يعرض 1 - 10 نتائج من 483 نتيجة بحث عن '"Claustres, M"', وقت الاستعلام: 1.88s تنقيح النتائج
  1. 1
    دورية أكاديمية
    The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

    المؤلفون: Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M. L., Thoreau, V., Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. L., Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, Adrien, Malinge, M. C., Dufernez, F., Lemonnier, L., Koenig, M., Fergelot, P., Claustres, M., Taulan-Cadars, M., Kitzis, A., Reboul, M. P., Becq, F., Fanen, P., Mekki, C., Audrezet, M. P., Girodon, E., Raynal, C.

    المساهمون: Université de Lille, CHU Lille, Institut Pasteur de Lille, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille

    وصف الملف: application/octet-stream

    العلاقة: Journal of Cystic Fibrosis; J Cyst Fibros; http://hdl.handle.net/20.500.12210/88409Test

    الإتاحة: https://doi.org/20.500.12210/88409Test
    https://hdl.handle.net/20.500.12210/88409Test

    View record in BASE

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

    المؤلفون: Bergougnoux, Anne, Deletang, K., Pommier, A., Varilh, J., Houriez, F., Altieri, J. P., Koenig, M., Ferec, Claude, Claustres, M., Lalau, Guy, Bienvenu, Thierry, Audrezet, M. P., Pagin, Adrien, Girodon, E., Raynal, C., Taulan-Cadars, M.

    المساهمون: CHU Lille, Institut Pasteur de Lille, Université de Lille, IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

    مصطلحات موضوعية: Splicing alteration, CFTR gene, Deep intronic variants, Large phenotypic spectrum, Pseudo-exon inclusion

    وصف الملف: application/octet-stream

    العلاقة: Journal of Cystic Fibrosis; J. Cyst. Fibros.; http://hdl.handle.net/20.500.12210/59719Test

    الإتاحة: https://doi.org/20.500.12210/59719Test
    https://hdl.handle.net/20.500.12210/59719Test

    View record in BASE

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

    المؤلفون: Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, M., Fergelot, P., Claustres, M., Taulan-Cadars, M., Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, C.

    المساهمون: Association Vaincre la Mucoviscidose

    المصدر: Journal of Cystic Fibrosis ; volume 22, issue 3, page 515-524 ; ISSN 1569-1993

    مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

    الإتاحة: https://doi.org/10.1016/j.jcf.2022.12.003Test
    https://api.elsevier.com/content/article/PII:S1569199322014230?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1569199322014230?httpAccept=text/plainTest

    View record in BASE

    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

    المؤلفون: Steiner, B, Rosendahl, J, Witt, H, Teich, N, Keim, V, Schulz, HU, Pfutzer, R, Luhr, M, Gress, TM, Nickel, R, Landt, O, Koudova, M, Macek, M, Farre, A, Casals, T, Desax, MC, Gallati, S, Gomez-Lira, M, Audrezet, MP, Ferec, C, des Georges, M, Claustres, M, Truninger, K

    المصدر: Human mutation. 32(8):912-920

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123077487Test

    View record in SwePub النص الكامل

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

    المؤلفون: Azad, AK, Rauh, R, Vermeulen, F, Jaspers, M, Korbmacher, J, Boissier, B, Bassinet, L, Fichou, Y, des Georges, M, Stanke, F, De Boeck, K, Dupont, L, Balascakova, M, Hjelte, L, Lebecque, P, Radojkovic, D, Castellani, C, Schwartz, M, Stuhrmann, M, Schwarz, M, Skalicka, V, de Monestrol, I, Girodon, E, Ferec, C, Claustres, M, Tummler, B, Cassiman, JJ, Korbmacher, C, Cuppens, H

    المصدر: Human mutation. 30(7):1093-1103

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:119047315Test

    View record in SwePub النص الكامل

    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    290 Strategies to improve in vivo survival of Mesenchymal Stromal Cells after injection in immunodeficient mice

    المؤلفون: Bonnet des Claustres, M., Titeux, M., Peltzer, J., Gaucher, S., Hovnanian, A.

