Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tooth Abnormalities/genetics"'
Autor:
P Calvas, S. El Hout, Nicolas Chassaing, C. Zazo Seco, Adeline Vigouroux, Laurence Bouneau, P. Vande Perre, O. Patat, D. Bourgeois
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 61 (2), pp.72-78. ⟨10.1016/j.ejmg.2017.10.018⟩
European Journal of Medical Genetics, Elsevier, 2018, 61 (2), pp.72-78. ⟨10.1016/j.ejmg.2017.10.018⟩
International audience; Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f330969446e0c068008632ceb1de024
https://doi.org/10.1016/j.ejmg.2017.10.018
https://doi.org/10.1016/j.ejmg.2017.10.018
Autor:
Victor Martinez-Glez, Vera Lúcia Gil da Silva Lopes, Federico Tessadori, Sheela Nampoothiri, Connie S. Motter, Marie-José H. van den Boogaard, Patrick W. B. Derksen, Catherine Ward Melver, Madelon M. Maurice, Corstiaan C. Breugem, Hülya Kayserili, Max Krall, Leontine van Unen, Fernando Santos-Simarro, Annelies de Klein, Jeroen Bakkers, Pablo Lapunzina, Elaine Lustosa-Mendes, Anneke Kievit, Margo L. Whiteford, Anne Slavotinek, Hannie Douben, Michael L. Cunningham, Nancy Mizue Kokitsu-Nakata, Wilfred F. J. van IJcken, Koen L.I. van Gassen, Gijs van Haaften, Anne V. Hing, Annette F. Baas, Antonio Richieri-Costa, Maarten P.G. Massink, Raoul C.M. Hennekam, Karen Duran, Siulan Vendramini-Pittoli, Jeannette Hoogeboom, Marco Castori, Ingrid Jordens
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
European Journal of Human Genetics, 26(2), 210-219. Nature Publishing Group
European journal of human genetics, 26(2), 210-219. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Universidade de São Paulo (USP)
instacron:USP
European Journal of Human Genetics, 26(2), 210-219. Nature Publishing Group
European journal of human genetics, 26(2), 210-219. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a718ff8c207d17a228fe00c58947c35c
Autor:
Melanie April Pritchard, Josep Pujals, Antonio Mur, Jean-Louis Blouin, Francesca Ballesta, Xavier Estivill, Stylianos E. Antonarakis, Montserrat Milà, Marga Nadal
Publikováno v:
Human Genetics, Vol. 98, No 4 (1996) pp. 460-466
Most cases of Down syndrome (DS) result from a supernumerary chromosome 21; however, there are rare cases in which DS is due to partial trisomy of chromosome 21, involving various segments of the chromosome. The characterization of cases of DS that a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1245b0b313bbae9b0b52b23b583e23
https://doi.org/10.1007/s004390050240
https://doi.org/10.1007/s004390050240
Autor:
Laure Willen, Sylvia A. Frazier-Bowers, Gabriele Mues, Hitesh Kapadia, Rena N. D'Souza, Pascal Schneider, Aubry Tardivel, Robyn Seaman
Publikováno v:
Eur J Hum Genetics
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a21bcc7915207bf7eb1c97d86656e1