Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Maria C Bolling"'
Autor:
Nicholas H B Schräder, José C Duipmans, Remco J Renken, Peter Sörös, Karin M Vermeulen, Maria C Bolling, André P Wolff
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0277512 (2022)
Patients with the genetic blistering skin condition epidermolysis bullosa (EB) report severe pain as a consequence of skin and mucous membrane lesions including blisters, wounds, and scars. Adequate symptom alleviation is not often achieved using con
Externí odkaz:
https://doaj.org/article/c204ae928a214fd39b7094cafaffe368
The positive impact of rituximab on the quality of life and mental health in patients with pemphigus
Autor:
Hanan Rashid, MD, Mila Poelhekken, MD, Joost M. Meijer, MD, PhD, Maria C. Bolling, MD, PhD, Barbara Horváth, MD, PhD
Publikováno v:
JAAD International, Vol 7, Iss , Pp 31-33 (2022)
Externí odkaz:
https://doaj.org/article/e469d5246dc64f6a940991b4c24f38fb
Autor:
Hanan Rashid, MD, J. Marja Oldhoff, MD, PhD, Martha Esajas, MD, Gilles F.H. Diercks, MD, PhD, Hendri H. Pas, PhD, Maria C. Bolling, MD, PhD, Barbara Horváth, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 13, Iss , Pp 75-80 (2021)
Externí odkaz:
https://doaj.org/article/163499c3074f43d9bb665afb3bd37594
Autor:
Rosalie Baardman, MD, Barbara Horváth, MD, PhD, Maria C. Bolling, MD, PhD, Hendri H. Pas, PhD, Gilles F.H. Diercks, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 6, Iss 6, Pp 518-520 (2020)
Externí odkaz:
https://doaj.org/article/c3a8e6dfc0ac4589b23e79cd65d16f9c
Publikováno v:
Biomedicines, Vol 10, Iss 9, p 2118 (2022)
Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phen
Externí odkaz:
https://doaj.org/article/8374ccc4e3694205a936d532872616e9
Autor:
Hanna Breet, Yvonne J. Vos, Trijnie Dijkhuizen, Carlijn L. Voorbij‐Vierstra, Maria C. Bolling, Peter C. van den Akker
Publikováno v:
American Journal of Medical Genetics, Part A, 896-898. Wiley
STARTPAGE=896;ENDPAGE=898;ISSN=1552-4825;TITLE=American Journal of Medical Genetics, Part A
STARTPAGE=896;ENDPAGE=898;ISSN=1552-4825;TITLE=American Journal of Medical Genetics, Part A
Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporadic cases ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0eb9170704795931128f0dd9998b06b
https://doi.org/10.1002/ajmg.a.63086
https://doi.org/10.1002/ajmg.a.63086
Autor:
Hanan Rashid, Joost M. Meijer, Maria C. Bolling, Gilles F.H. Diercks, Hendri H. Pas, Barbara Horváth
Publikováno v:
Journal of the American Academy of Dermatology, 87(1), 48-55. MOSBY-ELSEVIER
The variable clinical severity of mucous membrane pemphigoid (MMP) often leads to diagnostic and therapeutic delays.To describe the characteristics of a large cohort of patients with MMP.A retrospective review of clinical and diagnostic characteristi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fdf5396d16124c9700addebc2c6d808
https://doi.org/10.1016/j.jaad.2021.11.061
https://doi.org/10.1016/j.jaad.2021.11.061
Autor:
Mathilde C.S.C. Vermeer, Karla F. Arevalo Gomez, Martijn F. Hoes, Jasper Tromp, Job A.J. Verdonschot, Michiel T.H.M. Henkens, Herman H.W. Silljé, Maria C. Bolling, Peter van der Meer
Publikováno v:
Circulation: Genomic and Precision Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52644a89a5253228c261fb3f539e5491
https://doi.org/10.1161/circgen.122.003998
https://doi.org/10.1161/circgen.122.003998
Autor:
Eva W H Korte, Tobias Welponer, Jan Kottner, Sjoukje van der Werf, Peter C van den Akker, Barbara Horváth, Dimitra Kiritsi, Martin Laimer, Anna M G Pasmooij, Verena Wally, Maria C Bolling
Publikováno v:
British Journal of Dermatology.
Background Epidermolysis bullosa (EB) is a rare, genetically and clinically heterogeneous group of skin fragility disorders. No cure is currently available, but many novel and repurposed treatments are upcoming. For adequate evaluation and comparison
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbd565d26bd94b8d9dafd4c1e6ff9c0a
https://doi.org/10.1093/bjd/ljad077
https://doi.org/10.1093/bjd/ljad077
Autor:
Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling
Publikováno v:
van de Beek, I, Glykofridis, I E, Oosterwijk, J C, van den Akker, P C, Diercks, G F H, Bolling, M C, Waisfisz, Q, Mensenkamp, A R, Balk, J A, Zwart, R, Postma, A V, Meijers-Heijboer, H E J, van Moorselaar, R J A, Wolthuis, R M F & Houweling, A C 2023, ' PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis ', Human Molecular Genetics, vol. 32, no. 7, pp. 1223-1235 . https://doi.org/10.1093/hmg/ddac288
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Contains fulltext : 291515.pdf (Publisher’s version ) (Open Access) Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bee29415900ea2982a28cc3469f7db
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
