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Heimler Syndrome

Autor: S, Mechaussier, I, Perrault, H, Dollfus, A, Bloch-Zupan, N, Loundon, L, Jonard, S, Marlin

Publikováno v: Advances in experimental medicine and biology. 1299

Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the less severe forms of peroxisome biogenesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2013cb9c5d8a2bc0eabaadbb006f8b71
https://pubmed.ncbi.nlm.nih.gov/33417209

Abstracts of the 35th American Cytogenetics Conference

Autor: S. Sakon, M. Hori, Tom Goldammer, P. Stanier, H. Nishimori, S. Châtelin, L.D. Coogle, J. Kaplan, W.J. Kimberling, H.C. Ardley, A.J. Brookes, H. Hirota, C. Janish, J. Eddleston, R. Matsuoka, Manfred Schwerin, M.Z. Limongi, K. Akagawa, A. Vilain, M. Schmid, M.H. Adams, M. Tamari, T. Kawabe, T. Katagiri, D. Diamond, X. Wang, D. Sundaramurthy, S. Ishikawa, M. Mihara, J. Surrallés, S. Sonta, G. Meroni, P.A. Robinson, G. Del Sal, K.S. Reddy, A. Munnich, F.C. Kischkel, O.T. Tap, G. Della Valle, L.F. Pieri, J. Neesen, Y. Daigo, E. Viegas-Péquignot, F.S. Grass, E. Crawford, K. Weipoltshammer, I. Perrault, R.P. Kimberly, G.R. Rutteman, K.J. McDowell, F. Wachtler, Y. Nakamura, K.S. Theil, T. Ono, K. Gardiner, K.J. Fowler, T. Tetsuka, T. Emahazion, R.G. Brzyski, J. McKeand, B. Malfoy, A.J. Copp, C.M. Moore, D. Molina-Gomez, P. Calvas, R.G. Best, P. Franz, A. Ueno, D.M. Hoover, M. Yokoyama, H. Otsuka, L. Gaddini, T. Nakada, M. Tham, M. Gostissa, O. Maruyama, J. Vanselow, A. Beskow, D.A. Campbell, M.R. Koehler, N. Shimizu, K.H.A. Choo, K. Mikoshiba, J.B. Kenyon, K. Kirschhofer, J.N. Murdoch, A.A. Bosma, H. Satoh, S. Weitz, S. Abu-Hayyeh, J.-M. Rozet, H. Yagita, C. Sreekantaiah, A. Poustka, C. Zijlstra, C.L. Anderson, N.A. de Haan, M.-L. Yaspo, P. Sandy, V. Sulcova, U. Gyllensten, N.D. Sullivan, T. Toki, A.A. Szalay, J. Rogers, Y. Miki, K. Chida, L.L. Culley, D.F. Hudson, T.L. Lear, D. Soenksen, J.-P. Yang, F. Pelliccia, M. Yamamoto, M.M. Bouzyk, X. Li, F. Apiou, K. Kogame, D.V. Irvine, M.M. Leland, T. Kuroki, R. Saffery, A. Rocchi, D.L. Maresco, B. Dutrillaux, H. Nakano, A.T. Natarajan, R. Fürbass, P. Lichter, K. Okumura, E. Souied, E. Ito, J.P. Leek, M. Kimura, A.F. Markham, Ronald M. Brunner, P. Kioschis, P.H. Krammer, S. Saccone, S. Gerber, T. Iwata, B.T. Kile, H.E. Trowell, Y. Shimizu, M. Shindo, T. Nakayama, T. Okamoto, E. Bailey, L.E. Blue, S.M. Witte

Publikováno v: Cytogenetic and Genome Research. 82:131-144

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9067d3b3fbac441f832e1c755fbdd86b
https://doi.org/10.1159/000015087

[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]

Autor: S, Hanein, I, Perrault, S, Gerber, G, Tanguy, C, Hamel, J-L, Dufier, J-M, Rozet, J, Kaplan

Publikováno v: Journal francais d'ophtalmologie. 28(1)

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0c01d5d3574df5ea62dbbf255677831c
https://pubmed.ncbi.nlm.nih.gov/15767905

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