Research output per year
Research output per year
- 1 - 50 out of 113 results
Search results
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2025
Clinical and Genetic Findings in Patients with Palmoplantar Keratoderma
Gram, S. B., Brusgaard, K., Lei, U., Sommerlund, M., Vinding, G. R., Sleire, S. O. K., Christensen, A. H., Fast, S. P., Bach, R., Bygum, A. & Ousager, L. B., Feb 2025, In: JAMA Dermatology. 161, 2, p. 157-166 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1
Blechingberg, J., Terkelsen, T., Jensen, U. B., Rønholt, K., Sommerlund, M., Vinter, H. & Graversen, L., Mar 2025, In: American Journal of Medical Genetics - Part A. 197, 3, p. e63933 e63933.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Kontaktallergener
Translated title of the contribution :Contact allergens Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
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2024
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Herlin, L. K., Herlin, M. K., Blechingberg, J., Rønholt, K., Graversen, L., Schmidt, S. A. J., Jørgensen, M. W., Hellfritzsch, M. B., Hald, J. D., Beck-Nielsen, S. S., Gjørup, H., Andersen, B. N., Gregersen, P. A. & Sommerlund, M., Jun 2024, In: European Journal of Medical Genetics. 69, 8 p., 104937.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Demographics, characteristics and medical treatment among adults with hand eczema in Denmark. A cross-sectional validation and registry-based study
Christensen, M. O., Yüksel, Y. T., Vittrup, I., Nymand, L. K., Thein, D., Nørreslet, L. B., Toft-Hansen, J. M., Janstrup, A. K., Zachariae, C., Sommerlund, M., Bregnhøj, A., Egeberg, A., Agner, T., Thomsen, S. F. & Thyssen, J. P., Apr 2024, In: Contact Dermatitis. 90, 4, p. 350-364 15 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access2 Citations (Scopus) -
Eczema herpeticum
Translated title of the contribution :Not Available Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
Geilswijk, M., Genuardi, M., Woodward, E. R., Nightingale, K., Huber, J., Madsen, M. G., Liekelema-van der Heij, D., Lisseman, I., Marlé-Ballangé, J., McCarthy, C., Menko, F. H., Moorselaar, R. J. A. V., Radzikowska, E., Richard, S., Rajan, N., Sommerlund, M., Wetscherek, M. T. A., Di Donato, N., Maher, E. R. & Brunet, J., Dec 2024, In: European Journal of Human Genetics. 32, 12, p. 1542-1550 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open Access10 Citations (Scopus) -
Hand eczema and changes in the skin microbiome after 2 weeks of topical corticosteroid treatment
Nørreslet, L. B., Ingham, A. C., Agner, T., Olesen, C. M., Bregnhøj, A., Sommerlund, M., Andersen, P. S., Stegger, M., Mørtz, C. G. & Edslev, S. M., 3 Oct 2024, (E-pub / Early view) In: Journal of the European Academy of Dermatology and Venereology : JEADV.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
Graversen, L., Sommerlund, M., Kruse, C., Gjørup, H., Gregersen, P. A., Jensen, U. B. & Blechingberg, J., Dec 2024, In: European Journal of Medical Genetics. 72, 104982.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Kontakteksem hos børn
Translated title of the contribution :Contact dermatitis in children Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open Access -
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections
Herlin, L. K., Sørensen, S. B., Graakjaer, J. A., Andersen, S., Schmidt, S. A. J., Sommerlund, M. & Mogensen, T. H., Aug 2024, In: Journal of Clinical Immunology. 44, 6, p. 136 136.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
2 Citations (Scopus) -
Occupational exposure to epoxy components and risk of dermatitis: A registry-based follow-up study of the wind turbine industry
Christiansen, A. G., Kinnerup, M. B., Carstensen, O., Sommerlund, M., Clausen, P. A., Bønløkke, J. H., Schlünssen, V., Isaksson, M., Schmidt, S. A. J. & Kolstad, H. A., Jan 2024, In: Contact Dermatitis. 90, 1, p. 32-40 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report
Herlin, L. K., Herlin, M. K., Vinter, H., Blechingberg, J., Andersen, B. N., Kruse, C. & Sommerlund, M., 1 Nov 2024, In: Pediatric Dermatology. 41, 6, p. 1106-1113 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study
Herlin, L. K., Schmidt, S. A. J., Mogensen, T. H. & Sommerlund, M., 2 Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, p. 454 454.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
Herlin, L. K., Schmidt, S. A. J., Hermann, X. B., Rønholt, K., Bygum, A., Schuster, A., Lei, U., Mogensen, M., Vinding, G. R., Djursby, M., Hove, H., Blechingberg, J., Graversen, L., Mogensen, T. H., Gjørup, H., Langan, S. M. & Sommerlund, M., May 2024, In: JAMA Dermatology. 160, 5, p. 502-510 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
4 Citations (Scopus) -
Prevalence and Patient Characteristics of Pachyonychia Congenita
