Search - Nantes Université Access content directly

Filter your results

24 Results
authFullName_s : Matilde Karakachoff
Image document

Bridging Refract-Lyma and CHUN Clinical Data Warehouse: from a research cohort to a regional electronic medical record system and back

Aimeric Dabin , Thomas Goronflot , Benoît Tessoulin , David Chiron , Anne Monlien , et al.
Journées ouvertes biologie, informatique et mathématiques (JOBIM) 2019, Jul 2019, Nantes, France
Conference poster inserm-02163132v1

The genetic history of France

Aude Saint-Pierre , Joanna Giemza , Isabel Alves , Matilde Karakachoff , Marinna Gaudin , et al.
European Journal of Human Genetics, 2020, 28 (7), pp.853-865. ⟨10.1038/s41431-020-0584-1⟩
Journal articles hal-02480238v1

Evaluation of the Post-COVID-19 Functional Status (PCFS) Scale in a cohort of patients recovering from hypoxemic SARS-CoV-2 pneumonia.

Naïla Benkalfate , Emmanuel Eschapasse , Thomas Georges , Camille Leblanc , Stephanie Dirou , et al.
BMJ open respiratory research, 2022, 9 (1), ⟨10.1136/bmjresp-2021-001136⟩
Journal articles hal-03618379v1

Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al.
International Biometric Conference, Jul 2014, Florence, Italy.
Conference papers hal-01037977v1
Image document

Location of intracranial aneurysms is the main factor associated with rupture in the ICAN population

Olivia Rousseau , Matilde Karakachoff , Alban Gaignard , Lise Bellanger , Philippe Bijlenga , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (2), jnnp-2020-324371. ⟨10.1136/jnnp-2020-324371⟩
Journal articles hal-03033899v1
Image document

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Jean-Baptiste Gourraud , Florence Kyndt , Swanny Fouchard , Eric Rendu , Philippe Jaafar , et al.
Heart, 2012, 98 (17), pp.1305 - 1310. ⟨10.1136/heartjnl-2012-301872⟩
Journal articles istex inserm-01667205v1
Image document

Peripheral blood immune cell profiling of acute corneal transplant rejection

Jesper Hjortdal , Matthew D Griffin , Marion Cadoux , W John Armitage , Max Bylesjo , et al.
American Journal of Transplantation, 2022, 22 (10), pp.2337 - 2347. ⟨10.1111/ajt.17119⟩
Journal articles hal-03815377v1

0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death

Vincent Probst , Solena Le Scouarnec , Florence Kyndt , Jean-Jacques Schott , Jean-Baptiste Gourraud , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170, ⟨10.1016/S1878-6480(15)30107-5⟩
Conference papers hal-01150486v1
Image document

The Caspase-1/IL-18 Axis of the Inflammasome in Tumor Cells: A Modulator of the Th1/Tc1 Response of Tumor-Infiltrating T Lymphocytes in Colorectal Cancer

Linda Bilonda Mutala , Cécile Deleine , Matilde Karakachoff , Delphine Dansette , Kathleen Ducoin , et al.
Cancers, 2021, 13 (2), pp.189. ⟨10.3390/cancers13020189⟩
Journal articles inserm-03287920v1

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec , Matilde Karakachoff , Jean-Baptiste Gourraud , Pierre Lindenbaum , Stéphanie Bonnaud , et al.
Human Molecular Genetics, 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩
Journal articles hal-01201946v1

Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis

Sandrine Morel , Isabel Hostettler , Georg Spinner , Romain Bourcier , Joanna Pera , et al.
Journal of Personalized Medicine, 2022, 12 (9), pp.1410. ⟨10.3390/jpm12091410⟩
Journal articles hal-04060055v1

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

Nadjet Belbachir , Vincent Portero , Zeina Al Sayed , Jean-Baptiste Gourraud , Florian Dilasser , et al.
European Heart Journal, 2019, ⟨10.1093/eurheartj/ehz308⟩
Journal articles inserm-02158572v1

A Statistical Association Test for the Identification of Clustered Disease Risk Variants

Elodie Persyn , Matilde Karakachoff , Floriane Simonet , Jean-Jacques Schott , Richard Redon , et al.
. European Mathematical Genetics Meeting (EMGM), Apr 2015, Brest, France. pp.43-44
Conference papers hal-01222285v1
Image document

Prediction of Unruptured Intracranial Aneurysm Evolution: The UCAN Project

Vincent L'Allinec , Stéphanie Chatel , Matilde Karakachoff , Emmanuelle Bourcereau , Zeineb Es-Salah-Lamoureux , et al.
Neurosurgery, 2020
Journal articles hal-02889889v1
Image document

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Romain Bourcier , Solena Le Scouarnec , Stephanie Bonnaud , Matilde Karakachoff , Emmanuelle Bourcereau , et al.
American Journal of Human Genetics, 2018, 102 (1), pp.133 - 141. ⟨10.1016/j.ajhg.2017.12.006⟩
Journal articles hal-01808225v1
Image document

Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis

Anne-Sophie Boureau , Matilde Karakachoff , Solena Le Scouarnec , Romain Capoulade , Caroline Cueff , et al.
International Journal of Cardiology, 2022, 359, pp.91-98. ⟨10.1016/j.ijcard.2022.04.022⟩
Journal articles hal-03659581v1

Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis

Sébastien Thériault , Christian Dina , David Messika-Zeitoun , Solena Le Scouarnec , Romain Capoulade , et al.
Circulation: Genomic and Precision Medicine, 2019, 12 (10), pp.431-441. ⟨10.1161/CIRCGEN.119.002617⟩
Journal articles hal-02355156v1
Image document

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc , Rafik Tadros , Charlotte Glinge , David Chiang , Mariam Jouni , et al.
Nature Genetics, 2022, 54 (3), pp.232-239. ⟨10.1038/s41588-021-01007-6⟩
Journal articles hal-03589076v1
Image document

Genetic determinants of intracranial aneurysm (IA) in autosomal dominant polycystic kidney disease (PKD)

Claire Leman , Raphaël Gaisne , Axelle Durand , Matilde Karakachoff , Romain Bourcier , et al.
JOBIM, Jul 2019, Nantes, France
Conference poster inserm-02161072v1

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

Isabel Alves , Joanna Giemza , Michael Blum , Carolina Bernhardsson , Stéphanie Chatel , et al.
Special issue hal-04045175v1

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

Thierry Le Tourneau , Solena Le Scouarnec , Caroline Cueff , Daniel Bernstein , Jan J. J. Aalberts , et al.
European Heart Journal, 2018, Equipe I, 39 (15), pp.1269--1277. ⟨10.1093/eurheartj/ehx505⟩
Journal articles hal-01833318v1
Image document

An association test to detect clustered disease-risk rare variants

Elodie Persyn , Matilde Karakachoff , Solena Le Scouarnec , Camille Le Clézio , Dominique Campion , et al.
PLoS ONE, 2017, 12 (7), pp.e0179364. ⟨10.1371/journal.pone.0179364⟩
Journal articles hal-01801793v1
Image document

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management.

Adeline Goudal , Matilde Karakachoff , Pierre Lindenbaum , Estelle Baron , Stéphanie Bonnaud , et al.
Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩
Journal articles hal-03722211v1
Image document

Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al.
International Biometric Conference, Jul 2014, Florence, Italy
Conference poster hal-01160576v1