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1دورية أكاديمية
المؤلفون: Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., Vikkula, Miikka
المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales
المصدر: Circulation, Vol. 136, no. 11, p. 1037-1048 (2017)
مصطلحات موضوعية: Arteriovenous fistula, Arteriovenous malformation, Capillary, Genetics, Linkage, Vascular disease, Vascular endothelial function, Venous
العلاقة: boreal:183933; http://hdl.handle.net/2078.1/183933Test; info:pmid/28687708; urn:ISSN:0009-7322; urn:EISSN:1524-4539
الإتاحة: https://doi.org/10.1161/CIRCULATIONAHA.116.026886Test
http://hdl.handle.net/2078.1/183933Test -
2
المؤلفون: Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
المساهمون: Genetics and Genomic Medicine, University College of London [London] ( UCL ), MRC Human Genetics Unit, University of Edinburgh-Western General Hospital, Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Great Ormond Street Hospital for Children [London] ( GOSH ), Service de dermatologie [Nantes], Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Ramon & Cajal University Hospital, Department of dermatology, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Centre de référence de dermatologie pédiatrique, CHU Nice, Universität Regensburg ( UR ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Department of Dermatology, Venerology and Allergology, Universitätsklinikum Würzburg, Department of Dermatology, Universitätsklinikum Freiburg, Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Wellcome Trust WT104076MA National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust University College London Livingstone Skin Research Centre, UCL Institute of Child Health, London Medical Research Council, Human Genetics Unit, Unite Kingdom Groupe Interregional de Recherche Clinique et d'Innovation (GIRCI) Est Programme Hospitalier de Recherche Clinique (PHRC) National, ANR-13-PDOC-0029,MOSAIC,Une approche génomique pour identifier des mutations postzygotiques responsables d'anomalies du développement évocatrices d'un mosaïcisme cutané ( 2013 ), University College of London [London] (UCL), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Great Ormond Street Hospital for Children [London] (GOSH), Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nice (CHU Nice), Universität Regensburg (UR), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), ANR-13-PDOC-0029,MOSAIC,Une approche génomique pour identifier des mutations postzygotiques responsables d'anomalies du développement évocatrices d'un mosaïcisme cutané(2013), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. 〈http://www.sciencedirect.com/science/article/pii/S0022202X16003328Test〉. 〈10.1016/j.jid.2015.11.027〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. ⟨10.1016/j.jid.2015.11.027⟩
The Journal of Investigative Dermatology
Thomas, A C, Zeng, Z, Rivière, J-B, O'Shaughnessy, R, Al-Olabi, L, St.-Onge, J, Atherton, D J, Aubert, H, Bagazgoitia, L, Barbarot, S, Bourrat, E, Chiaverini, C, Chong, W K, Duffourd, Y, Glover, M, Groesser, L, Hadj-Rabia, S, Hamm, H, Happle, R, Mushtaq, I, Lacour, J-P, Waelchli, R, Wobser, M, Vabres, P, Patton, E E & Kinsler, V A 2016, ' Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis ', Journal of Investigative Dermatology, vol. 136, no. 4, pp. 770-778 . https://doi.org/10.1016/j.jid.2015.11.027Testمصطلحات موضوعية: WT, wild type, DNA Mutational Analysis, Molecular Sequence Data, postzygotic mutations, Mutation, Missense, SWS, Sturge-Weber syndrome, Dermatology, cesioflammea, germline, Biochemistry, Skin Diseases, Animals, Genetically Modified, g-protein, DNA, deoxyribonucleic acid, Mongolian Spot, oculodermal melanocytosis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Genetics, Animals, Humans, ddc:610, Phosphorylation, choroidal melanoma, Molecular Biology, Alleles, Zebrafish, disease, Base Sequence, Neurocutaneous Syndromes, sturge-weber, Infant, Cell Biology, mongolian spot, PPV, phakomatosis pigmentovascularis, GTP-Binding Protein alpha Subunits, HEK293 Cells, Phenotype, Mutation, GTP-Binding Protein alpha Subunits, Gq-G11, Original Article, uveal melanoma, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1a7b2c6f371b65e70ff89ff8fafdcbe2Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-189689Test -
3دورية أكاديمية
المؤلفون: Gache, Yannick, Baldeschi, Christine, Del Rio, Marcela, Gagnoux-Palacios, Laurent, larcher, Fernando, Lacour, Jean-Philippe, Meneguzzi, Guerrino
المصدر: Human Gene Therapy ; volume 15, issue 10, page 921-933 ; ISSN 1043-0342 1557-7422
مصطلحات موضوعية: Genetics, Molecular Biology, Molecular Medicine
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4دورية أكاديمية
المؤلفون: Alkhalifah, Azzam, Chiaverini, Christine, Charlesworth, Alexandra, Has, Cristina, Lacour, Jean‐Philippe
المصدر: Pediatric Dermatology; May2018, Vol. 35 Issue 3, pe193-e195, 3p, 2 Color Photographs
مصطلحات موضوعية: EPIDERMOLYSIS bullosa, SCARS, HETEROGENEITY, SKIN permeability, GENETIC mutation, GENE expression, KERATINOCYTE differentiation, GENETICS, THERAPEUTICS
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5دورية أكاديمية
المؤلفون: Chiaverini, Christine1, Charlesworth, Alexandra V.1,2, Youssef, Monia1, Cuny, Jean-François3, Rabia, Smail H.4, Lacour, Jean-Philippe1,2,5, Meneguzzi, Guerrino2,5 meneguzz@unice.fr
المصدر: Journal of Investigative Dermatology. Oct2010, Vol. 130 Issue 10, p2508-2511. 4p.
مصطلحات موضوعية: *LETTERS to the editor, *EPIDERMOLYSIS bullosa, *GENETICS