V. Carmignac
French Institute of Health and Medical Research
15 Papers
13 Citations
V. Carmignac is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Biology & Hypopigmentation. The author has an hindex of 5, co-authored 15 publications. Previous affiliations of V. Carmignac include University of Burgundy.
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Papers
The epigenetic control of transposable elements and imprinted genes in newborns is affected by the mode of conception: ART versus spontaneous conception without underlying infertility.
Cécile Choux,Christine Binquet,V. Carmignac,Céline Bruno,C Chapusot,Julie Barberet,M Lamotte,Paul Sagot,Déborah Bourc'his,Patricia Fauque +9 more
TL;DR: Novel findings of ERVFRD (syncytin-2) expression correlating with birth weight and placenta weight suggest that more research on syncytins and pregnancy-associated diseases could lead to them being used as biomarkers or even as therapeutic targets.
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Pierre Vabres,Arthur Sorlin,S.S. Kholmanskikh,Bénédicte Demeer,Judith St-Onge,Judith St-Onge,Yannis Duffourd,Paul Kuentz,Jean Benoît Courcet,V. Carmignac,Philippine Garret,Didier Bessis,Odile Boute,Alain Bron,Guillaume Captier,Esther Carmi,Bernard Devauchelle,David Geneviève,Catherine Gondry-Jouet,Laurent Guibaud,Arnaud Lafon,Michèle Mathieu-Dramard,Julien Thevenon,William B. Dobyns,Geneviève Bernard,Geneviève Bernard,Satyamaanasa Polubothu,Francesca Faravelli,Veronica A. Kinsler,Christel Thauvin,Laurence Faivre,M. Elizabeth Ross,Jean Baptiste Rivière +32 more
TL;DR: It is shown that postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies.
Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.
Maud Jordan,V. Carmignac,Arthur Sorlin,Paul Kuentz,Juliette Albuisson,Luca Borradori,Emmanuelle Bourrat,Odile Boute,Nenad Bukvic,Anne-Claire Bursztejn,Christine Chiaverini,Bruno Delobel,Marine Fournet,Jehanne Martel,Alice Goldenberg,Smail Hadj-Rabia,Antoine Mahé,Annabel Maruani,J. Mazereeuw,Cyril Mignot,Fanny Morice-Picard,Marie-Laure Moutard,Florence Petit,Justine Pasteur,Alice Phan,Sandra Whalen,Marjolaine Willems,Christophe Philippe,Pierre Vabres +28 more
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier,Bernard Aral,Nadine Hanna,Sandy Lambert,Hyacintha d'Indy,C. Ragon,M. Payet,Gwenaëlle Collod-Béroud,V. Carmignac,Marie Ange Delrue,Cyril Goizet,Nicole Philip,Tiffany Busa,Yves Dulac,I. Missotte,Yves Sznajer,Annick Toutain,Christine Francannet,André Mégarbané,Sophie Julia,Thomas Edouard,Pierre Sarda,Jeanne Amiel,Stanislas Lyonnet,Valérie Cormier-Daire,Brigitte Gilbert,Aurélia Jacquette,Delphine Héron,Patrick Collignon,Didier Lacombe,Fanny Morice-Picard,P. S. Jouk,Veronica Cusin,Marjolaine Willems,E. Sarrazin,K. Amarof,Christine Coubes,Marie-Claude Addor,Hubert Journel,Estelle Colin,P. Khau van Kien,Clarisse Baumann,B. Leheup,Dominique Martin-Coignard,Martine Doco-Fenzy,Alice Goldenberg,Ghislaine Plessis,Julien Thevenon,Laurent Pasquier,Sylvie Odent,Pierre Vabres,F. Huet,Nathalie Marle,Anne-Laure Mosca-Boidron,Francine Mugneret,S. Gauthier,Christine Binquet,C. Thauvin-Robinet,Guillaume Jondeau,Catherine Boileau,Laurence Faivre +60 more
TL;DR: It was impossible to make a diagnosis in 80% of patients, suggesting either that there are more loci with genes yet to be discovered or that MH can also be a relatively non‐specific feature of patients with ID.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
V. Carmignac,Cyril Mignot,Emmanuelle Blanchard,Emmanuelle Blanchard,Paul Kuentz,Marie-Hélène Aubriot-Lorton,Victoria E. R. Parker,Arthur Sorlin,Sylvie Fraitag,Jean-Benoît Courcet,Yannis Duffourd,Diana Rodriguez,Rachel G. Knox,Satyamaanasa Polubothu,Satyamaanasa Polubothu,Anne Boland,Robert Olaso,Marc Delepine,Véronique Darmency,Melissa Riachi,Chloé Quélin,Paul Rollier,Louise Goujon,Sarah Grotto,Yline Capri,Marie-Line Jacquemont,Sylvie Odent,Daniel Amram,Martin Chevarin,Catherine Vincent-Delorme,B. Catteau,Laurent Guibaud,Alexis Arzimanoglou,Malika Keddar,Catherine Sarret,P. Callier,Didier Bessis,David Geneviève,Jean-François Deleuze,Christel Thauvin,Robert K. Semple,Robert K. Semple,Christophe Philippe,Jean-Baptiste Rivière,Veronica A. Kinsler,Veronica A. Kinsler,Laurence Faivre,Pierre Vabres +47 more
TL;DR: In this paper, the authors identified 14 patients with Blaschko-linear and one with flag-like pigmentation and postzygotic MTOR-related hypomelanosis of Ito.
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