Výsledky vyhledávání - "Martin A. Haagmans"

Correction for van der Putten et al., 'Five Complete Genome Sequences Spanning the Dutch Streptococcus suis Serotype 2 and Serotype 9 Populations'

Autor: Boas C. L. van der Putten, Thomas J. Roodsant, Martin A. Haagmans, Constance Schultsz, Kees C. H. van der Ark

Publikováno v: Microbiology Resource Announcements. 11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5173fccb516cf9fd85f649e554f33ab3
https://doi.org/10.1128/mra.00951-22

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Five complete genome sequences spanning the dutch streptococcus suis Serotype 2 and Serotype 9 populations

Autor: Constance Schultsz, Boas C. L. van der Putten, Thomas J. Roodsant, Kees C. H. van der Ark, Martin A. Haagmans

Publikováno v: Microbiology Resource Announcements, 9(6):e01439-19. American Society for Microbiology
Microbiology Resource Announcements

The zoonotic pathogen Streptococcus suis can cause septicemia and meningitis in humans. We report five complete genomes of Streptococcus suis serotype 2 and serotype 9, covering the complete phylogeny of serotype 9 Dutch porcine isolates and zoonotic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f79c1451b23e5b4d77ea96874d5db67
https://doi.org/10.1128/mra.01439-19

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RELN rare variants in myoclonus-dystonia

Autor: Raoul C.M. Hennekam, Sandra M. A. van der Salm, Katja Ritz, Justus L. Groen, Martin A. Haagmans, Marina A. J. Tijssen, Frank Baas, Hamid Jalalzadeh, Aldo Jongejan, Aeilko H. Zwinderman, M. Mahdi Motazacker, Olaf R.F. Mook

Publikováno v: Movement Disorders, 30(3), 415-419. Wiley
Movement disorders, 30(3), 415-419. John Wiley and Sons Inc.

BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b5f67130ed48c5f1121bd8abdc416e
https://research.rug.nl/en/publications/a2ac63d2-c644-4c30-a8bb-9f358b6de5b9

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Autor: Hamid Jalalzadeh, Marina A. J. Tijssen, Arturo Andrade, Justus L. Groen, Frank Baas, Ted E.J. Bradley, Sylvia Denome, Katja Ritz, Peter Nürnberg, Dineke S. Verbeek, Aldo Jongejan, Martin A. Haagmans, Raoul C.M. Hennekam, Diane Lipscombe

Publikováno v: Human Molecular Genetics, 24(4), 987-993
Human molecular genetics, 24(4), 987-993. Oxford University Press
Human Molecular Genetics, 24(4), 987-993. Oxford University Press

Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonusdystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852ab3144befcc784eb9666c9e17ba4e
https://doi.org/10.1093/hmg/ddu513

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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Autor: Marielle Alders, Isabelle Cordeiro, Beyhan Tüysüz, Bruno Dallapiccola, Livia Garavelli, Lihadh Al-Gazali, Olaf R.F. Mook, Faranak Salehi, Charles B. L. M. Majoie, Martin A. Haagmans, Raoul C.M. Hennekam, Marcel M.A.M. Mannens

Publikováno v: Human genetics, 133(9), 1161-1167. Springer Verlag

The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e750d0cce59dce987059155ba3bce5
https://doi.org/10.1007/s00439-014-1456-y

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Autor: Frank Baas, Martin A. Haagmans, Ronald H. Lekanne Deprez, Judith B.A. van de Meerakker, Imke Christiaans, Nynke Hofman, Jean-François Soucy, Marja E. Jakobs, Olaf R.F. Mook, Marcel M.A.M. Mannens

Publikováno v: Journal of medical genetics, 50(9), 614-626. BMJ Publishing Group
Journal of Medical Genetics

Background Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype–phenotype correlations have been found so far. In the past, genetic evaluation for hypertrophic (HCM) and dilated (DCM) cardiomyo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0c388e72fb849323fdec9aa486956d
https://doi.org/10.1136/jmedgenet-2012-101231

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Cow's milk allergy in Dutch children: an epigenetic pilot survey

Autor: Martin A. Haagmans, Adri Mul, Peter Henneman, Raoul C.M. Hennekam, Olaf R.F. Mook, Andrea Venema, Femke van Sinderen, Nicole C. M. Petrus, Marcel M.A.M. Mannens, Aline B. Sprikkelman

Publikováno v: Clinical and translational allergy, 6. BioMed Central
Clinical and Translational Allergy

Background Cow’s milk allergy (CMA) is a common disease in infancy. Early environmental factors are likely to contribute to CMA. It is known that epigenetic gene regulation can be altered by environmental factors. We have set up a proof of concept

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f027d4d0fa8535950e7b051f4e9147de
https://doi.org/10.1186/s13601-016-0105-z

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