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
Choux, C, Binquet, C, Carmignac, V, Bruno, C, Chapusot, C, Barberet, J, Lamotte, M, Sagot, P, Bourc'his, D, Fauque, P
Published in Human reproduction (Oxford) (01.02.2018)
Published in Human reproduction (Oxford) (01.02.2018)
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Journal Article
OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway
Bourgon, N., Carmignac, V., Sorlin, A., Duffour, Y., Philippe, C., Thauvin, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P.
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
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Journal Article
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations
Theiler, M., Weibel, L., Christen‐Zaech, S., Carmignac, V., Sorlin, A., Neuhaus, K., Chevarin, M., Thauvin‐Robinet, C., Philippe, C., Faivre, L., Vabres, P., Kuentz, P.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
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Journal Article
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
Bourgon, N., Carmignac, V., Sorlin, A., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P., Tisserand, Emilie, Chevarin, Martin, Delanne, Julian, Jouan, Thibaud, Pöe, Charlotte, Abel, Carine, Allory, Patrick, Amram, Daniel, Attie‐Bitach, Tania, Aziza, Jacqueline, Benevent, Jean‐Baptiste, Bidat, Laurent, Bessières, Bettina, Boussion, Françoise, Cabaret‐Dufour, Anne‐Sophie, Chanoz‐Poulard, Geneviève, Chassaing, Nicolas, Ciorna‐Monferrato, Viorica, Cordier, Anne‐Gaëlle, Cordier, Marie‐Pierre, Cuillier, Fabrice, Doray, Berenice, Encha‐Razavi, Ferechte, Eszto, Marie‐Laure, Bianco, Catherine Fallet, Fernandez, Carla, Ferry, Mathilde, Fichez, Axel, Vequeau, Valérie Goua, Grevent, David, Guichet, Agnès, Laurent, Nicole, Le Gac, Marie‐Pascale, Lefebvre, Mathilde, Letard, Pascaline, Loget, Philippe, Loisel, Didier, Martinovich, Jelena, Masutti, Jean‐Paul, Millischer, Anne‐Elodie, Musizzano, Yuri, Nord, Jean‐François, Perez, Marie‐Josée, Prieur, Fabienne, Proisy, Maia, Quelin, Chloé, Roth, Philippe, Rousseau, Thierry, Salomon, Laurent, Sonigo, Pascale, Spaggiari, Emmanuel, Stempfle, Noëlle, Stirnemann, Julien, Tanteau, Julia, Triau, Stéphane, Vasiljevic, Alexandre, Ville, Yves, Zidane‐Marinnes, Merzouka, Kaltenbach, Sophie, Rivière, Jean‐Baptiste
Published in Ultrasound in obstetrics & gynecology (01.04.2022)
Published in Ultrasound in obstetrics & gynecology (01.04.2022)
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Journal Article
Expanding the clinical spectrum of mosaic BRAF skin phenotypes
Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
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Journal Article
616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome
Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J., carmignac, v, Bessis, D., Bernard, G., Dobyns, W.B., Faivre, L., Ross, M., Rivière, J.
Published in Journal of investigative dermatology (01.10.2017)
Published in Journal of investigative dermatology (01.10.2017)
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Journal Article
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Journal Article
Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia
Carmignac, V., Dupont, J.‐M., Fierro, R. C., Barberet, J., Bruno, C., Lieury, N., Dulioust, E., Auger, J., Fauque, P.
Published in Andrology (Oxford) (01.03.2017)
Published in Andrology (Oxford) (01.03.2017)
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Journal Article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Journal Article
EM.O.1 E3 domain of laminin α1 chain that binds to dystroglycan is not essential for survival and muscle regeneration in laminin α1 chain mediated correction of laminin α2 chain deficiency
Gawlik, K.I, Carmignac, V, Åkerlund, M, Elamaa, H, Durbeej, M
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion
Carmignac, V, Sharma, S, Arbogast, S, Fischer, D, Serreri, C, Serria, M, Stoltenburg, G, Maurage, C.A, Herrmann, H, Cuisset, J.M, Bär, H, Ferreiro, A
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
315 Cerebriform sebaceous nevus is caused by the specific postzygotic FGRF2 p.(Cys382Arg) variation
Kuentz, P., Theiler, M., Carmignac, V., Sorlin, A., Vabres, P.
Published in Journal of investigative dermatology (01.09.2019)
Published in Journal of investigative dermatology (01.09.2019)
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Journal Article
C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?
Vincitorio, C, Carmignac, V, Beuvin, M, Estournet, B, Quijano-Roy, S, Barois, A, Boyer, F, Chaix, Y, Eymard, B, Goemans, N, Iannaccone, S, Lazaro, L, Menard, D, Straub, V, Richard, P, Viollet, L, Bertini, E, Ferreiro, A
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Journal Article
LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations
Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P., cohort, M.
Published in Journal of investigative dermatology (01.09.2018)
Published in Journal of investigative dermatology (01.09.2018)
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Journal Article
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Web Resource
782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach
Sorlin, A., Tisserant, Thevenon, J., Carmignac, V., Duffourd, Y., Kuentz, P., Rivière, J., Thauvin-Robinet, C., Faivre, L., Callier, P., Vabres, P.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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Journal Article
783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing
Carmignac, V., Kuentz, P., Sorlin, A., Chevarin, M., Jouan, T., Duffourd, Y., Rivière, J., Poë, C., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Philippe, C., Vabres, P.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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Journal Article
794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome
Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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