Výsledky vyhledávání - "W. S. Frankhuizen"

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Autor: W. H. J. P. Linssen, Ludo van der Pol, Nicol C. Voermans, René de Coo, Annemarie Fock, Ieke B. Ginjaar, Jessica E. Hoogendijk, Marianne de Visser, Karin G. Faber, Jan B. M. Kuks, Aad Verrips, Anneke J. van der Kooi, Erik H. Niks, Esther Brusse, Dineke Westra, Leroy ten Dam, Chiara S. M. Straathof, W. S. Frankhuizen

Publikováno v: Clinical Genetics, 96, 126-133
Clinical Genetics, 96(2), 126-133. Wiley
Clinical Genetics, 96, 2, pp. 126-133
Clinical Genetics, 96(2), 126-133. Wiley-Blackwell Publishing Ltd
Clinical genetics, 96(2), 126-133. Wiley-Blackwell
Clinical Genetics, 96(2), 126-133

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88c33d642921b9cb1b50567c5c9f669
https://pure.eur.nl/en/publications/fea36a87-4c8c-4bf4-81c3-b0b74f15b70a

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Author response for 'Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients.'

Autor: C. G. Faber, Jan B. M. Kuks, W. S. Frankhuizen, H.B. Ginjaar, A. J. van der Kooi, W. H. J. P. Linssen, Chiara S. M. Straathof, M. de Visser, L. ten Dam, Dineke Westra, Johanna M. Fock, W.L. van der Pol, Nicol C. Voermans, Esther Brusse, I.F.M. de Coo, Jessica E. Hoogendijk, Aad Verrips, Erik H. Niks

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a68271c42a6fbaffe7d038370bc7ae3
https://doi.org/10.1111/cge.13544/v2/response1

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ANO5 mutations in the Dutch limb girdle muscular dystrophy population

Autor: Leroy ten Dam, Chiara S. M. Straathof, Ieke B. Ginjaar, Pieter A. van Doorn, W. S. Frankhuizen, Marianne de Visser, Anneke J. van der Kooi

Publikováno v: Neuromuscular disorders, 23(6), 456-460. Elsevier Limited
Neuromuscular Disorders, 23(6), 456-460. Elsevier Ltd.
Neuromuscular Disorders, 23(6), 456-460

A Dutch cohort of 105 limb girdle muscular dystrophy (LGMD) patients were subject to subsequent genetic investigations. In half the families a causative mutation was found. Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like my

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75eeadca04f452ce627e8284b591f0ac
https://doi.org/10.1016/j.nmd.2013.03.012

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Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Autor: Elles M. J. Boon, D. E. Fransen van de Putte, Claudia A. L. Ruivenkamp, Antoinet C.J. Gijsbers, L. Groenewegen, A. J. van Essen, Katelijne Bouman, Rienk Y. J. Tamminga, W. S. Frankhuizen, L. Vijfhuizen

Publikováno v: Fransen van de Putte, D E, Frankhuizen, W S, Vijfhuizen, L, Groenewegen, L, Tamminga, R Y J, Bouman, K, van Essen, A J, Gijsbers, A C J, Ruivenkamp, C A L & Boon, E M J 2015, ' Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients ', Haemophilia, vol. 21, no. 3, pp. e237-e239 . https://doi.org/10.1111/hae.12648
Haemophilia, 21(3), E237-E239. Wiley
Haemophilia, 21(3), e237. Wiley-Blackwell
Haemophilia, 21(3), e237-e239. Wiley-Blackwell Publishing Ltd
Haemophilia, 21(3), E237-E239

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e990a4b699bb9b40fd51ffcc5d24f653
https://hdl.handle.net/1887/105743

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CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

Autor: A H Stam, M D Ferrari, J. Haan, K R J Vanmolkot, H.B. Ginjaar, A.M.J.M. van den Maagdenberg, W. S. Frankhuizen, E E Kors, Rune R. Frants, E Leshinsky-Silver, R Gilad, G M Terwindt, H P H Kremer, Jutta Gärtner, J. Brown

Publikováno v: Clinical Genetics, 74, 5, pp. 481-5
Clinical Genetics, 74, 481-5

Contains fulltext : 70291.pdf (Publisher’s version ) (Closed access) Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65166defbaa02853de53f305d9c08e05
https://hdl.handle.net/2066/70291

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Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

Autor: J.H.J. Wokke, G.J.B. van Ommen, Peter G. Barth, H.B. Ginjaar, W. S. Frankhuizen, Egbert Bakker, C.J. Höweler, George W. Padberg, Axel R. Wintzen, M. de Visser, A. J. van der Kooi, F. Spaans

Publikováno v: Neurology, 68, 2125-8
Neurology, 68(24), 2125-2128. Lippincott Williams and Wilkins
Neurology, 68, 24, pp. 2125-8

Item does not contain fulltext Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and dysferlin were analyzed on muscle tissue. Mutation analysis of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1000ceeb526c80ef54e22058268e26b5
http://hdl.handle.net/2066/52157

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The insulin receptor tyrosine kinase domain in a chimaeric epidermal growth factor-insulin receptor generates Ca2+ signals through the PLC-gamma1 pathway

Autor: G. C. M. van der Zon, W. S. Frankhuizen, D. Telting, R. L. L. Smeets, Peter H.G.M. Willems, Johannes A Maassen

Publikováno v: Biochimica et Biophysica Acta-Protein Structure and Molecular Enzymology, 1431, 421-432
Biochimica et Biophysica Acta-Protein Structure and Molecular Enzymology, 1431, pp. 421-432

The receptors for insulin (IR) and epidermal growth factor (EGFR) are members of the tyrosine kinase receptor (TKR) family. Despite homology of their cytosolic TK domains, both receptors induce different cellular responses. Tyrosine phosphorylation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a0b8860908335f2fac4ab840752e14
https://doi.org/10.1016/S0167-4838(99)00063-1

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