article dans une revue
hal-04254093v1
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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.
Article dans une revue
hal-04254108v1
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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.
Article dans une revue
hal-02624173v1
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Hereditary stomatocytosis: advances in knowledge of forms with dehydrated red blood cells
Catherine Badens
,
Loïc Garçon
,
Raphaël Rapetti-Mauss
,
Caroline Lacoste
,
Hélène Guizouarn
Article dans une revue
hal-01469076v1
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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.
Article dans une revue
hal-00531089v1
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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.
Article dans une revue
hal-04455983v1
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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
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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.
Article dans une revue
hal-04205177v1
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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
Article dans une revue
hal-03512181v1
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Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2
Alice-Anaïs Varlet
,
Emmanuèle Helfer
,
Catherine Badens
Article dans une revue
hal-02920493v1
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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.
Communication dans un congrès
hal-02063336v1
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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.
Article dans une revue
hal-01876433v1
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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.
Article dans une revue
hal-02064139v1
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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre
,
Bernard Charroux
,
Christine Martinez-Vinson
,
Bertrand Roquelaure
,
Egritas Odul
,
et al.
Article dans une revue
hal-00843403v1
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Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls
Camille Desgrouas
,
Alice-Anaïs Varlet
,
Anne Dutour
,
Damien Galant
,
Françoise Merono
,
et al.
Article dans une revue
hal-03162879v1
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Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study
Maxime Darrin
,
Ashwin Samudre
,
Maxime Sahun
,
Scott Atwell
,
Catherine Badens
,
et al.
Article dans une revue
hal-03956053v1
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
Pierre Cacciagli
,
Julie Sutera-Sardo
,
Ana Borges-Correia
,
Jean-Christophe Roux
,
Imen Dorboz
,
et al.
Article dans une revue
hal-01668665v1
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A novel SUPT5H variant associated with a beta‐thalassaemia trait
Theo Charnay
,
Mathieu Cerino
,
Katia Gonnet
,
Nathalie Bonello-Palot
,
Marie‐pierre Bréchard
,
et al.
Article dans une revue
hal-03586917v1
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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Claire L. Navarro
,
Juan Cadiñanos
,
Annachiara de Sandre-Giovannoli
,
Rafaelle Bernard
,
Sebastien Courrier
,
et al.
Article dans une revue
hal-01669073v1
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Advances in understanding the pathogenesis of the red cell volume disorders
Catherine Badens
,
Hélène Guizouarn
Article dans une revue
hal-01469078v1
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Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome
Alexandre Fabre
,
Christine Martinez-Vinson
,
Bertrand Roquelaure
,
Chantal Missirian
,
Nicolas Andre
,
et al.
Article dans une revue
hal-00614846v1
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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.
Article dans une revue
istex
hal-01668660v1
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