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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
et al.
Journal articles
hal-00916763v1
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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia
Delphine Simon
,
Benoit Laloo
,
Malika Barillot
,
Thomas Barnetche
,
Camille Blanchard
et al.
Journal articles
istex
inserm-02437944v1
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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
Julie Lavie
,
Román Serrat
,
Nadège Bellance
,
Gilles Courtand
,
Jean-William Dupuy
et al.
Journal articles
hal-02353858v1
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Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of Fallot
Virginie Dubes
,
David Benoist
,
François Roubertie
,
Stephen Gilbert
,
Marion Constantin
et al.
Journal articles
hal-02369857v1
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The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
Doron M. Behar
,
Christine Harmant
,
Jeremy Manry
,
Mannis van Oven
,
Wolfgang Haak
et al.
Journal articles
pasteur-03682002v1
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Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation
Mohsen Hosseini
,
Léa Dousset
,
Walid Mahfouf
,
Martin Serrano-Sanchez
,
Isabelle Redonnet-Vernhet
et al.
Journal articles
hal-02421137v1
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Elaboration of a semi-automated algorithm for brain arteriovenous malformation segmentation: initial results
Fanny Laffargue
,
Sylvie Bourthoumieu
,
Brigitte Llanas
,
Véronique Baudouin
,
Annie Lahoche
et al.
Journal articles
hal-02436954v1
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Gaelle Thierry
,
Claire Bénéteau
,
Olivier Pichon
,
Elisabeth Flori
,
Bertrand Isidor
et al.
Journal articles
inserm-00706725v1
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A cannabinoid link between mitochondria and memory
Etienne Hebert-Chatelain
,
Tifany Desprez
,
Román Serrat
,
Luigi Bellocchio
,
Edgar Soria-Gómez
et al.
Journal articles
hal-02353802v1
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Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
Gilles Millat
,
Patrice Bouvagnet
,
Philippe Chevalier
,
Laurent Sebbag
,
Arnaud Dulac
et al.
Journal articles
istex
hal-01017144v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Aurore Curie
,
Tatjana Nazir
,
Amandine Brun
,
Yves Paulignan
,
Anne Reboul
et al.
Journal articles
hal-01020483v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Journal articles
hal-01502135v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont
,
Alexandre Reymond
,
Flore Zufferey
,
Louise Harewood
,
Robin G. Walters
et al.
Journal articles
inserm-00619240v1
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Molecular Basis for Expression of Common and Rare Fragile Sites
Laurence Taine
,
Philippe Rocca-Serra
,
Azza Abd El Moneim
,
Nathalie Verdier
,
Kamran Moradkhani
et al.
Journal articles
hal-02196288v1
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Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism
Julie Lavie
,
Harmony de Belvalet
,
Sessinou Sonon
,
Ana Madalina Ion
,
Elodie Dumon
et al.
Journal articles
hal-02353750v1
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New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger
,
Amale Ichkou
,
Soumaya Mougou-Zerelli
,
Martine Le Merrer
,
Géraldine Goudefroye
et al.
Journal articles
hal-01064583v1
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Mutations in SETD2 cause a novel overgrowth condition
Armelle Luscan
,
Ingrid Laurendeau
,
Valérie Malan
,
Christine Francannet
,
Sylvie Odent
et al.
Journal articles
hal-01064581v1
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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations
Grégoire Cullot
,
Julian Boutin
,
Jérôme Toutain
,
Florence Prat
,
Perrine Pennamen
et al.
Journal articles
hal-02395971v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy
Karine Nguyen
,
Stéphane Roche
,
Erwan Donal
,
Sylvie Odent
,
Jean-Christophe Eicher
et al.
Journal articles
hal-02140150v1
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot
,
Alice Masurel
,
Salima El Chehadeh
,
Anne-Laure Mosca-Boidron
,
Christel Thauvin-Robinet
et al.
Journal articles
hal-01400905v1
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Evidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers
Begoña Martínez-Cruz
,
Christine Harmant
,
Daniel E. Platt
,
Wolfgang Haak
,
Jeremy Manry
et al.
Journal articles
pasteur-03681978v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Journal articles
hal-01237103v1
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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.
Journal articles
istex
hal-01237099v1
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy
,
Émilie Landais
,
Sylvain Briault
,
Albert David
,
Olivier Tassy
et al.
Journal articles
hal-01707770v1
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jérôme Delplanque
,
David Devos
,
Vincent Huin
,
Alexandre Genet
,
Olivier Sand
et al.
Journal articles
inserm-03017555v1
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