Search Results - "Valentijn, L. J"

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A by Valentijn, L. J, Bolhuis, P. A, Zorn, I, Hoogendijk, J. E, van den Bosch, N, Hensels, G. W, Stanton, V. P, Housman, D. E, Fischbeck, K. H, Ross, D. A, Nicholson, G. A, Meershoek, E. J, Dauwerse, H. G, van Ommen, G. -J. B, Baas, F

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for…”
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Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation by LENSSEN, P. P. A, GABREËLS-FESTEN, A. A. W. M, VALENTIJN, L. J, JONGEN, P. J. H, VAN BEERSUM, S. E. C, VAN ENGELEN, B. G. M, VAN WENSEN, P. J. M, BOLHUIS, P. A, GABREËLS, F. J. M, MARIMAN, E. C. M

“…In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis…”
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Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations by GABREËLS-FESTEN, A. A. W. M, BOLHUIS, P. A, HOOGENDIJK, J. E, VALENTIJN, L. J, ESHUIS, E. J. H. M, GABREËLS, F. J. M

“…Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating…”
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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies by Nicholson, Garth A, Valentijn, Linda J, Cherryson, Annia K, Kennerson, Marina L, Bragg, Tara L, DeKroon, Robert M, Ross, David A, Pollard, John D, Mcleod, James G, Bolhuis, Pieter A, Baas, Frank

“…Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of chromosome 17p. One of four biopsy…”
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Allelotype of pediatric rhabdomyosarcoma by VISSER, M, SIJMONS, C, BRAS, J, ARCECI, R. J, GODFRIED, M, VALENTIJN, L. J, VOUTE, P. A, BAAS, F

“…An allelotype covering all autosomes was constructed for the embryonal form of childhood rhabdomyosarcoma (ERMS) in order to identify regions encompassing…”
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De-novo mutation in hereditary motor and sensory neuropathy type I by Hoogendijk, J E, Hensels, G W, Gabreëls-Festen, A A, Gabreëls, F J, Janssen, E A, de Jonghe, P, Martin, J J, van Broeckhoven, C, Valentijn, L J, Baas, F

“…Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal…”
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Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A by Valentijn, L J, Baas, F, Zorn, I, Hensels, G W, de Visser, M, Bolhuis, P A

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies by Mariman, E C, Gabreëls-Festen, A A, van Beersum, S E, Valentijn, L J, Baas, F, Bolhuis, P A, Jongen, P J, Ropers, H H, Gabreëls, F J

“…Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder of the peripheral nerves leading to increased susceptibility…”
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Genetic basis of peripheral neuropathies by Valentijn, L J, Baas, F

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Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a) by HOOGENDIJK, J. E, JANSSEN, E. A. M, DE VISSER, M, BOLHUIS, P. A, GABREËLS-FESTEN, A. A. W. M, HENSELS, G. W, JOOSTEN, E. M. G, GABREËLS, F. J. M, ZORN, I, VALENTIJN, L. J, BAAS, F, ONGERBOER DE VISSER, B. W

“…The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2…”
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Read-through transcript from NM23-H1 into the neighboring NM23-H2 gene encodes a novel protein, NM23-LV by Valentijn, Linda J., Koster, Jan, Versteeg, Rogier

“…NM23-H1 and NM23-H2 are neighboring genes on chromosome 17q. They encode nucleoside diphosphate kinases that have additional roles in signal transduction,…”
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Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a by Hensels, G W, Janssen, E A, Hoogendijk, J E, Valentijn, L J, Baas, F, Bolhuis, P A

“…Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication…”
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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A by Valentijn, Linda J, Baas, Frank, Wolterman, Ruud A, Hoogendijk, Jessica E, van den Bosch, Norbert H.A, Zorn, Ina, Gabreëls-Festen, Anneke A.W.M, de Visser, Marianne, Bolhuis, Pieter A

“…We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly…”
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Identification of a functional initiator sequence in the human MDR1 promoter by van Groenigen, M, Valentijn, L J, Baas, F

“…The sequence requirements for proper transcriptional initiation of the downstream human multidrug resistance MDR1 (P1) promoter were determined using a…”
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Caprine homologue of rodent 5'-AMP-activated protein kinase subunit and yeast SNF4/CAT3 is down-regulated by thyroid hormone by PIOSIK, P. A, VAN GROENIGEN, M, PONNE, N. J, VALENTIJN, L. J, BOLHUIS, P. A, BAAS, F

“…We isolated a cDNA, B12, that was down-regulated by thyroid hormone (TH) in the goat cerebellum, using a polymerase chain reaction (PCR)-based subtractive…”
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Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation by Valentijn, L J, Ouvrier, R A, van den Bosch, N H, Bolhuis, P A, Baas, F, Nicholson, G A

“…We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropathy. Single-stranded conformation…”
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Mesenchymal-Type Neuroblastoma Cells Escape ALK Inhibitors by Westerhout, Ellen M, Hamdi, Mohamed, Stroeken, Peter, Nowakowska, Natalia E, Lakeman, Arjan, van Arkel, Jennemiek, Hasselt, Nancy E, Bleijlevens, Boris, Akogul, Nurdan, Haneveld, Franciska, Chan, Alvin, van Sluis, Peter, Zwijnenburg, Danny, Volckmann, Richard, van Noesel, Carel J M, Adameyko, Igor, van Groningen, Tim, Koster, Jan, Valentijn, Linda J, van Nes, Johan, Versteeg, Rogier

“…Cancer therapy frequently fails due to the emergence of resistance. Many tumors include phenotypically immature tumor cells, which have been implicated in…”
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Direct regulation of the minichromosome maintenance complex by MYCN in neuroblastoma by Koppen, Arjen, Ait-Aissa, Rachida, Koster, Jan, van Sluis, Peter G, Øra, Ingrid, Caron, Huib N, Volckmann, Richard, Versteeg, Rogier, Valentijn, Linda J

“…Abstract The c-Myc and MYCN oncogenes strongly induce cell proliferation. Although a limited series of cell cycle genes were found to be induced by the myc…”
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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B by Kulkens, T, Bolhuis, P A, Wolterman, R A, Kemp, S, te Nijenhuis, S, Valentijn, L J, Hensels, G W, Jennekens, F G, de Visser, M, Hoogendijk, J E

“…Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and…”
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Inhibition of a new differentiation pathway in neuroblastoma by copy number defects of N-myc, Cdc42, and nm23 genes by VALENTIJN, Linda J, KOPPEN, Arjen, VAN ASPEREN, Ronald, ROOT, Heather A, HANEVELD, Franciska, VERSTEEG, Rogier

“…The best studied oncogenic mechanisms are inactivating defects in both alleles of tumor suppressor genes and activating mutations in oncogenes. Chromosomal…”
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