Zobrazeno 1 - 10
of 327
pro vyhledávání: '"Maat-Kievit A"'
Autor:
Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky
Publikováno v:
BMC Medical Genetics, Vol 9, Iss 1, p 10 (2008)
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either th
Externí odkaz:
https://doaj.org/article/796973d083bf43faa6ef310f92f98f4e
Autor:
Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, de Man, Stella A., Den Hollander, Nicolette S., Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M., Verheij, Joke B.G.M., Mannens, Marcel M., Hennekam, Raoul C.
Publikováno v:
In European Journal of Medical Genetics May 2015 58(5):279-292
Publikováno v:
European Journal of Epidemiology, 2008 Jan 01. 23(4), 281-287.
Externí odkaz:
https://www.jstor.org/stable/40284046
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
Autor:
Hoogeveen-Westerveld, Marianne, Exalto, Carla, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Publikováno v:
In BBA - Molecular Basis of Disease September 2010 1802(9):774-781
Autor:
Arthur Jorge Santiago Lima, Marianne Hoogeveen-Westerveld, Akio Nakashima, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Ushio Kikkawa, Mark Nellist
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93940 (2014)
The TSC1-TSC2-TBC1D7 complex is an important negative regulator of the mechanistic target of rapamycin complex 1 that controls cell growth in response to environmental cues. Inactivating TSC1 and TSC2 mutations cause tuberous sclerosis complex (TSC),
Externí odkaz:
https://doaj.org/article/520b61817c1c4bdc812669da3bee6825
Autor:
Daniel R. Carvalho, Marcel M.A.M. Mannens, Katalin Szakszon, Nataliya Di Donato, Karin van der Tuin, Lilian Bomme Ousager, Gemma Poke, Jacek Pilch, Adam Shaw, Joke B. G. M. Verheij, Inge B. Mathijssen, Elga Fabia Belligni, Hermann-Josef Lüdecke, Anneke Maat-Kievit, Livia Garavelli, Anna Latos-Bielenska, A. Jeannette M. Hoogeboom, Johanna C. Herkert, Marleen Simon, Ton van Essen, Nicolette S. den Hollander, Anna Poluha, Margharita Silengo, Sabine Grønborg, Johanna M. van Hagen, Edit Polonkai, Astrid S. Plomp, Antony van der Steen, Cinzia Magnani, Connie T.R.M. Stumpel, Stella A. de Man, Jenneke van den Ende, Elisa Biamino, Hennie Bikker, Saskia M. Maas, Carlo Marcelis, Claudine Rieubland, Magdalena Badura-Stronka, Raoul C.M. Hennekam, Ellen Otten, Jan-Maarten Cobben, Renata Posmyk, Elisabeth Steichen, Arie van Haeringen, Maria Teresa Bonati, Aleksander Jamsheer, Maartje Nielsen
Publikováno v:
European journal of medical genetics
European Journal of Medical Genetics, 58(5), 279-292. Elsevier
European journal of medical genetics, 58(5), 279-292. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson SAS
European Journal of Medical Genetics, 58(5), 279-292
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson
Maas, S M, Shaw, A C, Bikker, H, Lüdecke, H-J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, Den Hollander, N S, Di Donato, N, Garavelli, L, Grønborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
Maas, S M, Shaw, A C, Bikker, H, Ludecke, H J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, den Hollander, N S, Di Donato, N, Garavelli, L, Gronborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
European journal of medical genetics, 58(5), 279-292. Elsevier Masson SAS
European Journal of Medical Genetics, 58(5), 279-292. Elsevier
European journal of medical genetics, 58(5), 279-292. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson SAS
European Journal of Medical Genetics, 58(5), 279-292
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson
Maas, S M, Shaw, A C, Bikker, H, Lüdecke, H-J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, Den Hollander, N S, Di Donato, N, Garavelli, L, Grønborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
Maas, S M, Shaw, A C, Bikker, H, Ludecke, H J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, den Hollander, N S, Di Donato, N, Garavelli, L, Gronborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
European journal of medical genetics, 58(5), 279-292. Elsevier Masson SAS
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6e7a7084a30f463b2fe65375363a4f
https://pure.eur.nl/en/publications/55be3a9f-ad53-48c9-b688-120c2e5ca278
https://pure.eur.nl/en/publications/55be3a9f-ad53-48c9-b688-120c2e5ca278
Autor:
Bonifati V., Rohe C. F., Breedveld G. J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D. J., Chien H. F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M. W., Maat Kievit J. A., Sampaio C., Antonini A., Stocchi F., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra B.A., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE
Publikováno v:
Neurology, 65, 87-95
Neurology, 65, 1, pp. 87-95
Neurology, 65(1), 87-95. Lippincott Williams & Wilkins
Neurology, 65, 1, pp. 87-95
Neurology, 65(1), 87-95. Lippincott Williams & Wilkins
Item does not contain fulltext OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8a2828c43dbbcbdf7062ec15cf7e25
https://hdl.handle.net/2066/48716
https://hdl.handle.net/2066/48716
Autor:
P. F. Ippel, J. A. Maat-Kievit, J.P.M. Geraedts, Emilia K. Bijlsma, Cora M. Aalfs, M. C. van Rij, Monique Losekoot, Corien C. Verschuuren-Bemelmans, Mariet W. Elting, R A C Roos, Sascha Vermeer, M. J. van Belzen, Aad Tibben, R. D. M. Belfroid, P. A. M. de Koning Gans, C. E. M. De Die-Smulders
Publikováno v:
Clinical Genetics. 85:78-86
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8ff6e5d016faaa9d3971fe82d792f30
https://doi.org/10.1111/cge.12090
https://doi.org/10.1111/cge.12090
Autor:
Frans W. Verheijen, Bart P.C. van de Warrenburg, Monique Losekoot, Ben A. Oostra, Johan T. den Dunnen, Martijn H. Breuning, Dirk J. Lefeber, Esther Brusse, Gijs W. E. Santen, Yu Sun, Rowida Almomani, Jorrit I. Hoff, Robert M. Verdijk, Anneke Maat-Kievit, Guido J. Breedveld, Marjolein Kriek, Emmelien Aten
Publikováno v:
Human Mutation; Vol 34
Human Mutation, 34(5), 706-713. Wiley-Liss Inc.
Human Mutation, 34, 5, pp. 706-13
Human Mutation, 34(5), 706-713
Human Mutation, 34, 706-13
Human Mutation, 34(5), 706-713. Wiley-Liss Inc.
Human Mutation, 34, 5, pp. 706-13
Human Mutation, 34(5), 706-713
Human Mutation, 34, 706-13
Item does not contain fulltext Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15. We h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0101315dd524e08881ee51df5d23f7bc
Autor:
van der Maarel, SM, Scholten, IH, Maat-Kievit, JA, Huber, I, de Kok, YJ, de Wijs, I, van de Pol, TJ, van Bokhoven, H, den Dunnen, JT, van Ommen, GJ
Microscopically detectable deletions and X;autosome translocations have previously facilitated the construction of a high-resolution interval map of the Xq21 region. Here, we have generated three yeast artificial chromosome contigs spanning approxima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5e3b63f52c0fb740d733857eaffd3d96
https://ora.ox.ac.uk/objects/uuid:98ff7105-a9b8-4cc0-a553-7f1d44581635
https://ora.ox.ac.uk/objects/uuid:98ff7105-a9b8-4cc0-a553-7f1d44581635
