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Autor:
Spivak, Jerry L.1 (AUTHOR) jlspivak@jhmi.edu
Publikováno v:
Journal of Clinical Medicine. Nov2024, Vol. 13 Issue 22, p6957. 26p.
Autor:
C. Lebbe, M. Rossi, Josiane Wantyghem, J. Font, Michèle Aubery, G. Haentjens, L. Cohen-Solal, J. Pichon, J. Bonaventure
Publikováno v:
Matrix Biology. 15:503-507
Human fibroblasts with mutated type I collagen have marked defective adhesive capacities on exogenous type I collagen and exogenous fibronectin in comparison to normal fibroblasts. This defective cell adhesion could be partly explained by the decreas
Autor:
Jeffery M. Vance, C.H. Rhodes, H. Osada, B.L Barnoski, Thomas Meitinger, D.B. Zimonjic, N. Tiso, A.A. Bosma, M.J. Kemper, K. Sims, A. Girardet, J. Milbrandt, P. Thorner, V. Fagundes, F. Goossens, L. Rampoldi, E. Boye, H. Chen, J. Hozier, J. Zhou, J. Wienberg, Y. Narain, B. Andréo, M.C Gubler, R.J. Zahorchak, A. Masuda, M.L Budarf, G. Lefort, M. Douaire, J.P. Charlieu, T. Muto, S.J. Zullo, K. Schatteman, M. Herranz, S. Sasaki, J. Gellin, J.P. Park, S. Bortoluzzi, Y. Takei, M.J. Flores, C. Antignac, S.M. Galloway, A. Miyajima, D. Hendriks, F. Pellestor, W.R. Harrison, V. Fillon, S. Scharpé, M. Macville, T. Takahashi, L. Cohen-Solal, F.F.B. Elder, K. Uchida, G. Vanhoof, J. Piñero, N.A. de Haan, A. Yoshimura, Y. Omori, H.M. Henry, R. Cinti, C.R. Merril, I. Ceccherini, M.A. Ferguson-Smith, A. Kawai, L.F. Almeida-Toledo, Z.A. Jenkins, C. Zijlstra, I. Pérez de Castro, Shigenobu Takeda, K. Fredga, F. Cortés, K.G. Dodds, S. Müller, R. Zimbello, R.V. Rambau, B.S. Emanuel, T.J. Robinson, F. Flinter, Y. Yonenaga-Yassuda, G.W. Montgomery, M.A. Juliano, G. Romeo, S.H. Bigner, X. Zhang, K.M. Call, T. Ortiz, C.J. Bell, A. David, S.A. Toledo-Filho, L. Coignet, A. Mäkinen, P.C.M. O’Brien, F.M.C. Fernandes-Matioli, S.E. Antonarakis, L. Larget Piet, L Butler, L. Juliano, T. Fujiwara, N.C. Popescu, G. Valle, Y. Nakamura, M. Suzuki, A. Vignal, C. Wilkes, G. Lanfranchi, J. Inazawa, P. Langlois, T.K. Mohandas, C.H.M. Mellink, K. Yanagisawa, G.A. Danieli, A. Gorodinsky, M. Seri, J.M. Scalzi-Martin, T. Saito, A. Puliti, H. Kyushiki, A.H. Lin, J. Santos, B. Meléndez, E. Takahashi, J.. Fernández-Piqueras, L. Heidet
Publikováno v:
Cytogenetic and Genome Research. 78:I-IV
Publikováno v:
Journal of Biological Chemistry. 269:14751-14758
We describe a new dominant mutation of type I collagen responsible for a recurrent lethal osteogenesis imperfecta. Dermal cultured fibroblasts of the proband produced both normal and overmodified type I collagen chains. Previous results (Cohen-Solal,
Autor:
Victor Stanescu, Pierre Maroteaux, Jacky Bonaventure, P. Freisinger, L. Cohen-Solal, B. Jacob
Publikováno v:
American Journal of Medical Genetics. 49:439-446
A lethal chondrodysplasia characterized by extreme micromelia was diagnosed by ultrasound examination in two sibs whose nonconsanguineous parents were healthy. Radiographic and histopathologic data indicated that the two foetuses (18 and 21 weeks old
Publikováno v:
Archives of Rheumatology. Sep2024, Vol. 39 Issue 3, p358-367. 10p.
Autor:
Krewulak, Karla D.1 (AUTHOR), Jaworska, Natalia1 (AUTHOR), Lee, Laurie2 (AUTHOR), Louis, Julia St.3 (AUTHOR), Dmitrieva, Olesya1 (AUTHOR), Leia, Madison P.1 (AUTHOR), Doig, Christopher1 (AUTHOR), Niven, Daniel J.1 (AUTHOR), Parhar, Ken Kuljit S.1 (AUTHOR), Rochwerg, Bram4 (AUTHOR), West, Andrew5 (AUTHOR), Stelfox, Henry T.1,6 (AUTHOR), Leigh, Jeanna Parsons7 (AUTHOR), Fiest, Kirsten M.1,8,9 (AUTHOR) kmfiest@ucalgary.ca
Publikováno v:
BMC Health Services Research. 8/15/2024, Vol. 24 Issue 1, p1-22. 22p.
Autor:
Zee, Masha S.1 m.zee@amsterdamumc.nl, Pasman, H. Roeline1, Witkamp, Erica2,3, Goossensen, Anne4, Korfage, Ida J.2, Becqué, Yvonne N.3, Nierop-van Baalen, Corine3, van der Heide, Agnes2, Onwuteaka-Philipsen, Bregje D.1
Publikováno v:
BMC Palliative Care. 7/26/2024, Vol. 23 Issue 1, p1-9. 9p.
Publikováno v:
Annales de Chirurgie. 126:494-496