De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Autor: Duangrurdee Wattanasirichaigoon, Frédérique Magdinier, Axel M. Hillmer, Mung Kei Kong, Sabine Sigaudy, Myriam Oufadem, Hicham Filali, Hülya Kayserili, Christopher T. Gordon, Denise Williams, Peter Nürnberg, Carine Bonnard, Stanislas Lyonnet, Camille Dion, Siham Chafai Elalaoui, Jeanne Amiel, Audrey S.M. Teo, Nobuhiko Okamoto, Bruno Reversade, Asif Javed, Dieter Meschede, Alex Magee, Abdelaziz Sefiani, Rachel E A Irving, Alexandra D. Gurzau, James M. Murphy, Nicola K. Ragge, Bernd Wollnik, Gökhan Tunçbilek, Koh-ichiro Yoshiura, Chalermpong Chatdokmaiprai, Tamara Beck, Hallvard Reigstad, Christine Bole-Feysot, Kelan Chen, Nicolas Lévy, Michael L. Cunningham, Nadine Rosin, Ruth McGowan, Holger Thiele, Janine Altmüller, Vinod Varghese, Nawfal Fejjal, Patrick Nitschké, Ilham Ratbi, Marnie E. Blewitt, Gökhan Yigit, Wolfgang Mühlbauer, Meriem Fikri, Shifeng Xue, S Faisal Ahmed

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩

International audience; Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d4299acf7797337cbb50e49b05342
https://hal.archives-ouvertes.fr/hal-01617529/document

1.54μm room temperature emission from Er-doped Si nanocrystals deposited by ECR-PECVD

Autor: E. A. Irving, Jan Misiewicz, Jacek Wojcik, A. Podhorodecki, Peter Mascher

Publikováno v: Journal of Luminescence. 121:230-232

In this work, silicon nanocrystals (Si-nc) embedded in a silicon-rich silicon oxide (SRSO) matrix doped with Er 3+ ions for different erbium and silicon concentrations have been deposited by electron-cyclotron resonance plasma-enhanced chemical-vapor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c7dfc0b31540873eb5913c32ef59db3
https://doi.org/10.1016/j.jlumin.2006.07.017

Intracortical perfusion of glutamate in vivo induces alterations of tau and microtubule-associated protein 2 immunoreactivity in the rat

Autor: Deborah Dewar, E. A. Irving, James McCulloch

Publikováno v: Acta Neuropathologica. 92:186-196

Modifications of microtubule-associated proteins (MAP) have been reported in both acute and chronic degenerative conditions, such as cerebral ischaemia and Alzheimer's disease, and may be associated with cytoskeletal breakdown. Glutamate excitotoxici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51bb94ec2d509646591aa2d9bb508cac
https://doi.org/10.1007/s004010050507

THE MOUVEMENT REPUBLICAIN POPULAIRE (MRP) Emergence and Characteristics Electoral Geography, Performance and Sociology Organization, Discipline and Leadership

Autor: R. E. M. Irving

Publikováno v: Christian Democracy in France (Routledge Revivals) ISBN: 9780203849446

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33b5d36e7d336d848b70c5da78289bb3
https://doi.org/10.4324/9780203849446-7

X-ray diffraction study of crystalline Si nanocluster formation in annealed silicon-rich silicon oxides

Autor: M. Flynn, Tyler Roschuk, E. A. Irving, David Comedi, Jacek Wojcik, O. H. Y. Zalloum, Peter Mascher

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

The formation and subsequent growth of crystalline silicon nanoclusters (Si-ncs) in annealed silicon-rich silicon oxides (SRSOs) were studied by glancing angle x-ray diffraction. SRSO samples with Si concentrations (y) of 0.40, 0.42, and 0.45 were gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2f1da02caf7b00f24a0750b4c5f4d7
https://aip.scitation.org/doi/10.1063/1.2162989