يعرض 1 - 10 نتائج من 14 نتيجة بحث عن '"The MYO-SEQ consortium"', وقت الاستعلام: 1.49s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    المؤلفون: MYO-SEQ Consortium, Toepf, Ana, Lähdetie, Jaana, Strang-Karlsson, Sonja, Wallgren-Pettersson, Carina

    المساهمون: HUSLAB, HUS Children and Adolescents, Clinicum, Medicum

    مصطلحات موضوعية: 3124 Neurology and psychiatry, next-generation sequencing, targeted exome analysis, neuromuscular disease, limb-girdle weakness, genetic diagnosis, 3123 Gynaecology and paediatrics

    وصف الملف: application/pdf

    العلاقة: We thank the patients for donating their tissue samples. MYO-SEQ was funded by Sanofi Genzyme, Ultragenyx, LGMD2I Research Fund, Samantha J. Brazzo Foundation, LGMD2D Foundation and Kurt+Peter Foundation, Muscular Dystrophy UK, and Coalition to Cure Calpain 3. Analysis was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute grant UM1 HG008900, and in part by National Human Genome Research Institute grant R01 HG009141.; MYO-SEQ Consortium , Toepf , A , Lähdetie , J , Strang-Karlsson , S & Wallgren-Pettersson , C 2020 , ' Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness ' , Genetics In medicine , vol. 22 , no. 9 , pp. 1478-1488 . https://doi.org/10.1038/s41436-020-0840-3Test; 85086267166; ab7032d7-db79-43dc-87a2-473e7597d891; http://hdl.handle.net/10138/328160Test; 000539889800001

    الإتاحة: http://hdl.handle.net/10138/328160Test

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  2. 2
    دورية أكاديمية
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

    المؤلفون: Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R, England, Eleina M, Laricchia, Kristen M, Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B, Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G, MYO-SEQ consortium, Straub, Volker, Paquay, Stéphanie, Van den Bergh, Peter, Van Parys, Vinciane

    المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de neurologie pédiatrique

    المصدر: Genetics in medicine, Vol. 22, no.9, p. 1478-1488 (2020)

    مصطلحات موضوعية: Anoctamins, Exome, Glucosyltransferases, Humans, Muscular Dystrophies, Limb-Girdle, Whole Exome Sequencing, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis

    العلاقة: boreal:250212; http://hdl.handle.net/2078.1/250212Test; info:pmid/32528171; urn:ISSN:1098-3600; urn:EISSN:1530-0366

    الإتاحة: https://doi.org/10.1038/s41436-020-0840-3Test
    http://hdl.handle.net/2078.1/250212Test

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  3. 3
    دورية أكاديمية
    P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project

    المؤلفون: Duff, J., Topf, A., Cox, D., Specht, S., Mroczek, M., England, E., Chao, K., MacArthur, D., M. MYO-SEQ Consortium, Straub, V.

    المصدر: Neuromuscular Disorders ; volume 29, page S98-S99 ; ISSN 0960-8966

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

    الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.227Test
    https://api.elsevier.com/content/article/PII:S0960896619306157?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0960896619306157?httpAccept=text/plainTest

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  4. 4
    دورية أكاديمية
    P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

    المؤلفون: Topf, A., Casasus, A., Barresi, R., Johnson, K., Mroczek, M., Duff, J., Phillips, L., England, E., Xu, L., Valkanas, E., MacArthur, D., Straub, V., MYO-SEQ consortium

    المصدر: Neuromuscular Disorders ; volume 29, page S99-S100 ; ISSN 0960-8966

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

    الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.230Test
    https://api.elsevier.com/content/article/PII:S0960896619306182?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0960896619306182?httpAccept=text/plainTest

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  5. 5
    دورية أكاديمية
    P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant?

    المؤلفون: Mroczek, M., Töpf, A., Duff, J., Barresi, R., Hudson, J., England, E., Chao, K., MacArthur, D., Straub, V., MYO-SEQ consortium

    المصدر: Neuromuscular Disorders ; volume 29, page S103 ; ISSN 0960-8966

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

    الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.242Test
    https://api.elsevier.com/content/article/PII:S0960896619306303?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0960896619306303?httpAccept=text/plainTest

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  6. 6
    دورية أكاديمية
    E-POSTERS – NEXT GENERATION SEQUENCING

    المؤلفون: Topf, A., Johnson, K., Mroczek, M., Phillips, L., Duff, J., Valkanas, E., England, E., MacArthur, D., Straub, V., MYO-SEQ consortium

    المصدر: Neuromuscular Disorders ; volume 29, page S180 ; ISSN 0960-8966

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

    الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.502Test
    https://api.elsevier.com/content/article/PII:S0960896619308909?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0960896619308909?httpAccept=text/plainTest

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  7. 7
    P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project

    المؤلفون: J. Duff, A. Topf, D. Cox, S. Specht, M. Mroczek, E. England, K. Chao, D. MacArthur, null M. MYO-SEQ Consortium, V. Straub

    المصدر: Neuromuscular Disorders. 29:S98-S99

    مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, RNA splicing, Neurology (clinical), Biology, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7317b4ee0ed46b575e568736ddec02ecTest
    https://doi.org/10.1016/j.nmd.2019.06.227Test


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  8. 8
    P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

    المؤلفون: A. Topf, A. Casasus, R. Barresi, K. Johnson, M. Mroczek, J. Duff, L. Phillips, E. England, L. Xu, E. Valkanas, D. MacArthur, V. Straub, null MYO-SEQ consortium

    المصدر: Neuromuscular Disorders. 29:S99-S100

    مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Interpretation (philosophy), Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, Neurology (clinical), LIMB GIRDLE MUSCLE WEAKNESS, business, Gene, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::07798a3f50280191c8134d31c14ef75cTest
    https://doi.org/10.1016/j.nmd.2019.06.230Test


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  9. 9
    P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant?

    المؤلفون: M. Mroczek, A. Töpf, J. Duff, R. Barresi, J. Hudson, E. England, K. Chao, D. MacArthur, V. Straub, null MYO-SEQ consortium

    المصدر: Neuromuscular Disorders. 29:S103

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

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6041e6413f581daa1b28fc626ce2573fTest
    https://doi.org/10.1016/j.nmd.2019.06.242Test


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  10. 10
    E-POSTERS – NEXT GENERATION SEQUENCING

    المؤلفون: A. Topf, K. Johnson, M. Mroczek, L. Phillips, J. Duff, E. Valkanas, E. England, D. MacArthur, V. Straub, null MYO-SEQ consortium

    المصدر: Neuromuscular Disorders. 29:S180

    مصطلحات موضوعية: Neurology, Computer science, Pediatrics, Perinatology and Child Health, Neurology (clinical), Computational biology, Genetics (clinical), DNA sequencing

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d54c6152caf1c4b411c089089c159c3cTest
    https://doi.org/10.1016/j.nmd.2019.06.502Test


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