المؤلفون: Lavillaureix, A., Rollier, P., Kim, A., Panasenkava, V., De Tayrac, M., Carré, W., Guyodo, H., Faoucher, M., Poirel, E., Akloul, L., Quelin, C., Whalen, S., Bos, J., Broekema, M., Van Hagen, J. M., Grand, K., Allen-Sharpley, M., Magness, E., Mclean, S., Kayserili, H., Altunoglu, U., En Qi Chong, A., Xue, S., Jeanne, M., Almontashiri, N., Habhab, W., Vanlerberghe, Clemence, Faivre, L., Viora Dupont, E., Philippe, C., Safraou, H., Laffargue, F., Mittendorf, L., Abou Jamra, R., Patil, S. J., Dalal, A., Sarma, A. S., Keren, B., Reversade, B., Dubourg, C., Odent, S., Dupé, V.

المساهمون: Université de Lille, CHU Lille

العلاقة: Genet Med; http://hdl.handle.net/20.500.12210/114219Test

الإتاحة: https://doi.org/20.500.12210/114219Test
https://hdl.handle.net/20.500.12210/114219Test

المؤلفون: Hiatt, S.M., Trajkova, S., Sebastiano, M.R., Partridge, E.C., Abidi, F.E., Anderson, A., Ansar, M., Antonarakis, S.E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J.L., Betti, M.J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M.E., Coleman, T.F., Crenshaw, M.M., Cuisset, L., Curry, C.J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D.A., Elloumi, H.Z., Ermondi, G., Faoucher, M., Farrow, E.G., Felker, S.A., Fisher, H., Hurst, ACE, Joset, P., Kelly, M.A., Kmoch, S., Leadem, B.R., Lyons, M.J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S.K., Medne, L., Meeks, NJL, Montgomery, S., Napier, M.P., Natowicz, M., Newberry, K.M., Niceta, M., Noskova, L., Nowak, C.B., Noyes, A.G., Osmond, M., Prijoles, E.J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C.R., Sellars, E.A., Scheuerle, A.E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B.R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L.A., van Bever, Y., van der Crabben, S.N., van Slegtenhorst, M.A., Waisfisz, Q., Washington, C., Rodan, L.H., Myers, R.M., Cooper, G.M.

المصدر: American journal of human genetics, vol. 110, no. 2, pp. 215-227

مصطلحات موضوعية: Humans, Male, Female, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Phenotype, Gene Expression Regulation, Face, Nervous System Malformations, Nuclear Proteins/genetics, Histone Demethylases/genetics, X-linked intellectual disability, ZMYM3, chromatin modifiers, neurodevelopmental disorder, transcriptional coregulators

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36586412; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test

المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.

مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test

المؤلفون: Lefèvre, C., Lavillaureix, A., Faoucher, M., Abeille, I., Maubert, M.A., Plotton, I., Roucher-Boulez, F.

المصدر: Annales d'Endocrinologie ; volume 83, issue 5, page 342-343 ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ando.2022.07.170Test
https://api.elsevier.com/content/article/PII:S0003426622002773?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426622002773?httpAccept=text/plainTest

المؤلفون: Monin, P., Reynaud, N., Hanna, N., Dupuis-Girod, S., Till, M., Arnaud, P., Labalme, A., Alix, E., Poizat-Amar, C., Faoucher, M., Ravella, L., Debost, B., Obadia, J. F., Zech, J. C., Boileau, C., Sanlaville, D., Edery, P., Putoux, A., Schluth-Bolard, C.

المساهمون: Risques, Ecosystèmes, Vulnérabilité, Environnement, Résilience (RECOVER), Aix Marseille Université (AMU)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), POLE HYDROECOLOGIE DES PLANS D'EAU AIX EN PROVENCE FRA, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Département d'Anesthésie Réanimation, Centre Hospitalier Louis Pradel, Service de génétique et centre de référence pour la maladie de Rendu-Osler, Hospices Civils de Lyon (HCL), Hôpital Debrousse, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant CHU - HCL (HFME)

المصدر: Cytogenetic and genome research ; https://hal.science/hal-02901752Test ; Cytogenetic and genome research, 2020, 160 (2), pp.72--79. ⟨10.1159/000506319⟩

مصطلحات موضوعية: Humans, Male, Young Adult, Mosaicism, Aorta/*abnormalities, Bicuspid aortic valve, Chromosomes, Human, Pair 10/genetics, Pair 13/genetics, Comparative Genomic Hybridization, In Situ Hybridization, Fluorescence, Interstitial telomere, Marfan Syndrome/*etiology, Translocation, Genetic, Trisomy 13, Trisomy 13 Syndrome/*diagnosis/genetics, [SDV]Life Sciences [q-bio]

العلاقة: hal-02901752; https://hal.science/hal-02901752Test

الإتاحة: https://doi.org/10.1159/000506319Test
https://hal.science/hal-02901752Test

المؤلفون: Barish, S, Barakat, Stefan, Michel, BC, Mashtalir, N, Phillips, JB, Valencia, AM, Ugur, B, Wegner, J, Scott, TM, Bostwick, B, Murdock, DR, Dai, H, Perenthaler, Elena, Nikoncuk, Anita, Slegtenhorst, Marjon, Brooks, Alice, Keren, B, Nava, C, Mignot, C, Douglas, J, Rodan, L, Nowak, C, Ellard, S, Stals, K, Lynch, SA, Faoucher, M, Lesca, G, Edery, P, Engleman, KL, Zhou, D, Thiffault, I, Herriges, J, Gass, J, Louie, RJ, Stolerman, E, Washington, C, Vetrini, F, Otsubo, A, Pratt, V M, Conboy, E, Treat, K, Shannon, N, Camacho, J, Wakeling, E, Yuan, B, Chen, CA, Rosenfeld, JA, Westerfield, M, Wangler, M, Yamamoto, S

المصدر: Barish , S , Barakat , S , Michel , BC , Mashtalir , N , Phillips , JB , Valencia , AM , Ugur , B , Wegner , J , Scott , TM , Bostwick , B , Murdock , DR , Dai , H , Perenthaler , E , Nikoncuk , A , Slegtenhorst , M , Brooks , A , Keren , B , Nava , C , Mignot , C , Douglas , J , Rodan , L , Nowak , C , Ellard , S , Stals , K , Lynch , SA ....

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.003Test
https://pure.eur.nl/en/publications/61200d89-23e1-4e8e-9b61-ae511e64d2f6Test
http://hdl.handle.net/1765/132480Test

المؤلفون: Faoucher, M., Putoux, A., Francannet, C., Poulat, A.L., Chatron, N., Aquaviva, C., Labalme, A., Schluth-Bolard, C., Till, M., Saban, C., Desportes, V., Sanlaville, D., Edery, P., Lesca, G.

المصدر: European Journal of Paediatric Neurology ; volume 21, page e63 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2017.04.928Test
https://api.elsevier.com/content/article/PII:S109037981731187X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109037981731187X?httpAccept=text/plainTest