Výsledky vyhledávání - "T Dijkhuizen"

Editorial & Opinion

Commentary on Stigter H, Krap T, Gelderman T, Dijkhuizen L, Duijst WLJM. Technical note: practical application of post-mortem mechanical stimulation of skeletal muscle, a field study.

Autor: Madea B; Institute of Legal Medicine, University Hospital Bonn, Stiftsplatz 12, 53111, Bonn, Germany., Doberentz E; Institute of Legal Medicine, Medical University of Innsbruck, Müllerstraße 44, Innsbruck, 6020, Austria. elke.doberentz@i-med.ac.at.

Publikováno v: International journal of legal medicine [Int J Legal Med] 2024 Jul; Vol. 138 (4), pp. 1379-1380. Date of Electronic Publication: 2024 Mar 20.

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor: Alessandro Iuliano, Johanna M. P. Van den Hout, Stijn L.M. in 't Groen, Lies H. Hoefsloot, W.W.M. Pim Pijnappel, David Cassiman, Hannie Douben, Ans T. van der Ploeg, Atze J. Bergsma, Jasper J. Saris, Galhana M. Somers-Bolman, Miguel-Ángel Barba Romero, Douglas O. S. de Faria, Peter Witters, T. Dijkhuizen, Annelies de Klein

Publikováno v: Molecular Therapy-Methods and Clinical Development, 17, 337-348. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ecb78b1b70d26d2f28c85fc9157510
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8

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Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

Autor: Julia El Mecky, T. Dijkhuizen, Anneke Lucassen, Lennart Johansson, Annemieke H. van der Hout, Irene M. van Langen, Angela Fenwick, Mirjam Plantinga, Kate Lyle

Publikováno v: BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
BMC Medical Genomics, 12(1):170. BioMed Central Ltd.

Background In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94474b05bf286c8990482d90b3871f02
https://doi.org/10.1186/s12920-019-0612-6

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Contents Vol. 4, 2013

Autor: B. Leheup, V. David, J. Kaplan, L. Pasquier, D. Jonas, A. Laquerrière, C. Bendavid, E. Baselga, J.B. Mulliken, Augusto Rojas-Martinez, O. Patat, Juliana F. Mazzeu, L.M. Boon, R.M. Candido Sandri, I. Gicquel, A. Bygum, Thomas Haaf, M. Vikkula, Lizeth Martínez-Jacobo, Martin Poot, E. Burgdörfer, J. Tantau, C. Dubourg, N. Corsten-Janssen, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, H. Dornelles-Wawruk, Ana Cristina Victorino Krepischi, L.A. Ribeiro-Bicudo, C. van der Vleuten, M. Beri, P. Loget, P. Marcorelles, O. Bartsch, J.E. Chernos, S. Jaillard, S. Odent, C. Saucedo-Carrasco, A. Richieri-Costa, Carlos Córdova-Fletes, L. Ratié, Carla Rosenberg, F. Démurger, A. Ghalamkarpour, T. Dijkhuizen, C. Evain, J.P. van Tintelen, C.M.A. van Ravenswaaij-Arts, N. Chassaing, A. Irrthum, Aline Pic-Taylor, H.L. Nguyen, C. de Campos Legnaro, Rocio Ortiz-Lopez, M.S. Connelly, P. Brouillard, J.P.H. Wyse, C. Quelin, Fernando Rivas, A. Mendola, E. Fastré, U. Zechner, Iris Ferrari, D. Martin-Coignard, M.J. Schlögel, C. Fagerberg, H.P.N. Safatle, V. Dupé, D. Weise, R.B. Lowry, S. Mercier, I. Quere, B.F. Gamba, J. Lespinasse, M. Korenkov

Publikováno v: Molecular Syndromology. 4:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39e58559fdb767099a266176e06a754a
https://doi.org/10.1159/000347016

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The prevalence of chromosomal abnormalities in subgroups of infertile men

Autor: Jolande A. Land, E. C. Dul, Henk Groen, T. Dijkhuizen, van Conny Ravenswaaij-Arts, J. van Echten-Arends

Publikováno v: Human Reproduction, 27(1), 36-43. Oxford University Press

BACKGROUND: The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d51c8ef37ad31a9a2a1b94f82986e37
https://pubmed.ncbi.nlm.nih.gov/22883799

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An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Autor: N. de Leeuw, Y. E. M. Thomasse, D. Olde Weghuis, G. J. van den Hoek, Carlo M. Marcelis, Joke B. G. M. Verheij, R. S. Rijlaarsdam, van Conny Ravenswaaij-Arts, S. A. de Munnik, Frederik G. Dikkers, T. Dijkhuizen

Publikováno v: European Journal of Medical Genetics, 52, 5, pp. 353-7
European Journal of Medical Genetics, 52, 353-7
European journal of medical genetics, 52(5), 353-357. ELSEVIER SCIENCE BV

Contains fulltext : 79985.pdf (Publisher’s version ) (Closed access) Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7f507bd03758b2a74e86d423622c89
https://pubmed.ncbi.nlm.nih.gov/19464398

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