Výsledky vyhledávání - "Steenbeek, F. G."

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Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations

Publikováno v: Clinical Epigenetics, 13(1):61. BioMed Central Ltd.
Clinical epigenetics, 13(1):61. Springer Verlag
Pei, J, Schuldt, M, Nagyova, E, Gu, Z, el Bouhaddani, S, Yiangou, L, Jansen, M, Calis, J J A, Dorsch, L M, Blok, C S, van den Dungen, N A M, Lansu, N, Boukens, B J, Efimov, I R, Michels, M, Verhaar, M C, de Weger, R, Vink, A, van Steenbeek, F G, Baas, A F, Davis, R P, Uh, H W, Kuster, D W D, Cheng, C, Mokry, M, van der Velden, J, Asselbergs, F W & Harakalova, M 2021, ' Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations ', Clinical epigenetics, vol. 13, no. 1, 61 . https://doi.org/10.1186/s13148-021-01043-3
Clinical Epigenetics
Clinical Epigenetics, 13(1), 1. BioMed Central
Clinical Epigenetics, 13(1). BMC

Background Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the cardiac muscle, frequently caused by mutations in MYBPC3. However, little is known about the upstream pathways and key regulators causing the disease. Therefore, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48513be4255f80671f2b51e974fc2314
https://pure.eur.nl/en/publications/a2126346-ea8a-4e36-ba69-e93fb8de9a58

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A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

Autor: Mandigers, P J J, Van Steenbeek, F G, Bergmann, W, Vos-Loohuis, M, Leegwater, P A, CS_Genetics, Interne geneeskunde GD, Dep Clinical Sciences, dCSCA AVR, Dep Pathobiologie, VPDC pathologie, dPB CR, dCSCA RMSC-1

Publikováno v: Human Genetics, 140(11), 1547. Springer Verlag
Human Genetics

A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0886366bbe0ceb9968728e447edd0dad
https://dspace.library.uu.nl/handle/1874/418748

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Population genetic analysis and genome-wide association study of patellar luxation in a Thai population of Pomeranian dogs

Autor: Wangdee, C, Leegwater, P A J, Heuven, H C M, van Steenbeek, F G, Techakumphu, M, Hazewinkel, H A W, CSCA AVM, CSCA TR1, dCSCA RMSC-1, dCSCA AVR

Publikováno v: Research in Veterinary Science, 111, 9-13
Research in Veterinary Science, 111, 9. Elsevier
Research in Veterinary Science 111 (2017)

The genetics of patellar luxation (PL) were investigated in Pomeranian dogs presented at the Small Animal Hospital, Faculty of Veterinary Science, Chulalongkorn University. A cohort of 339 Pomeranian dogs, part of a four-generation pedigree of 842 Po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935c05920143e153a0184d256b4036ab
https://doi.org/10.1016/j.rvsc.2016.11.006

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Quantification of the health-status of the Dutch Labrador retriever population

Autor: Keijser, S F A, Vernooij, J C M, van Garderen, E, van Rooijen, P, Fieten, H, van Steenbeek, F G, Hesselink, J W, Nielen, M, Onderzoek, LS Theoretische Epidemiologie, dFAH AVR, LS Interne geneeskunde, dCSCA RMSC-1, dCSCA AVR, Zorgfaciliteiten leiding, dCSCA RMSC-2, LS Evidence Based Vet Medicine

Publikováno v: Preventive Veterinary Medicine, 171. Elsevier

Health issues in purebred dogs are currently considered one of the biggest problems in companion animal health. The Labrador retriever (LR) is one of the most popular dog breeds. The aim of this study was to quantify LR breed health in comparison wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c54e65caf8e119e86216de3d791c03
https://doi.org/10.1016/j.prevetmed.2019.104764

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Akademický článek

The canine era: the rise of a biomedical model.

Autor: Steenbeek, F. G.¹ f.g.vansteenbeek@uu.nl, Hytönen, M. K.², Leegwater, P. A. J.¹, Lohi, H.²

Publikováno v: Animal Genetics. Oct2016, Vol. 47 Issue 5, p519-527. 9p.

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DNA panel screening as a potential tool to monitor health and inbreeding in a small, closed dog population

Autor: Keijser, S F A, Fieten, H, Vos-Loohuis, M, Piek, C J, Anderson, H, Donner, J, Scholten, I, Nielen, M, Hesselink, J W, van Steenbeek, F G

Background: Selective breeding in populations with a limited effective population size may result in a loss of genetic diversity, which can cause an increased concentration of specific disease liability genes. The Dutch Shepherd Dog (DSD) in the Neth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______101::4f4507ead69986e239a271e2935eb384
https://dspace.library.uu.nl/handle/1874/376610

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