Genetic and in vitro analysis in a large family with a PRDM10 variant and a phenotype partly resembling Birt-Hogg-Dube syndrome

Autor: van de Beek, I., Glykofridis, I. E., Waisfisz, Q., Meijers-Heijboer, H., van Steensel, M. A. M., Wolthuis, R. M. F., Houweling, A. C.

Publikováno v: van de Beek, I, Glykofridis, I E, Waisfisz, Q, Meijers-Heijboer, H, van Steensel, M A M, Wolthuis, R M F & Houweling, A C 2020, ' Genetic and in vitro analysis in a large family with a PRDM10 variant and a phenotype partly resembling Birt-Hogg-Dube syndrome ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 546-546 .
European Journal of Human Genetics, 28(SUPPL 1), 546-546. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dc3017443bfd55c3531e8fc2d703b1c7
https://research.vumc.nl/en/publications/0ea15d9a-17d9-4478-92ec-f7c0fb01be68

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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

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

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