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Enhanced cell viscosity: a new phenotype associated with lamin A/C alterations
Cécile Jebane
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Alice-Anaïs Varlet
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Marc Karnat
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Lucero Hernandez- Cedillo
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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
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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
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Alexander Hornung
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Imane Agouti
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Anne Charrier
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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
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Clothilde Esteve
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Charlene Chaix
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Christophe Béroud
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Nicolas Levy
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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
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Laurence Faivre
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Jeanne Amiel
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Mathilde Nizon
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Renaud Touraine
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et al.
Article dans une revue
hal-02064139v1
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve
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Ludmila Francescatto
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Perciliz Tan
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Aurélie Bourchany
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Cécile de Leusse
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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
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Frédéric Bedu
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Igor Ozerov
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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
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Benedicte Gaborit
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Camille Desgrouas
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Inès Abdesselam
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Monique Bernard
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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
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Affef Abidi
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Julie Sutera-Sardo
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et al.
Article dans une revue
istex
hal-01664288v1
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio
,
Gaetan Lesca
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Nathalie Villeneuve
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Caroline Lacoste
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Affef Abidi
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et al.
Article dans une revue
hal-01664313v1
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New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration
B. Allegrini
,
S. Jedele
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L. David Nguyen
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M. Mignotet
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R. Rapetti-Mauss
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et al.
Article dans une revue
hal-03821148v1
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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
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Maxime Sahun
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Scott Atwell
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Catherine Badens
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et al.
Article dans une revue
hal-03956053v1
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Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls
Camille Desgrouas
,
Alice-Anaïs Varlet
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Anne Dutour
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Damien Galant
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Françoise Merono
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et al.
Article dans une revue
hal-03162879v1
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A novel SUPT5H variant associated with a beta‐thalassaemia trait
Theo Charnay
,
Mathieu Cerino
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Katia Gonnet
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Nathalie Bonello-Palot
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Marie‐pierre Bréchard
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et al.
Article dans une revue
hal-03586917v1
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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre
,
Bernard Charroux
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Christine Martinez-Vinson
,
Bertrand Roquelaure
,
Egritas Odul
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et al.
Article dans une revue
hal-00843403v1
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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
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Ana Borges-Correia
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Jean-Christophe Roux
,
Imen Dorboz
,
et al.
Article dans une revue
hal-01668665v1
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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
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Annachiara de Sandre-Giovannoli
,
Rafaelle Bernard
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Sebastien Courrier
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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
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Chantal Missirian
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Nicolas Andre
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et al.
Article dans une revue
hal-00614846v1
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Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
Charles Herbaux
,
Nicolas Duployez
,
Catherine Badens
,
Nicolas Poret
,
Claude Gardin
,
et al.
Article dans une revue
inserm-02913994v1
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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
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Pierre Cacciagli
,
Nancy Choucair
,
Cornel Popovici
,
Chantal Missirian
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et al.
Article dans une revue
istex
hal-01668660v1
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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
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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
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Frédéric Bedu
,
Igor Ozerov
,
et al.
Article dans une revue
hal-01577332v1
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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.
Article dans une revue
hal-01741726v1
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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frederic Vely
,
Vincent Barlogis
,
Evelyne Marinier
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Marie-Edith Coste
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Beatrice Dubern
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et al.
Article dans une revue
hal-02000323v1
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Development and optimization of two processes for producing nanosized liposomes using supercritical CO2
Mathieu Martino
,
Adil Mouahid
,
Camille Desgrouas
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Catherine Badens
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M. Sergent
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et al.
EMSF 2021, May 2021, Bordeaux (online), France
Communication dans un congrès
hal-03598469v1
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Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including `Healthy Lipid' Emerin p.D149H in the ExAC Cohort
Tejas Dharmaraj
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Youchen Guan
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Julie Liu
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Catherine Badens
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Benedicte Gaborit
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et al.
Article dans une revue
hal-02461456v1
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In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation
F. Sauvestre
,
S. Moutton
,
Catherine Badens
,
B. Broussin
,
D. Carles
,
et al.
Article dans une revue
hal-01741732v1
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Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review
Morgane Caralli
,
Celine Roman
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Marie-Edith Coste
,
Bertrand Roquelaure
,
Christophe Buffat
,
et al.
Article dans une revue
hal-03660860v1
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