Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Authors: Clabbers, Julia M. K., Bolling, Marieke C., Burms, Charlotte, Vreeburg, Maaike, Lemmink, Henny H., Akker, Peter C., Steijlen, Peter M., Geel, Michel, Gostyński, Antoni H.

Source: Journal of the European Academy of Dermatology and Venereology. 37(4):e486-e490

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193831133.0x000001&indx=1&recIds=ETOCvdc_100193831133.0x000001

Paraneoplastic pemphigus: A detailed case series from the Netherlands revealing atypical cases

Authors: Zaheri, Farhat, Pas, Hendri H., Bremer, Jeroen, Meijer, Joost M., Bolling, Marieke C., Horvath, Barbara, Diercks, Gilles F. H.

Source: Journal of the European Academy of Dermatology and Venereology. 37(1):147-153

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182199180.0x000001&indx=1&recIds=ETOCvdc_100182199180.0x000001

Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie

Authors: Cuperus, Edwin, Sigurdsson, Vigfús, Akker, Peter C., Bolling, Marieke C., Gijn, Mariëlle E., Pasmans, Suzanne G. M. A.

Source: Journal der Deutschen Dermatologischen Gesellschaft. 19(4):611-614

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128277546.0x000001&indx=1&recIds=ETOCvdc_100128277546.0x000001

Systematic review on antipruritic therapies for patients with Epidermolysis bullosa.

Authors: Welponer, Tobias, Puttinger, Christian, Korte, Eva W. H., van der Werf, Sjoukje, Prodinger, Christine, Bolling, Marieke C., Laimer, Martin

Source: Journal of Dermatological Treatment; Dec2024, Vol. 35 Issue 1, p1-17, 17p

Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases.

Authors: Vermeer, Franciscus C.¹ (AUTHOR), Bolling, Marieke C.² (AUTHOR), Knoers, Nine V. A. M.¹ (AUTHOR), van den Akker, Peter C.^1,2 (AUTHOR), Bremer, Jeroen² (AUTHOR) j.bremer@umcg.nl

Source: Experimental Dermatology. Feb2024, Vol. 33 Issue 2, p1-3. 3p.

Subject Terms: *RNA sequencing, *SKIN diseases, *GENETIC disorders, *XENOGRAFTS, *SCHOLARSHIPS

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

Authors: Harrs, Clara, Akker, Peter C., Baardman, Rosalie, Duipmans, José C., Horváth, Barbara, Kester, Marloes S., Lemmink, Henny H., Rácz, Emoke, Bolling, Marieke C., Diercks, Gilles F.H.

Source: British journal of dermatology. 187(5):824-826

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173627247.0x000001&indx=1&recIds=ETOCvdc_100173627247.0x000001

Angiotensin‐converting enzyme 2 (ACE2), SARS‐CoV‐2 and the pathophysiology of coronavirus disease 2019 (COVID‐19)

Authors: Bourgonje, Arno R, Abdulle, Amaal E, Timens, Wim, Hillebrands, Jan‐Luuk, Navis, Gerjan J, Gordijn, Sanne J, Bolling, Marieke C, Dijkstra, Gerard, Voors, Adriaan A, Osterhaus, Albert DME, Voort, Peter HJ, Mulder, Douwe J, Goor, Harry

Source: Journal of pathology. 251(3):228-248

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Diagnostic next generation sequencing in neonatal erythroderma

Authors: Cuperus, Edwin, Sigurdsson, Vigfús, Akker, Peter C., Bolling, Marieke C., Gijn, Mariëlle E., Pasmans, Suzanne G. M. A.

Source: Journal der Deutschen Dermatologischen Gesellschaft. 19(4):612-614

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129462047.0x000001&indx=1&recIds=ETOCvdc_100129462047.0x000001

Collodion babies: A 15-year retrospective multicenter study in The Netherlands—Evaluation of severity scores to predict the underlying disease

Authors: Cuperus, Edwin, Bolling, Marieke C., de Graaf, Marlies, van den Akker, Peter C., van Gijn, Marielle E., Simon, Marleen E.H., Sigurdsson, Vigfús, Pasmans, Suzanne G.M.A.

Source: Journal of the American Academy of Dermatology. 84(4):1111-1113

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182481135.0x000001&indx=1&recIds=ETOCvdc_100182481135.0x000001

Paraneoplastic pemphigus associated with post‐transplant lymphoproliferative disorder after small bowel transplantation.

