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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
Frontiers in Physiology, 2022, 12, ⟨10.3389/fphys.2021.775584⟩
Journal articles hal-03512181v1

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⟩
Journal articles hal-01876433v1
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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.
60th Annual Meeting of the American-Society-of-Hematology (ASH), Dec 2018, San Diego, United States. pp.4914, ⟨10.1182/blood-2018-99-113298⟩
Conference papers hal-02063336v1
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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⟩
Journal articles hal-02920493v1
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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.
Atherosclerosis, 2020, 293, pp.86 - 91. ⟨10.1016/j.atherosclerosis.2019.12.002⟩
Journal articles hal-02624173v1
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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.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.80. ⟨10.1186/1750-1172-8-80⟩
Journal articles inserm-00829466v1

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⟩
Journal articles hal-00531089v1
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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.
Neurobiology of Disease, 2015, 80, pp.80 - 92. ⟨10.1016/j.nbd.2015.04.017⟩
Journal articles hal-01664283v1

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
Journal articles hal-01252935v1

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⟩
Journal articles hal-01469076v1
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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.
American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
Journal articles hal-01668665v1

A novel SUPT5H variant associated with a beta‐thalassaemia trait

Theo Charnay , Mathieu Cerino , Katia Gonnet , Nathalie Bonello-Palot , Marie‐pierre Bréchard , et al.
British Journal of Haematology, In press, ⟨10.1111/bjh.17985⟩
Journal articles 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.
Human Molecular Genetics, 2005, 14 (11), pp.1503 - 1513. ⟨10.1093/hmg/ddi159⟩
Journal articles hal-01669073v1

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Alexandre Fabre , Bernard Charroux , Christine Martinez-Vinson , Bertrand Roquelaure , Egritas Odul , et al.
American Journal of Human Genetics, 2012, 90 (4), pp.689-92. ⟨10.1016/j.ajhg.2012.02.009⟩
Journal articles 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.
Cells, 2020, 9 (2), pp.310. ⟨10.3390/cells9020310⟩
Journal articles 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.
Scientific Reports, 2023, 13 (1), pp.745. ⟨10.1038/s41598-023-27718-w⟩
Journal articles hal-03956053v1
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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.
Cells, 2016, 5 (2), pp.21. ⟨10.3390/cells5020021⟩
Journal articles hal-01425516v1
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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.
Epilepsia, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩
Journal articles hal-01664313v1
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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.
American Journal of Medical Genetics Part A, 2015, 167 (10), pp.2314-2318. ⟨10.1002/ajmg.a.37152⟩
Journal articles istex hal-01664288v1

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
Conference papers hal-01613361v1
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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.
Frontiers in Physiology, 2022, 13, ⟨10.3389/fphys.2022.918620⟩
Journal articles hal-03821148v1

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⟩
Journal articles hal-01721495v1
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Severe neonatal seizures: From molecular diagnosis to precision therapy?

Mathieu Milh , Pierre Cacciagli , Cecile Mignon-Ravix , Catherine Badens , A. Lepine , et al.
Revue Neurologique, 2016, 172 (3), pp.171-173. ⟨10.1016/j.neurol.2016.02.005⟩
Journal articles hal-01668113v1
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Syndromic diarrhea/Tricho-hepato-enteric syndrome

Alexandre Fabre , Christine Martinez-Vinson , Olivier Goulet , Catherine Badens
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.5. ⟨10.1186/1750-1172-8-5⟩
Journal articles inserm-00782917v1
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HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia

Philippe Joly , Nathalie Bonello-Palot , Catherine Badens , Serge Pissard , Abdourahim Chamouine , et al.
Clinical Hemorheology and Microcirculation, 2021, 77 (3), pp.267-272. ⟨10.3233/CH-200951⟩
Journal articles hal-03662455v1
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Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Veronique Picard , Corinne Guitton , Isabelle Thuret , Christian Rose , Laurence Bendelac , et al.
Haematologica, 2019, 104 (8), pp.1554-1564. ⟨10.3324/haematol.2018.205328⟩
Journal articles hal-02929666v1
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A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence

Alice-Anaïs Varlet , Camille Desgrouas , Cécile Jebane , Nathalie Bonello-Palot , Patrice Bourgeois , et al.
Cells, 2022, 11 (1), pp.50. ⟨10.3390/cells11010050⟩
Journal articles hal-03586657v1

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

Caroline Lacoste , B. Leheup , I. Agouti , D. Mowat , F. Giuliano , et al.
Clinical Genetics, 2014, 86 (5), pp.502 - 503. ⟨10.1111/cge.12319⟩
Journal articles istex hal-01706687v1

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⟩
Journal articles hal-04205177v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel , et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1