    المصدر: Journal of Investigative Dermatology ; volume 142, issue 12, page S230 ; ISSN 0022-202X

    مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

    الإتاحة: https://doi.org/10.1016/j.jid.2022.09.302Test
    https://api.elsevier.com/content/article/PII:S0022202X22022369?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022202X22022369?httpAccept=text/plainTest

    View record in BASE

    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    102 Citrullinated histone H3, a marker for neutrophil extracellular traps, is associated with poorer prognosis in recessive dystrophic epidermolysis bullosa patients with cutaneous squamous cell carcinoma

    المؤلفون: Ragot, H., Gaucher, S., Titeux, M., Bonnet des Claustres, M., Basset, J., Battistella, M., Bourrat, E., Hovnanian, A.

    المصدر: Journal of Investigative Dermatology ; volume 142, issue 8, page S17 ; ISSN 0022-202X

    مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

    الإتاحة: https://doi.org/10.1016/j.jid.2022.05.037Test
    https://api.elsevier.com/content/article/PII:S0022202X2200478X?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022202X2200478X?httpAccept=text/plainTest

    View record in BASE

    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

    المؤلفون: Passarelli C., Selvatici R., Carrieri A., Di Raimo F. R., Falzarano M. S., Fortunato F., Rossi R., Straub V., Bushby K., Reza M., Zharaieva I., D'Amico A., Bertini E., Merlini L., Sabatelli P., Borgiani P., Novelli G., Messina S., Pane M., Mercuri E., Claustres M., Tuffery-Giraud S., Aartsma-Rus A., Spitali P., T'Hoen P. A. C., Lochmuller H., Strandberg K., Al-Khalili C., Kotelnikova E., Lebowitz M., Schwartz E., Muntoni F., Scapoli C., Ferlini A.

    المساهمون: Passarelli, C., Selvatici, R., Carrieri, A., Di Raimo, F. R., Falzarano, M. S., Fortunato, F., Rossi, R., Straub, V., Bushby, K., Reza, M., Zharaieva, I., D'Amico, A., Bertini, E., Merlini, L., Sabatelli, P., Borgiani, P., Novelli, G., Messina, S., Pane, M., Mercuri, E., Claustres, M., Tuffery-Giraud, S., Aartsma-Rus, A., Spitali, P., T'Hoen, P. A. C., Lochmuller, H., Strandberg, K., Al-Khalili, C., Kotelnikova, E., Lebowitz, M., Schwartz, E., Muntoni, F., Scapoli, C., Ferlini, A.

    مصطلحات موضوعية: biomarker, corticosteroid (betamethasone), Duchenne, receptor, TNFR

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32719714; info:eu-repo/semantics/altIdentifier/wos/WOS:000553972100001; volume:11; firstpage:605-1; lastpage:605-15; numberofpages:15; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11392/2423264Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088450709; https://www.frontiersin.org/articles/10.3389/fgene.2020.00605/fullTest; https://www.frontiersin.org/articles/10.3389/fgene.2020.00605/pdfTest

    الإتاحة: https://doi.org/10.3389/fgene.2020.00605Test
    http://hdl.handle.net/11392/2423264Test

    View record in BASE

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    228 IL-36 is a hallmark of Netherton syndrome with type I IFN, Th2 and Th9 responses distinguishing its dual clinical presentation

    المؤلفون: Barbieux, C., Bonnet-des-Claustres, M., Fahrner, M., Tsoi, L., Gouin, O., Petrova, E., Bourrat, E., Schilling, O., Gudjonsson, J., Hovnanian, A.

    المصدر: Journal of Investigative Dermatology ; volume 141, issue 10, page S188 ; ISSN 0022-202X

    مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

    الإتاحة: https://doi.org/10.1016/j.jid.2021.08.233Test
    https://api.elsevier.com/content/article/PII:S0022202X21019229?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022202X21019229?httpAccept=text/plainTest

    View record in BASE

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    183 Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity

    المؤلفون: Darbord, D., Hickman, G., Pironon, N., Barbieux, C., Bonnet-des-Claustres, M., Miskinyte, S., Titeux, M., Bourrat, E., Hovnanian, A.

    المصدر: Journal of Investigative Dermatology ; volume 141, issue 10, page S179 ; ISSN 0022-202X

    مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

    الإتاحة: https://doi.org/10.1016/j.jid.2021.08.187Test
    https://api.elsevier.com/content/article/PII:S0022202X21018765?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022202X21018765?httpAccept=text/plainTest

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث