Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Suzanna G. M. Frints"'
Autor:
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Externí odkaz:
https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556
Autor:
Ben C.J. Hamel, Jamel Chelly, Guido Froyen, Peter Marynen, Suzanna G M Frints, Bernice De Vos, Lut Van Den Berghe, Jean-Pierre Fryns, Claude Moraine, Martine Raynaud, Lin Jun, Koenraad Devriendt, Martine Borghgraef, Hans van Bokhoven, Rudi Teulingkx, Hans-Hilger Ropers, Vincent des Portes, Vera M. Kalscheuer
Publikováno v:
American Journal of Medical Genetics, 119A, 367-74
American Journal of Medical Genetics, 119A, 3, pp. 367-74
American Journal of Medical Genetics, 119A, 3, pp. 367-74
Contains fulltext : 166884.pdf (Publisher’s version ) (Closed access) We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short s
Autor:
Peter Marynen, Guy Froyen, Lin Jun, Suzanna G M Frints, Andrea Herold, Elisa Izaurralde, Jose Abad-Rodrigues, Carlos G. Dotti, Hein Duhamel
Publikováno v:
Current Biology. 11:1381-1391
Background: Although X-linked mental retardation (XLMR) affects 2%–3% of the human population, little is known about the underlying molecular mechanisms. Recent interest in this topic led to the identification of several genes for which mutations r
Autor:
Koen Devriendt, Jean-Pierre Fryns, Lieven Lagae, Peter Marynen, Maria Syrrou, Suzanna G M Frints
Publikováno v:
Annales de Génétique. 44:71-76
We report clinical and molecular investigations in a boy with karyotype 46,Y,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter) and his mother with karyotype 46,X,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter). Haplo-insufficiency for the Xp22.3-->pter chromosomal
Autor:
Marc Boogaerts, Jean Pierre Fryns, Gert Mathijs, Suzanna G M Frints, Peter Vandenberghe, Joost van den Oord, Koenraad Devriendt, Daoqi You, Gregor Verhoef, Marianne Schwartz, Annette S. Kim, Michael K. Rosen
Publikováno v:
Nature Genetics. 27:313-317
The Wiskott-Aldrich syndrome protein (WASP; encoded by the gene WAS) and its homologs are important regulators of the actin cytoskeleton, mediating communication between Rho-family GTPases and the actin nucleation/crosslinking factor, the Arp2/3 comp
Publikováno v:
American Journal of Medical Genetics. 75:153-158
We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic
Autor:
An Snellinx, Guido Froyen, Melitta Schachner, Suzanna G M Frints, Rudi D'Hooge, Kathleen Craessaerts, Karen Hollanders, Peter Paul De Deyn, Bettina Rolf, Jean Steyaert, Dieter H. Hartmann, Jean-Pierre Fryns, Peter Marynen
Publikováno v:
Human molecular genetics
Investigation of MR patients with 3p aberrations led to the identification of the translocation breakpoint in intron five of the neural Cell Adhesion L1-Like (CALL or CHL1) gene in a man with non-specific mental retardation and 46,Y, t(X;3)(p22.1;p26
Publikováno v:
American journal of medical genetics. 112(4)
Partington et al. [1988] described a three-generation family (MRXS1, MIM *309510, PRTS) with a syndromic form of X-linked mental retardation (XLMR). The clinical features in 10 affected males included mild to moderate MR, dystonic movements of the ha
Autor:
Grant R. Sutherland, Suzanne M E Lewis, Marie A. Shaw, Petter Strømme, Jean Pierre Fryns, Gillian Turner, Jozef Gecz, Viggo Lütcherath, Suzanna G M Frints, Karen M. Lower, Robyn H. Wallace, John C. Mulley, Helene Bruyere, Michael Partington, Agi K. Gedeon, Ingrid E. Scheffer, Marie Mangelsdorf
Publikováno v:
Nature genetics. 30(4)
Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in unraveling their molecular basis. The human X chromoso
Publikováno v:
American Journal of Medical Genetics. 112:427-428