Andersen, S. R., Herlin, L. K., Schmidt, S. A. J. & Sommerlund, M., 18 Dec 2024, In: JAMA Dermatology. 160, 12, p. 1364-1366 3 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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2023
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene
Krarup, N. T., Hvidbjerg, M., Zaremba, T., Sommerlund, M. & Christensen, M. K., Apr 2023, In: American Journal of Medical Genetics - Part A. 191, 4, p. 1059-1064 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
5 Citations (Scopus) -
2022
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant
Nielsen, T., Herlin, M. K., Linnet, K. M., Beniczky, S., Sommerlund, M., Granild-Jensen, J. B. & Gregersen, P. A., Mar 2022, In: European Journal of Medical Genetics. 65, 3, 5 p., 104444.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile5 Citations (Scopus)31 Downloads (Pure) -
Contact dermatitis in children caused by diabetes devices
Alves da Silva, C., Bregnhøj, A., Mowitz, M., Bruze, M., Andersen, K. E. & Sommerlund, M., Nov 2022, In: Contact Dermatitis. 87, 5, p. 406-413 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
9 Citations (Scopus) -
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Jensen, J. M., Skakkebæk, A., Gaustadness, M., Sommerlund, M., Gjørup, H., Ljungmann, K., Lautrup, C. K. & Sunde, L., Jul 2022, In: Familial Cancer. 21, 3, p. 325-332 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
9 Citations (Scopus) -
Margaritas in the sun
Sommerlund, M. & Uhrenholt, R. N., Oct 2022, In: Ugeskrift for Læger. 184, 40, p. 2354-2359 2 p., V71133.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile38 Downloads (Pure) -
Occupational allergic contact dermatitis caused by tetrahydroxypropyl ethylenediamine in hand disinfectants
Blomberg, M., Jørgensen, C. C. L., Bregnhøj, A., Ahrensbøll-Friis, U., Zachariae, C., Sommerlund, M. & Johansen, J. D., Jul 2022, In: Contact Dermatitis. 87, 1, p. 114-116 3 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
6 Citations (Scopus) -
Prevalence of skin sensitization and dermatitis among epoxy-exposed workers in the wind turbine industry
Christiansen, A. G., Carstensen, O., Sommerlund, M., Clausen, P. A., Bønløkke, J. H., Schlünssen, V., Isaksson, M., Schmidt, S. A. J. & Kolstad, H. A., Dec 2022, In: British Journal of Dermatology. 187, 6, p. 988-996 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access5 Citations (Scopus) -
Topical corticosteroids reduce the density of Staphylococcus aureus in hand eczema
Nørreslet, L. B., Edslev, S. M., Bregnhøj, A., Sommerlund, M., Ebbehøj, N. E., Andersen, P. S. & Agner, T., Apr 2022, In: Journal of the European Academy of Dermatology and Venereology : JEADV. 36, 4, p. E318-E319 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Letter › peer-review
2 Citations (Scopus) -
2021
Aquagenic wrinkling of the palms er en sjælden hudlidelse associeret til cystisk fibrose
Translated title of the contribution :Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
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Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis
Frølunde, A. S., Graversen, L., Pallesen, K. A. U. & Sommerlund, M., 10 May 2021, In: Ugeskrift for Læger. 183, 19Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
1 Citation (Scopus) -
Incontinentia pigmenti hos en nyfødt dreng
Translated title of the contribution :Incontinentia pigmenti in a newborn boy Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Incontinentia pigmenti in a newborn boy
Bergmann, K., Gregersen, P. A., Graakjær, J., Tareen, A. & Sommerlund, M., 21 Jun 2021, In: Ugeskrift for Læger. 183, 25Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Occupational allergic contact dermatitis to 4,4-methylenebis(cyclohexylisocyanate)
Hansen, M. L., Sommerlund, M., Isaksson, M. & Kolstad, H. A., Oct 2021, In: Contact Dermatitis. 85, 4, p. 469-470 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Validity of first-time diagnoses of Darier’s disease in the Danish national patient registry
Dorf, I. L. H., Schmidt, S. A. J., Sommerlund, M. & Koppelhus, U., Nov 2021, In: Clinical epidemiology. 13, p. 1063-1069 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access3 Citations (Scopus) -
2020
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency
Faergeman, S. L., Evans, H., Attfield, K. E., Desel, C., Kuttikkatte, S. B., Sommerlund, M., Jensen, L. T., Frokiaer, J., Friese, M. A., Matthews, P. M., Luchtenborg, C., Brügger, B., Oturai, A. B., Dendrou, C. A. & Fugger, L., May 2020, In: Cell Death and Disease. 11, 303.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access19 Citations (Scopus) -
Ichthyosis vulgaris
Translated title of the contribution :I chthyosis vulgaris Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Idiopathic hypereosinophilic syndrome: A rare diagnosis in children
Pallesen, K. A. U., Herlin, T., Holm, M., Høst, C., Christiansen, M., Ramsing, M., Rasmussen, M. K. & Sommerlund, M., Oct 2020, In: Clinical Case Reports. 8, 10, p. 2013-2016 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access4 Citations (Scopus) -
Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts
Murrell, D. F., Lucky, A. W., Salas-Alanis, J. C., Woodley, D. T., Palisson, F., Natsuga, K., Nikolic, M., Ramirez-Quizon, M., Paller, A. S., Lara-Corrales, I., Barzegar, M. A., Sprecher, E., Has, C., Laimer, M., Bruckner, A. L., Bilgic, A., Nanda, A., Purvis, D., Hovnanian, A. & Murat-Sušić, S. & 24 others, , Oct 2020, In: Journal of the American Academy of Dermatology. 83, 4, p. 1222-1224Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access8 Citations (Scopus) -
Pustular allergic contact dermatitis caused by a sunscreen
Tracz, E. S., Sommerlund, M. & Bregnhøj, A., Oct 2020, In: Contact Dermatitis. 83, 4, p. 328-329 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
8 Citations (Scopus) -
Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry
Kristensen, M. H., Schmidt, S. A. J., Kibsgaard, L., Hove, H., Sommerlund, M. & Koppelhus, U., 2020, In: Clinical epidemiology. 12, p. 651-657 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access4 Citations (Scopus) -
2019
Udredning, opfølgning og behandling af tuberøs sklerose-kompleks
Translated title of the contribution :Diagnosis, monitoring and treatment of tuberous sclerosis complex Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry
Kristensen, M. H., Schmidt, S. A. J., Kibsgaard, L., Mogensen, M., Sommerlund, M. & Koppelhus, U., 2019, In: Clinical epidemiology. 11, p. 115-124 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
10 Citations (Scopus) -
2018
Allergisk kontakteksem udløst af curcuminholdig klorhexidinsprit
Translated title of the contribution :Allergic contact dermatitis caused by curcumin-containing chlorhexidine Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
2 Citations (Scopus) -
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature
Geilswijk, M., Bendstrup, E., Madsen, M. G., Sommerlund, M. & Skytte, A.-B., May 2018, In: Molecular Genetics & Genomic Medicine. 6, 3, p. 332-338 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
15 Citations (Scopus) -
Children with atopic dermatitis may have unacknowledged contact allergies contributing to their skin symptoms
Simonsen, A. B., Johansen, J. D., Deleuran, M., Mortz, C. G., Skov, L. & Sommerlund, M., Mar 2018, In: Journal of the European Academy of Dermatology & Venereology. 32, 3, p. 428-436 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
28 Citations (Scopus) -
Contact allergy in Danish children: Current trends
Simonsen, A. B., Foss-Skiftesvik, M. H., Thyssen, J. P., Deleuran, M., Mortz, C. G., Zachariae, C., Skov, L., Osterballe, M., Funding, A., Avnstorp, C., Andersen, B. L., Vissing, S., Danielsen, A., Dufour, N., Nielsen, N. H., Thormann, H., Sommerlund, M. & Johansen, J. D., Nov 2018, In: Contact Dermatitis. 79, 5, p. 295-302 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
32 Citations (Scopus) -
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]
Møller, L. B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B., Dec 2018, In: Molecular Genetics and Metabolism. 125, 4, p. 361-361 1 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
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Dyskeratosis follicularis
Translated title of the contribution :Dyskeratosis follicularis Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
2 Citations (Scopus) -
Nyfødt med aplasia cutis forårsaget af epidermolysis bullosa
Translated title of the contribution :Newborn with aplasia cutis caused by epidermolysis bullosa Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis
Schøsler, L., Andersen, L. K., Arendrup, M. C. & Sommerlund, M., Mar 2018, In: Pediatric Dermatology. 35, 2, p. 259-260 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
46 Citations (Scopus) -
2017
A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum
Wilhjelm, J. K., Sommerlund, M., Andersen, G. & Andersen, N. H., Feb 2017, In: Acta Cardiologica. 72, 1, p. 77-78 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Birt-Hogg-Dubé syndrome: a case report and a review of the literature
Jensen, D. K., Villumsen, A., Skytte, A.-B., Madsen, M. G., Sommerlund, M. & Bendstrup, E., 2017, In: European Clinical Respiratory Journal. 4, 1, 9 p., 1292378.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
23 Citations (Scopus) -
Contact allergy in children with atopic dermatitis: a systematic review
Simonsen, A. B., Johansen, J. D., Deleuran, M., Mortz, C. G. & Sommerlund, M., Aug 2017, In: British Journal of Dermatology. 177, 2, p. 395-405 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
64 Citations (Scopus) -
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex
Møller, L. B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B., Apr 2017, In: Molecular Genetics and Metabolism. 120, 4, p. 384-391 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
5 Citations (Scopus)