Maria C Bolling
Overview
Explore the profile of Maria C Bolling including associated specialties, affiliations and a list of published articles.
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Articles
39
Citations
259
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Recent Articles
11.
Schrader N, Duipmans J, Renken R, Soros P, Vermeulen K, Bolling M, et al.
PLoS One
. 2022 Dec;
17(12):e0277512.
PMID: 36508401
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...
12.
van de Beek I, Glykofridis I, Oosterwijk J, van den Akker P, Diercks G, Bolling M, et al.
Hum Mol Genet
. 2022 Nov;
32(7):1223-1235.
PMID: 36440963
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a novel hereditary disorder in a family with skin...
13.
Vermeer M, Andrei D, Marsili L, van Tintelen J, Sillje H, van den Berg M, et al.
Int J Mol Sci
. 2022 Sep;
23(18).
PMID: 36142674
Genetic variants in gene-encoding proteins involved in cell−cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous...
14.
van den Akker P, Bolling M, Pasmooij A
Biomedicines
. 2022 Sep;
10(9).
PMID: 36140224
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...
15.
Vermeer M, Al-Shinnag M, Sillje H, Esquivel Gaytan A, Murrell D, McGaughran J, et al.
Br J Dermatol
. 2022 Aug;
187(6):1045-1048.
PMID: 35975634
This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely...
16.
Baardman R, Bolling M
Br J Dermatol
. 2022 May;
186(5):765-766.
PMID: 35501939
No abstract available.
17.
Vermeer M, Andrei D, Kramer D, Nijenhuis A, Hoedemaekers Y, Westers H, et al.
Exp Dermatol
. 2022 Mar;
31(6):970-979.
PMID: 35325485
Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with...
18.
The positive impact of rituximab on the quality of life and mental health in patients with pemphigus
Rashid H, Poelhekken M, Meijer J, Bolling M, Horvath B
JAAD Int
. 2022 Mar;
7:31-33.
PMID: 35252887
No abstract available.
19.
Bolling M, Has C, Bruckner A
JAMA Dermatol
. 2022 Mar;
158(4):356-358.
PMID: 35234816
No abstract available.
20.
Vermeer M, Sillje H, Pas H, Andrei D, van der Meer P, Bolling M
J Invest Dermatol
. 2022 Jan;
142(8):2271-2274.e6.
PMID: 35031308
No abstract available.