Sirkku Peltonen
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Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in
Sweden
Theofanis Zagoras, Rahime Inci, Despoina Kantere, Peter Holmström, Jenny Broström, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
Acta Dermato-Venereologica - 2023 -
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63
variant
K. Helenius, L. Ojala, L. Kainulainen, Sirkku Peltonen, M. Hietala, P. Pohjola, V. Parikka
European Journal of Medical Genetics - 2023 -
Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and
melanoma
Rahime Inci, T. Zagoras, Despoina Kantere, Peter Holmstrom, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
Journal of the European Academy of Dermatology and Venereology - 2023 -
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type
1
C. Carton, D. G. Evans, I. Blanco, R. E. Friedrich, R. E. Ferner, S. Farschtschi, H. Salvador, A. A. Azizi, V. Mautner, C. Rohl, Sirkku Peltonen, S. Stivaros, E. Legius, R. Oostenbrink
Eclinicalmedicine - 2023 -
Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson's
disease
D. Flinkman, Y. Hong, J. Gnjatovic, P. Deshpande, Z. Ortutay, Sirkku Peltonen, V. Kaasinen, P. James, E. Coffey
Npj Parkinsons Disease - 2023 -
Mast Cells in Human Cutaneous Neurofibromas: Density, Subtypes, and Association with Clinical Features in Neurofibromatosis
1
R. A. Kallionpaa, K. Ahramo, E. Martikkala, E. Fazeli, P. Haapaniemi, A. Rokka, I. Leivo, I. T. Harvima, J. Peltonen, Sirkku Peltonen
Dermatology - 2022 -
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient
experience.
Sirkku Peltonen, Arnaud Jannic, Pierre Wolkenstein
European journal of medical genetics - 2022 -
Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic
dermatitis
Eeva Sliz, Laura Huilaja, Anu Pasanen, Triin Laisk, Ene Reimann, Reedik Mägi, Katariina Hannula-Jouppi, Sirkku Peltonen, Teea Salmi, Leena Koulu, Kaisa Tasanen, Johannes Kettunen
Journal of Allergy and Clinical Immunology - 2021 -
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from
Finland.
Edvard Johansson, Roope A Kallionpää, Petri Böckerman, Sirkku Peltonen, Juha Peltonen
Genetics in medicine : official journal of the American College of Medical Genetics - 2021 -
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus
recommendation
E. Legius, L. Messiaen, P. Wolkenstein, P. Pancza, R. A. Avery, Y. Berman, J. Blakeley, D. Babovic-Vuksanovic, K. S. Cunha, R. Ferner, M. J. Fisher, J. M. Friedman, D. H. Gutmann, H. Kehrer-Sawatzki, B. R. Korf, V. F. Mautner, Sirkku Peltonen, K. A. Rauen, V. Riccardi, E. Schorry, A. Stemmer-Rachamimov, D. A. Stevenson, G. Tadini, N. J. Ullrich, D. Viskochil, K. Wimmer, K. Yohay, S. M. Huson, D. G. Evans, S. R. Plotkin
Genetics in Medicine - 2021 -
Increased risk for dementia in neurofibromatosis type
1
R. A. Kallionpaa, M. Valtanen, K. Auranen, E. Uusitalo, J. O. Rinne, Sirkku Peltonen, J. Peltonen
Genetics in Medicine - 2021 -
Signaling pathways in human osteoclasts differentiation: ERK1/2 as a key
player
P. Pennanen, R. A. Kallionpaa, Sirkku Peltonen, L. Nissinen, V. M. Kahari, E. Heerva, J. Peltonen
Molecular Biology Reports - 2021 -
Circulating free DNA in the plasma of individuals with neurofibromatosis type
1
R. A. Kallionpaa, K. Ahramo, M. Aaltonen, P. Pennanen, J. Peltonen, Sirkku Peltonen
American Journal of Medical Genetics Part A - 2021 -
A rare disease and education: Neurofibromatosis type 1 decreases educational
attainment.
Edvard Johansson, Roope A Kallionpää, Petri Böckerman, Juha Peltonen, Sirkku Peltonen
Clinical genetics - 2021 -
Celebrating the 50th Anniversary of
ESDR.
Sirkku Peltonen, Sabine A Eming, Christopher E M Griffiths, Márta Széll, David Kelsell, Menno Alexander De Rie
The Journal of investigative dermatology - 2020