Zobrazeno 1 - 10 of 29 pro vyhledávání: '"I.J. de Wijs"'
1
Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood
Autor: I.J. de Wijs, E.C.M. Mariman, B.C.J. Hamel, H.-H. Ropers, Erik A. Sistermans, H. Kremer, B. Van Den Helm, W.F.M. Arts
Publikováno v: Human Genetics, 98, 5, pp. 513-517
Human Genetics, 98, pp. 513-517
Human Genetics, 98, 513-517
Human Genetics, 98(5), 513-517. Springer Verlag
Kremer, H, Hamel, B C J, Van den Helm, B, Arts, W F M, De Wijs, I J, Sistermans, E A, Ropers, H H & Mariman, E C M 1996, ' Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood ', Human Genetics, vol. 98, no. 5, pp. 513-517 . https://doi.org/10.1007/s004390050250
Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal cour
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d52820ecff30b1ff7cb58e65c4d140a
http://www.scopus.com/inward/record.url?scp=0029809954&partnerID=8YFLogxK
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2
A mitochondrial tRNAVal gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes
Autor: B.A. van Oost, Erik A. Sistermans, H. J. M. Smeets, Coriene E. Catsman-Berrevoets, J. B. C. de Klerk, Hans R. Scholte, I.F.M. de Coo, I.J. de Wijs, H.F.M. Busch
Publikováno v: Neurology, 50(1), 293-295. Lippincott Williams and Wilkins
De Coo, I F M, Sistermans, E A, De Wijs, I J, Catsman-Berrevoets, C, Busch, H F M, Scholte, H R, De Klerk, J B C, Van Oost, B A & Smeets, H J M 1998, ' A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes ', Neurology, vol. 50, no. 1, pp. 293-295 . https://doi.org/10.1212/WNL.50.1.293
We studied a patient with the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) for mitochondrial DNA mutations in muscle. Established MELAS mutations were excluded. Mitochondrial DNA was further analyzed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb8e3285cfe39d0edd87e2df5088ef98
https://doi.org/10.1212/wnl.50.1.293
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3
Enzymological versus DNA investigations in mitochondrial (encephalo-)myopathies
Autor: D. D. De Vries, I.J. de Wijs, J. M. F. Trijbels, B.A. van Oost, Wim Ruitenbeek
Publikováno v: Journal of Inherited Metabolic Disease. 16:534-536
The molecular basis of most types of deficiency in mitochondrial energy metabolism is still unknown. Application of newly developed DNA technology to the relatively small mtDNA molecule with known base sequence has resulted in the detection of deleti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1d0dbe957d0564c755fec57982f6199
https://doi.org/10.1007/bf00711674
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4
Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
Autor: I.F.M. de Coo, B.A. van Oost, Erik A. Sistermans, I.J. de Wijs
Publikováno v: Sistermans, E A, De Coo, R F M, De Wijs, I J & Van Oost, B A 1998, ' Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease ', Neurology, vol. 50, no. 6, pp. 1749-1754 . https://doi.org/10.1212/WNL.50.6.1749
Neurology, 50, 1749-1754. Lippincott Williams & Wilkins
Neurology, 50(6), 1749-1754. Lippincott Williams and Wilkins
Background/Objective: Pelizaeus-Merzbacher disease (PMD), an X-linked recessive dysmyelination disorder, is caused by mutations in the proteolipid protein (PLP) gene. However, missense mutations were only found in a fraction of PMD patients, even in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dee6a2946920974cfbdadd7b7ec430c
https://research.vumc.nl/en/publications/32d5bf44-f6cb-4815-8552-4be153e56498
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5
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
Autor: R.F.M. de Coo, I.J. de Wijs, B.A. van Oost, L.M.E. Smit, Erik A. Sistermans, F.H. Menko
Publikováno v: Human Genetics, 97(3), 337-339. Springer Verlag
Human Genetics, 97, 337-339
Human Genetics, 97, pp. 337-339
Human Genetics, 97, 3, pp. 337-339
Sistermans, E A, De Wijs, I J, De Coo, R F M, Smit, L M E, Menko, F H & Van Oost, B A 1996, ' A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family ', Human Genetics, vol. 97, no. 3, pp. 337-339 . https://doi.org/10.1007/BF02185767
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutations causing either overexpression or expr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e11a1546e8dce16a66947fad58f42e0
https://pubmed.ncbi.nlm.nih.gov/8786077
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6
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation
Autor: Christophe Philippe, I.J. de Wijs, J.T. den Dunnen, J.A. Maat-Kievit, G.J.B. van Ommen, Frans P.M. Cremers, Y.J.M. de Kok, H.-H. Ropers, Anthony P. Monaco, Hubert J.M. Smeets, T.J.R. van de Pol, I Scholten, S.M. van der Maarel, H Van Bokhoven, I. Huber
Publikováno v: European Journal of Human Genetics, 3, pp. 207-218
European Journal of Human Genetics, 3, 4, pp. 207-218
European Journal of Human Genetics, 3, 207-218
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=doi_dedup___::5204f7fc2c5e3a662dfe98219a0356da
https://hdl.handle.net/2066/123982
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7
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder
Autor: Gerhard Wolff, H.-H. Ropers, B.A. van Oost, I.J. de Wijs, D. D. De Vries, U.-P. Ketelsen
Publikováno v: Human genetics. 91(1)
A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now ident
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587d2e7c8386dd9f853efd2d685332f1
https://pubmed.ncbi.nlm.nih.gov/8454287
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9
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
Autor: I.J. de Wijs, Paul F. J. Koppens, Hubert J.M. Smeets, H J Degenhart
Publikováno v: Journal of Medical Genetics, 40, e53
Journal of Medical Genetics, 40, 5, pp. e53
In the human genome, the major histocompatibility complex class III region on chromosome 6p21.3 stands out as an area of remarkably high gene density.1,2 Within this region, a section of particular complexity centres around the C4 genes, which encode
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fdb94f01d662a1daf62ed5881eb620
https://hdl.handle.net/2066/124036
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10
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