Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hannerieke J. M. P. Van Den Hout"'
Autor:
Hannerieke J. M. P. van den Hout, Douglas O. S. de Faria, Monica Y. Niño, Stijn L.M. in 't Groen, W.W.M. Pim Pijnappel, Atze J. Bergsma, Ans T. van der Ploeg, Marianne Hoogeveen-Westerveld
Publikováno v:
Human Mutation, 42(11), 1461-1472. Wiley-Liss Inc.
Patients with the common c.-32-13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we analyzed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19cd5c87ebdc6149559494441ca2143
https://pure.eur.nl/en/publications/593cfa8a-7978-451d-ba62-2062a18b8a95
https://pure.eur.nl/en/publications/593cfa8a-7978-451d-ba62-2062a18b8a95
Autor:
Clara Sá Miranda, Lies H. Hoefsloot, Karin Naess, Galhana M. Somers-Bolman, Ineke Labrijn-Marks, Irene Mavridou, Trijnie Dijkhuizen, Jasper J. Saris, Marianne Hoogeveen-Westerveld, Ans T. van der Ploeg, Frans W. Verheijen, Olga Amaral, Sirpa Ala-Mello, Hannerieke J. M. P. van den Hout, Dicky J. Halley, Helen Michelakakis, Stijn L.M. in 't Groen, W.W.M. Pim Pijnappel, Marloes Benjamins, M. A. Kroos
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
Collaboration from previous work institution. Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/30737479/ Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8345058af2e8178d27b294d6d11641e8
https://doi.org/10.1038/s41431-019-0348-y
https://doi.org/10.1038/s41431-019-0348-y
Autor:
Amelia Morrone, Jan J.A. van den Dorpel, Ans T. van der Ploeg, Andrea Dardis, Stijn L.M. in 't Groen, Hannerieke J. M. P. van den Hout, W.W.M. Pim Pijnappel, Bruno Bembi, Benedikt Schoser, Elisabetta Pasquini, Nadine A. M. E. van der Beek, Antonio Toscano, Atze J. Bergsma, Olimpia Musumeci, Albina Tummolo
Publikováno v:
EBioMedicine, 43, 553-561. Elsevier
Background Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9878a04cb3c29170883f7bf349136f85
https://doi.org/10.1016/j.ebiom.2019.03.048
https://doi.org/10.1016/j.ebiom.2019.03.048
Autor:
Mike, Broeders, Kasper, Smits, Busra, Goynuk, Esmee, Oussoren, Hannerieke J M P, van den Hout, Atze J, Bergsma, Ans T, van der Ploeg, W W M Pim, Pijnappel
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction of disease severity, and development of therapy. However, the effects of disease-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e5c91178b88bb91690b3dd421e4faf6
https://pubmed.ncbi.nlm.nih.gov/33209960
https://pubmed.ncbi.nlm.nih.gov/33209960
Autor:
Léon P. F. Winkel, Joep H. J. Kamphoven, Hannerieke J. M. P. Van Den Hout, Lies A. Severijnen, Pieter A. Van Doorn, Arnold J. J. Reuser, Ans T. Van Der Ploeg
Publikováno v:
Muscle & Nerve; Jun2003, Vol. 27 Issue 6, p743-751, 9p