Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Heidi Fodstad"'
Autor:
Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consisten
Externí odkaz:
https://doaj.org/article/97f01ac4fe4242c6ba325a24963c3318
Autor:
Gabriella Guzzo, Salima Sadallah, Heidi Fodstad, Jean-Pierre Venetz, Samuel Rotman, Daniel Teta, Thierry Gauthier, Giuseppe Pantaleo, Andrea Superti-Furga, Manuel Pascual
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Despite appropriate therapy, 20–40% of affected-patients evolve toward end-stage kidney disease (ESKD). Mesangial IgA deposits are the hallmark of IgAN, and complement
Externí odkaz:
https://doaj.org/article/e6caa2208b5845a1a1e61ab05814ff2f
Autor:
Beryl Royer‐Bertrand, Sébastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz‐Crettol, Heidi Fodstad, Andrea Superti‐Furga, Jean‐Marc Good
Publikováno v:
American Journal of Medical Genetics Part A. 191:1658-1663
Autor:
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Publikováno v:
European Journal of Human Genetics, 31(4), 461-468. Nature Publishing Group
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases
Autor:
Michel Vekemans, Tania Attié-Bitach, Géraldine Van Winckel, Fabienne Giuliano, Amale Achaiaa, Heidi Fodstad, Andrea Superti-Furga, Ahmed El Mouatani, Sandra Whalen, Sophie Kaltenbach, Khaoula Zaafrane-Khachnaoui
Publikováno v:
American Journal of Medical Genetics Part A. 185:3831-3837
Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the literature, and mend
Autor:
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Publikováno v:
Genes; Volume 13; Issue 1; Pages: 29
Genes
Genes, Vol 13, Iss 29, p 29 (2022)
Genes, vol. 13, no. 1, pp. 29
Genes
Genes, Vol 13, Iss 29, p 29 (2022)
Genes, vol. 13, no. 1, pp. 29
The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthro
Publikováno v:
Forum Médical Suisse ‒ Swiss Medical Forum.
Publikováno v:
Swiss Medical Forum ‒ Schweizerisches Medizin-Forum.
Autor:
Julien Vionnet, Montserrat Fraga, Sheila Unger, Monika Haubitz, Igor Letovanec, Michel Gonzalez, Romain Lazor, Darius Moradpour, Sophie Voruz, Amedeo Sciarra, Christine Sempoux, Emmanuel Jacquemin, Gabriela M. Baerlocher, Eleni Moschouri, Cécile Daccord, Olaia Naveiras, Heidi Fodstad, Emiliano Giostra
Publikováno v:
Liver transplantation, vol. 26, no. 6, pp. 840-844
Telomeres are DNA-protein structures located at the chromosome ends and terminating with an essential single-stranded 3'-overhang. 1 Their role is to maintain genomic integrity by protecting chromosomes from degradation and illegitimate recombination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee511b7c3f94b3b63334f8a60868974
https://serval.unil.ch/notice/serval:BIB_67847DD9BC0A
https://serval.unil.ch/notice/serval:BIB_67847DD9BC0A
Autor:
Carlo Rivolta, Andrea Superti-Furga, Sébastien Lebon, Beryl Royer-Bertrand, Eliane Roulet-Perez, Mathieu Quinodoz, Claudia Poloni, Filipa Bastos, Heidi Fodstad, Marie-Claude Addor
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC neurology, vol. 20, no. 1, pp. 17
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC neurology, vol. 20, no. 1, pp. 17
Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among t