Research output per year
Research output per year
Research output
- 17 results
Search results
-
2025
Atopic Dermatitis in Indonesian Children: Association of Toilet Seat Dermatitis With Moderate-Severe Manifestation and Low Prevalence of Loss-of-Function Filaggrin Gene Variants
Effendi, R. M. R. A., Pardo, L. M., Dwiyana, R. F., Suwarsa, O., van Geel, M., Sribudiani, Y., Nijsten, T. E. C. & Thio, H. B., 24 Mar 2025, (E-pub ahead of print) In: International journal of dermatology.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants
van Gisbergen, M. W., Rossel, S. V. J., Theunissen, T. E. J., Janssen, R., Kaseke, T., van der Smagt, J. J., Steijlen, P. M., Vreeburg, M., Gostynski, A. H. & van Geel, M., 1 Mar 2025, In: British Journal of Dermatology. 192, 3, p. 544-546 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption
Rossel, S. V. J., Reich, A., Baniel, A., Wertheim-Tysarowska, K., Frommherz, L. H., Nolberczak, D., Lesiak, A., Kwiek, B., Osipowicz, K., Bekkenk, M. W., Spruijt, L., Seyger, M. M. B., Kolt-Kaminska, M., Giehl, K., Nartbutt, J., Vreeburg, M., Steijlen, P. M., Sprecher, E., van Geel, M. & Gostynski, A. H., Jun 2025, In: Journal of the European Academy of Dermatology and Venereology. 39, 6, p. e485-e489 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
The perceived quality of life in adult patients with inherited ichthyosis: a qualitative interview study
van Veen, F. C. A. P., Rossel, S. V. J., Steijlen, P. M., Moser, A., Veldman, K., van Geel, M., Clabbers, J. M. K., van der Geugten, J. & Gostynski, A. H., 1 Mar 2025, In: British Journal of Dermatology. 192, 3, p. 553-555 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
2024
HRAS mosaicism in linear palmoplantar keratoderma
Clabbers, J. M. K., Roemen, G. M. J. M., Rajan, N., Shah, A., Woo, P., Arefi, M., Vreeburg, M., Steijlen, P. M., Gostynski, A. & van Geel, M., May 2024, In: Journal of the European Academy of Dermatology and Venereology. 38, 5, p. e382-e384 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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2023
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions
Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., van den Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., van Maarle, M. C., Vreeburg, M., Bolling, M. C., van Geel, M. & Gostynski, A., 1 Jul 2023, In: Journal of the European Academy of Dermatology and Venereology. 37, 12, p. e1405-e1409 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene
Clabbers, J. M. K., Bolling, M. C., Burms, C., Vreeburg, M., Lemmink, H. H., van den Akker, P. C., Steijlen, P. M., van Geel, M. & Gostynski, A. H., Apr 2023, In: Journal of the European Academy of Dermatology and Venereology. 37, 4, p. E486-E490 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
2022
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity
Nagtzaam, I. F., van Leersum, F. S., Kouwenberg, L. C. M., Blok, M. J., Vreeburg, M., Steijlen, P. M., Gostyński, A. & van Geel, M., Nov 2022, In: British Journal of Dermatology. 187, 5, p. 820-822 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
2021
Natural moisturizing factor as a biomarker for filaggrin mutation status in a multi-ethnic paediatric atopic dermatitis cohort
van Mierlo, M. M. F., Caspers, P. J., Jansen, M. S., Puppels, G. J., Nouwen, A. E. M., Bronner, M. B., Pardo, L. M., van Geel, M. & Pasmans, S. G. M. A., Nov 2021, In: Clinical and Experimental Allergy. 51, 11, p. 1510-1513 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation
Verkouteren, B. J. A., Cosgun, B., Vermeulen, R. J., Reinders, M. G. H. C., van Geel, M., Gille, J. J. P. & Mosterd, K., 1 Jun 2021, In: Neuro-oncology. 23, 6, p. 1035-1036 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile137 Downloads (Pure) -
2020
Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population
van Leersum, F. S., Nagtzaam, I. F., van Oosterhoud, C. N., Ghesquiere, S. A. I., Brandts, R. R. H. F. J., Gostynski, A., Steijlen, P. M. & van Geel, M., Jun 2020, In: Journal of Allergy and Clinical Immunology. 145, 6, p. 1704-1706.e2 9 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study
Cosgun, B., Reinders, M. G. H. C., van Geel, M., Steijlen, P. M., van Hout, A. F. W., Leter, E. M., van der Smagt, J. J., van Hagen, J. M., Berger, L. P. V., Kets, C. M., Wagner, A., Aalfs, C. M., Hes, F. J., van der Kolk, L. E., Gille, J. J. P. & Mosterd, K., Aug 2020, In: Journal of the American Academy of Dermatology. 83, 2, p. 604-607 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile34 Downloads (Pure) -
2019
Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease
van Leersum, F. S., Potjewijd, J., van Geel, M., Steijlen, P. M. & Vreeburg, M., 22 Jun 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 4 p., 151.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open Access -
2018
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome
Parren, L. J. M. T., Baron, J. M., Joussen, S., Marquardt, Y., Hanneken, S., van Steensel, M. A. M., Steijlen, P. M., van Geel, M. & Frank, J., Aug 2018, In: Journal of the European Academy of Dermatology and Venereology. 32, 8, p. E331-E333 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease
Nagtzaam, I. F., Peeters, V. P. M., Vreeburg, M., Wagner, A., Steijlen, P. M., van Geel, M. & van Steensel, M. A. M., 1 Mar 2018, In: British Journal of Dermatology. 178, 3, p. E202-E203 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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2016
Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects'
Nellen, R. G. L., Van Geel, M. & Huijbregts, K. M. L., Jul 2016, In: British Journal of Dermatology. 175, 1, p. 223-224Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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2014
Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma
Brinkhuizen, T., Reinders, M. G., van Geel, M., Hendriksen, A. J., Paulussen, A. D., Winnepenninckx, V. J., Keymeulen, K. B., Soetekouw, P. M. M. B., van Steensel, M. A. & Mosterd, K., 1 Jan 2014, In: Journal of the American Academy of Dermatology. 71, 5, p. 1005-1008Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review