Zobrazeno 1 - 10 of 755 pro vyhledávání: '"Scambler, P.J."'
1
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis
Autor: Seda, M., Geerlings, M.J., Lim, P., Jeyabalan-Srikaran, J., Cichon, A.C., Scambler, P.J., Beales, P.L., Hernandez-Hernandez, V., Stoker, A.W., Jenkins, D.
Publikováno v: Molecular Syndromology, pp. 1-17
Molecular Syndromology, 1-17
STARTPAGE=1;ENDPAGE=17;ISSN=1661-8769;TITLE=Molecular Syndromology
Contains fulltext : 196634.pdf (Publisher’s version ) (Open Access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d0d94778f20c827e5b7cb63662a8fabc
https://hdl.handle.net/2066/196634
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2
Akademický článek
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3
Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect
Autor: Burger, N.B., Bekker, M.N., Kok, E., de Groot, C.J.M., Martin, J.F., Shou, W.N., Scambler, P.J., Lee, Y., Christoffels, V.M., Haak, M.C.
Publikováno v: Burger, N B, Bekker, M N, Kok, E, de Groot, C J M, Martin, J F, Shou, W N, Scambler, P J, Lee, Y, Christoffels, V M & Haak, M C 2015, ' Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect ', Prenatal Diagnosis, vol. 35, no. 13, pp. 1278-1286 . https://doi.org/10.1002/pd.4687
Prenatal Diagnosis, 35(13), 1278-1286
Prenatal Diagnosis, 35(13), 1278-1286. John Wiley and Sons Ltd
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8cc5a92be5402bc9f4a226ad57b465f8
https://hdl.handle.net/1887/99584
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5
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Autor: Schmidts, M., Arts, H.H., Bongers, E.M., Yap, Z., Oud, M.M., Antony, D., Duijkers, L., Emes, R.D., Stalker, J., Yntema, J.B., Plagnol, V., Hoischen, A., Gilissen, C., Forsythe, E., Lausch, E., Veltman, J.A., Roeleveld, N., Superti-Furga, A., Kutkowska-Kazmierczak, A., Kamsteeg, E.J., Elçioglu, N., van Maarle, M.C., Graul-Neumann, L.M., Devriendt, K., Smithson, S.F., Wellesley, D., Verbeek, N.E., Hennekam, R.C., Kayserili, H., Scambler, P.J., Beales, P.L., UK10K, Knoers, N.V., Roepman, R., Mitchison, H.M.
Publikováno v: Journal of medical genetics, 50(5), 309-323. BMJ Publishing Group
Journal of Medical Genetics; Vol 50
Journal of Medical Genetics
Journal of Medical Genetics, 50, 309-223
JOURNAL OF MEDICAL GENETICS, 50(5), 309-323. BMJ PUBLISHING GROUP
Journal of Medical Genetics, vol. 50, no. 5, pp. 309-323
Journal of Medical Genetics, 50, 5, pp. 309-223
Contains fulltext : 116495.pdf (Publisher’s version ) (Open Access) BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f4ecae0d50d08988921f47f5a41b9
https://hdl.handle.net/11424/245562
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6
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Autor: Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C., McInerney-Leo, A., Emes, R.D., Arts, H.H., Tuysuz, B., D'Silva, J., Leo, P.J., Giles, T.C., Oud, M.M., Harris, J.A., Koopmans, M., Marshall, M., Elcioglu, N., Kuechler, A., Bockenhauer, D., Moore, A.T., Wilson, L., Janecke, A.R., Hurles, M.E., Emmet, W., Gardiner, B., Streubel, B., Dopita, B., Zankl, A., Kayserili, H., Scambler, P.J., Brown, M.A., Beales, P.L., Wicking, C., Uk10K, ., Duncan, E.L., Mitchison, H.M.
Publikováno v: American Journal of Human Genetics, 93, 932-44
American journal of human genetics, vol 93, iss 5
American Journal of Human Genetics, 93, 5, pp. 932-44
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 mo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a5aa6b801835dae0ba0e5c364402ab29
http://hdl.handle.net/2066/125690
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7
Akademický článek
5β-Dihydrosteroids: Formation and Properties.
Autor: Penning, Trevor M.1 (AUTHOR) penning@upenn.edu, Covey, Douglas F.2,3 (AUTHOR) dcovey@wustl.edu
Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8857. 18p.
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8
Akademický článek
The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.
Autor: Armentano, Marta1 (AUTHOR) marta.armentano@uniroma1.it, Alisi, Ludovico1 (AUTHOR), Giovannetti, Francesca1 (AUTHOR), Iannucci, Valeria1 (AUTHOR), Lucchino, Luca1 (AUTHOR), Bruscolini, Alice1 (AUTHOR) alice.bruscolini@uniroma1.it, Lambiase, Alessandro1 (AUTHOR)
Publikováno v: Life (2075-1729). Aug2024, Vol. 14 Issue 8, p1006. 12p.
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9
Akademický článek
Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.
Autor: Zhang, Qianwen1 (AUTHOR) zhangqianwen@scmc.com.cn, Huang, Yiguo1 (AUTHOR) huangyg29@sjtu.edu.cn, Gao, Shiyang1 (AUTHOR) gaoshiyang@scmc.com.cn, Ding, Yu1 (AUTHOR) dingyu@scmc.com.cn, Zhang, Hao2 (AUTHOR) zhanghao@scmc.com.cn, Chang, Guoying1 (AUTHOR) changguoying@scmc.com.cn, Wang, Xiumin1 (AUTHOR) changguoying@scmc.com.cn
Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8484. 20p.
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10
Akademický článek
In Vivo Chemical Screening in Zebrafish Embryos Identified FDA-Approved Drugs That Induce Differentiation of Acute Myeloid Leukemia Cells.
Autor: Wei, Xiaona1 (AUTHOR) weixiaona@sjtu.edu.cn, Wang, Wei2 (AUTHOR) wangweivivi@zzu.edu.cn, Yin, Qianlan1 (AUTHOR) yql0218@sjtu.edu.cn, Li, Hongji1 (AUTHOR) toyli2233@sjtu.edu.cn, Ahmed, Abrar1 (AUTHOR) abrar13@bu.edu, Ullah, Rahat1 (AUTHOR) rahat_2020@sjtu.edu.cn, Li, Wei3 (AUTHOR) liweishen@sjtu.edu.cn, Jing, Lili1 (AUTHOR) liweishen@sjtu.edu.cn
Publikováno v: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7798. 18p.
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