Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Sophie Currier"'
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Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome
Autor: Wafaa Eyaid, Greg Enns, Adria Bodell, G. Shashidhar Pai, Leela Job, William B. Dobyns, Christine K. Lee, Christopher A. Walsh, Bernard S. Chang, Lieven Lagae, Sophie Currier, Lihadh Al-Gazali
Publikováno v: American Journal of Medical Genetics Part A. :53-57
Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Chicago, IllinoisWalker–Warburg syndrome (WWS) is an autoso-mal recessive disorder of infancy characterizedby hydrocephalus, agyria, retinal dysplasia, con-genital muscu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0bc63b060da969a8cf5b03a9f76c5b
https://doi.org/10.1002/ajmg.a.30487
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3
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
Autor: B.C.J. Hamel, William B. Dobyns, E. van Beusekom, S. Kant, W. van den Akker, Sophie Currier, D. Beltran Valero de Bernabe, Bru Cormand, Haluk Topaloglu, J.H.L.M. van Bokhoven, Han G. Brunner, Beril Talim
Publikováno v: ResearcherID
Scopus-Elsevier
Journal of Medical Genetics, 40, 11, pp. 845-8
Journal of Medical Genetics, 40, 845-8
Neuronal migration is a key process in the development of the cerebral cortex. During neocortex lamination new sets of neurones proliferate at the subventricular zone and migrate alongside specialised radial glial fibres to occupy their final destina
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dbbe9d1595a55fa3babf36f953a18fb
https://doi.org/10.1136/jmg.40.11.845
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4
Abstracts of papers presented at the ninth international symposium on virus diseases of ornamental plants
Autor: B. D. Harrison, A. J. Malter, A. M. Vaira, V. Lisa, G. P. Accotto, V. Borghi, V. Masenga, E. Luisoni, R. G. Milne, J. Th. J. Verhoeven, J. W. Roenhorst, I. Cortes, D. Peters, P. A. Bianco, G. Belli, A. Gera, M. Gokkes, J. Cohen, B. E. L. Lockhart, Sophie Currier, Inge Bouwen, Rene A. A. van der Vlugt, A. Bertaccini, M. Vibio, M. G. Bellardi, A. Danielli, S. M. Wong, C. G. Chng, P. L. Chong, G. Loebenstein, D. E. Lesemann, I. Mavric, M. Ravnikar, A. Blatnik, H. -G. Preissel, M. Kamiéska, T. Malinowski, B. Komorowska, A. Rudziéska-Langwald, G. Dellavalle, C. Rubies-Autonell, V. Vicchi, A. Crescenzi, L. d’Aquino, A. Ragozzino, P. Piazzolla, S. Levy, A. Franck, R. Solomon, C. G. Matthews, K. S. Milne, H. F. Neilson, R. L. S. Forster, M. Korbin, S. A. Langeveld, O. Shoseyov, A. M. Shamloul, A. van Zaayen, R. Hooftman, M- J. Arts, A. Hadidi, Y. J. La, J. O. Park, H. W. Jung, A. F. L. M. Derks, M. E. C. Lemmers, Th. C. Hollinger, H. T. Hsu, A. R. van Schadewijk, R. Jordan, G. Kinard, Suzanne Hurtt, Y. Antignus, Karen Bech, Karen Husted, Sara Spiegel, C. J. Asjes, G. J. Blom-Barnhoorn, P. G. M. Piron, P. Harrewijn, A. M. van Oosten, B. Raccah, M. Berlinger, Sima Singer, N. Gnaim, Sarah Lebiush-Mordechi, N. E. Olszewski, J. Horváth, J. Mertelék, B. Götzová, V. Mokrá, J. Hammond, A. Gal-On, Efrat Meiri, H. Huet, W. J. Hua, V. Gaba, P. Ceranic-Zagorac, C. Hiruki, Th. P. Straathof, W. Eikelboom, Jaap M. van Tuyl, D. G. McNamara, B. Loberant, Y. Alon, R. H. Lawson, J. E. M. van Ruiten
Publikováno v: Phytoparasitica. 24:321-352
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::af008d80ab363cf6aed9a2829d41b78f
https://doi.org/10.1007/bf02981414
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6
EMX2-independent familial schizencephaly: clinical and genetic analyses
Autor: Füsun Erdoğan, R. Sean Hill, Christopher A. Walsh, Kira Apse, Sophie Currier, Ian Tietjen, Christine K. Lee, Bernard S. Chang
Publikováno v: American journal of medical genetics. Part A. 135(2)
Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878030b19fd5ee984b9768ff702be6ae
https://pubmed.ncbi.nlm.nih.gov/15887302
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7
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Autor: Bert van der Zwaag, Christopher A. Walsh, Hans van Bokhoven, William B. Dobyns, Sophie Currier, Ellen van Beusekom, Jacopo Celli, Daniel Beltrán-Valero de Bernabé, Luciano Merlini, Thomas Voit, Hülya Kayserili, Alice Steinbrecher, Han G. Brunner, Ana Elina Lehesjoki, Jesús Cruces, Bru Cormand, David Chitayat
Publikováno v: American Journal of Human Genetics, 71, 5, pp. 1033-43
ResearcherID
American Journal of Human Genetics, 71, 1033-43
Item does not contain fulltext Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of symptoms is presented by tw
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c6abf34cca52537572fcbc4e5937954
https://www.ncbi.nlm.nih.gov/pubmed/12369018
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8
Characterization of a Potexvirus InfectingHostaspp
Autor: Benham E Lockhart, Sophie Currier
Publikováno v: Plant Disease. 80:1040
A previously undescribed potexvirus, named Hosta virus X (HVX), was found in 17 naturally infected hosta (Hosta spp.) cultivars from Minnesota, Indiana, Illinois, Iowa, and Michigan. HVX was readily transmitted mechanically but infected only Nicotian
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d63caaafd20f76e23a6baf548bee72ce
https://doi.org/10.1094/pd-80-1040
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