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Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

Autor: van Steensel, M. A. M.^1,2 mvst@sder.azm.nl, Vreeburg, M.^2,3, Peels, C.¹, van Ravenswaaij-Arts, C. M.⁴, Bijlsma, E.⁵, Schrander-Stumpel, C. T.^2,3, van Geel, M.^1,2

Publikováno v: Experimental Dermatology. Sep2006, Vol. 15 Issue 9, p731-734. 4p. 4 Color Photographs, 2 Charts.

Cutaneous clues for diagnosing X-chromosomal disorders

Autor: Vreeburg, M., Sallevelt, C. E. H., Stegmann, A. P. A., van Geel, M., Detisch, Y. J. H. A., Schrander-Stumpel, C. T. R. M., van Steensel, M. A. M., Marcus-Soekarman, D.

Publikováno v: Clinical Genetics, 85(4), 328-335. Wiley

In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::02450cbba55aab67552f7139b2905d21
https://cris.maastrichtuniversity.nl/en/publications/e1cd67c2-68ac-4fa1-a31b-b5f049288634

Birt-Hogg-Dube syndrome is a novel ciliopathy

Autor: Luijten, M. N. H., Basten, S. G., Claessens, T., Vernooij, M., Scott, C. L., Janssen, R., Easton, J. A., Kamps, M. A. F., Vreeburg, M., Broers, J. L. V., van Geel, M., Menko, F. H., Harbottle, R. P., Nookala, R. K., Tee, A. R., Land, S. C., Giles, R. H., Coull, B. J., van Steensel, M. A. M.

Publikováno v: Human Molecular Genetics, 22(21), 4383-4397. Oxford University Press
Luijten, M N H, Basten, S G, Claessens, T, Vernooij, M, Scott, C L, Janssen, R, Easton, J A, Kamps, M A F, Vreeburg, M, Broers, J L V, Van Geel, M, Menko, F H, Harbottle, R P, Nookala, R K, Tee, A R, Land, S C, Giles, R H, Coull, B J & van Steensel, M A M 2013, ' Birt-Hogg-Dube syndrome is a novel ciliopathy ', Human Molecular Genetics, vol. 22, no. 21, pp. 4383-4397 . https://doi.org/10.1093/hmg/ddt288
Human Molecular Genetics; Vol 22

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4cab7ab7a3e19ff3170ef50fe45f1102
https://research.vumc.nl/en/publications/b03b0237-a0e9-4ce7-9bd9-be661f75621f

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

Autor: Vreeburg, M., van Geel, M., van den Heuij, L. G. T., Steijlen, P. M., van Steensel, M. A. M.

Publikováno v: Journal of the European Academy of Dermatology and Venereology, 25(5), 592-595. Wiley

Background Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::c1914076c771971986865a5d80c162f4
https://cris.maastrichtuniversity.nl/en/publications/3e9c45bb-9061-4fa8-b2b9-9c73527ac6d6