Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Autor: Pelletier, F. Perrier, S. Cayami, F.K. Mirchi, A. Saikali, S. Tran, L.T. Ulrick, N. Guerrero, K. Rampakakis, E. Van Spaendonk, R.M.L. Naidu, S. Pohl, D. Gibson, W.T. Demos, M. Goizet, C. Tejera-Martin, I. Potic, A. Fogel, B.L. Brais, B. Sylvain, M. Sébire, G. Lourenço, C.M. Bonkowsky, J.L. Catsman-Berrevoets, C. Pinto, P.S. Tirupathi, S. Strømme, P. De Grauw, T. Gieruszczak-Bialek, D. Krägeloh-Mann, I. Mierzewska, H. Philippi, H. Rankin, J. Atik, T. Banwell, B. Benko, W.S. Blaschek, A. Bley, A. Boltshauser, E. Bratkovic, D. Brozova, K. Cimas, I. Clough, C. Corenblum, B. Dinopoulos, A. Dolan, G. Faletra, F. Fernandez, R. Fletcher, J. Garcia Garcia, M.E. Gasparini, P. Gburek-Augustat, J. Gonzalez Moron, D. Hamati, A. Harting, I. Hertzberg, C. Hill, A. Hobson, G.M. Innes, A.M. Kauffman, M. Kirwin, S.M. Kluger, G. Kolditz, P. Kotzaeridou, U. La Piana, R. Liston, E. McClintock, W. McEntagart, M. McKenzie, F. Melançon, S. Misbahuddin, A. Suri, M. Monton, F.I. Moutton, S. Murphy, R.P.J. Nickel, M. Onay, H. Orcesi, S. Özklnay, F. Patzer, S. Pedro, H. Pekic, S. Pineda Marfa, M. Pizzino, A. Plecko, B. Poll-The, B.T. Popovic, V. Rating, D. Rioux, M.-F. Rodriguez Espinosa, N. Ronan, A. Ostergaard, J.R. Rossignol, E. Sanchez-Carpintero, R. Schossig, A. Senbil, N. Sønderberg Roos, L.K. Stevens, C.A. Synofzik, M. Sztriha, L. Tibussek, D. Timmann, D. Tonduti, D. Van De Warrenburg, B.P. Vázquez-López, M. Venkateswaran, S. Wasling, P. Wassmer, E. Webster, R.I. Wiegand, G. Yoon, G. Rotteveel, J. Schiffmann, R. Van Der Knaap, M.S. Vanderver, A. Martos-Moreno, G.Á. Polychronakos, C. Wolf, N.I. Bernard, G.

Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::13d65a3f387ee745191f9a1bb18670fb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076336

Rates and social patterning of household smoking and breastfeeding in contrasting European settings.

Autor: Papadimitriou, G.¹ (AUTHOR), Kotzaeridou, U.¹ (AUTHOR), Mouratidis, C.¹ (AUTHOR), Goularas, P.¹ (AUTHOR), Coe, C.² (AUTHOR), Ganas, A.³ (AUTHOR), Spencer, N. J.² (AUTHOR)

Publikováno v: Child: Care, Health & Development. Sep2005, Vol. 31 Issue 5, p603-610. 8p. 3 Charts, 2 Graphs.

Outcome of severe unilateral cerebellar hypoplasia

Autor: Poretti, A, Limperopoulos, C, Roulet-Perez, E, Wolf, N I, Rauscher, C, Prayer, D, Müller, A, Weissert, M, Kotzaeridou, U, Du Plessis, A J, Huisman, T A G M, Boltshauser, E

Publikováno v: Developmental Medicine and Child Neurology, 52(8), 718-724. Wiley-Blackwell
Poretti, A, Limperopoulos, C, Roulet-Perez, E, Wolf, N I, Rauscher, C, Prayer, D, Muller, A, Weissert, M, Kotzaeridou, U, Du Plessis, A J, Huisman, T A G M & Boltshauser, E 2010, ' Outcome of severe unilateral cerebellar hypoplasia ', Developmental Medicine and Child Neurology, vol. 52, no. 8, pp. 718-724 . https://doi.org/10.1111/j.1469-8749.2009.03522.x

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1c2ad7e5c2aea71a65e58263cdca4c
https://research.vumc.nl/en/publications/b1e2d31d-c9cf-4b3d-bc33-6de25f14453f

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