Authors: Fidder, Sander A. R.¹ (AUTHOR) a.r.fidder@umcg.nl, Bolling, Marieke C.² (AUTHOR), Diercks, Gilles F. H.² (AUTHOR), Pas, Hendri H.² (AUTHOR), Hooimeijer, Louise H. L.³ (AUTHOR), Bungener, Laura B.⁴ (AUTHOR), Willemse, Brigitte W. M.⁵ (AUTHOR), Scheenstra, Rene¹ (AUTHOR), Stapelbroek, Janneke M.⁶ (AUTHOR), van der Doef, Hubert P. J.¹ (AUTHOR)

Source: Pediatric Transplantation. Sep2021, Vol. 25 Issue 6, p1-6. 6p.

Subject Terms: *SMALL intestine, *LYMPHOPROLIFERATIVE disorders, *PEMPHIGUS, *CASTLEMAN'S disease, *EPITHELIUM, *PROTEIN-losing enteropathy, *SHORT bowel syndrome

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients

Authors: Bolling, Marieke C., Jongbloed, Jan D.H., Boven, Ludolf G., Diercks, Gilles F.H., Smith, Frances J.D., Irwin McLean, W.H., Jonkman, Marcel F.

Source: Journal of investigative dermatology. 134(1):273-276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053524477.0x000001&indx=1&recIds=ETOCvdc_100053524477.0x000001

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

Authors: Hobbs, Ryan P., Han, Sandra Y., van der Zwaag, Paul A., Bolling, Marieke C., Jongbloed, Jan D.H., Jonkman, Marcel F., Getsios, Spiro, Paller, Amy S., Green, Kathleen J.

Source: Journal of investigative dermatology. 130(11):2680-2683

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053020419.0x000001&indx=1&recIds=ETOCvdc_100053020419.0x000001

Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study.

Authors: Schräder, Nicholas H. B., Gorell, Emily S., Stewart, Roy E., Duipmans, José C., Harris, Nicole, Perez, Victoria A., Tang, Jean Y., Wolff, André P., Bolling, Marieke C.

Source: Orphanet Journal of Rare Diseases; 9/6/2021, Vol. 16 Issue 1, p1-13, 13p

Subject Terms: EPIDERMOLYSIS bullosa, ITCHING, WOUND healing, XEROSTOMIA, CROSS-sectional method, PAIN perception, CAREGIVERS

Hypohidrose, ichtyose et hypokaliémie : le syndrome HELIX

Authors: Fertitta, Laura, Bolling, Marieke C., Davis, Philippine, Vargas, Rosa, Van Den Akker, Peter C., Bourrat, Emmanuelle, Van Geel, Michel, Knebelmann, Bertrand, Leclerc-Mercier, Stéphanie, Houillier, Pascal, Hadj-Rabia, Smail

Source: In Annales de Dermatologie et de Vénéréologie - FMC December 2021 1(8) Supplement 1:A105-A105

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Letter to the Editor: Ordering the Chaos in Cannabinoid-Related Research: Is It Time for a Task Force on Taxonomy?

Authors: Schräder, Nicholas H. B., Bolling, Marieke C., Wolff, André P.

Source: Cannabis & Cannabinoid Research; Apr2021, Vol. 6 Issue 2, p174-175, 2p

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.

Authors: Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.

Source: International Journal of Molecular Sciences; Nov2021, Vol. 22 Issue 22, p12222, 1p

Subject Terms: EPIDERMOLYSIS bullosa, GENETIC variation, SKIN grafting, PHENOTYPES, HEREDITY

Long‐term remission of Hailey–Hailey disease by Er:YAG ablative laser therapy.

Authors: Debeuf, Marie‐Eline P. H.^1,2 (AUTHOR) marieeline.debeuf@mumc.nl, Knoops, Kèvin³ (AUTHOR), López‐Iglesias, Carmen³ (AUTHOR), Lookermans, Eline^1,2 (AUTHOR), Nelemans, Patty J.⁴ (AUTHOR), Abdul Hamid, Myrurgia⁵ (AUTHOR), Geel, Michel^1,2,6 (AUTHOR), Gostynski, Antoni H.^1,2 (AUTHOR), Steijlen, Peter M.^1,2 (AUTHOR), Bolling, Marieke C.⁷ (AUTHOR), Verstraeten, Valerie L. R. M.^1,2,8 (AUTHOR)

Source: Journal of the European Academy of Dermatology & Venereology. Oct2024, p1. 8p. 5 Illustrations.

Subject Terms: *LASER therapy, *LASER ablation, *CYTOPLASMIC filaments, *LASER surgery, *DISEASE remission

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