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Page 1
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: vreeburg m. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Single-cell Atlas of Penile Cancer Reveals TP53 Mutations as a Driver of an Aggressive Phenotype, Irrespective of Human Papillomavirus Status, and Provides Clues for Treatment Personalization.
Elst L, Philips G, Vandermaesen K, Bassez A, Lodi F, Vreeburg MTA, Brouwer OR, Schepers R, Van Brussel T, Mohanty SK, Parwani AV, Spans L, Vanden Bempt I, Jacomen G, Baldewijns M, Lambrechts D, Albersen M. Elst L, et al. Among authors: vreeburg mta. Eur Urol. 2024 Aug;86(2):114-127. doi: 10.1016/j.eururo.2024.03.038. Epub 2024 Apr 26. Eur Urol. 2024. PMID: 38670879
Reply to Marco Bandini, Andrea Salonia, and Francesco Montorsi's Letter to the Editor re: Laura Elst, Manon T.A. Vreeburg, Hielke Martijn de Vries, et al. Corporal Skip Metastases in Penile Squamous Cell Carcinoma: An Unknown and Distinct Pattern of Spread with Poor Prognosis. Eur Urol Oncol. In press. https://doi.org/10.1016/j.euo.2023.09.005.
Elst L, Vreeburg MTA, Brouwer OR, Albersen M. Elst L, et al. Among authors: vreeburg mta. Eur Urol Oncol. 2024 Oct;7(5):1155. doi: 10.1016/j.euo.2024.03.004. Epub 2024 Mar 15. Eur Urol Oncol. 2024. PMID: 38493073 No abstract available.
HRAS mosaicism in linear palmoplantar keratoderma.
Clabbers JMK, Roemen GMJM, Rajan N, Shah A, Woo P, Arefi M, Vreeburg M, Steijlen PM, Gostyński A, van Geel M. Clabbers JMK, et al. Among authors: vreeburg m. J Eur Acad Dermatol Venereol. 2024 May;38(5):e382-e384. doi: 10.1111/jdv.19613. Epub 2023 Nov 10. J Eur Acad Dermatol Venereol. 2024. PMID: 37909292 No abstract available.
Corporal Skip Metastases in Penile Squamous Cell Carcinoma: An Unknown and Distinct Pattern of Spread with Poor Prognosis.
Elst L, Vreeburg MTA, de Vries HM, Vandermaesen K, Murphy T, Churchill J, Fallara G, Sanchez D, Falcone M, Garcia-Perdomo HA, Pettaway C, Hakenberg O, Johnstone P, Spiess PE, Muneer A, Sangar V, Parnham A, Ayres B, Watkin N, Brouwer OR, Albersen M. Elst L, et al. Among authors: vreeburg mta. Eur Urol Oncol. 2024 Jun;7(3):478-484. doi: 10.1016/j.euo.2023.09.005. Epub 2023 Oct 7. Eur Urol Oncol. 2024. PMID: 37813746
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 SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. Rossel SVJ, et al. Among authors: vreeburg m. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24. J Eur Acad Dermatol Venereol. 2023. PMID: 37458571 No abstract available.
58 results