Sirkku Peltonen

Characterization of Immune Cell Populations of Cutaneous Neurofibromas in Neurofibromatosis 1 (2024)

Laboratory Investigation

Kallionpää Roope A., Peltonen Sirkku, Le Kim My, Martikkala Eija, Jääskeläinen Mira, Fazeli Elnaz, Riihilä Pilvi, Haapaniemi Pekka, Rokka Anne, Salmi Marko, Leivo Ilmo, Peltonen Juha

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis (2024)

American Journal of Medical Genetics Part A

Reinhold, Vivian; Kallionpää, Roope; Valtanen, Mikko; Auranen, Kari; Syrjänen, Stina; Peltonen, Sirkku; Peltonen, Juha

(A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä )

The contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland (2023)

European Journal of Human Genetics

Kallionpää Roope A., Johansson Edvard, Böckerman Petri, Peltonen Juha, Peltonen Sirkku

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)

European Journal of Medical Genetics

Helenius Kjell, Ojala Liisa, Kainulainen Leena, Peltonen Sirkku, Hietala Marja, Pohjola Pia, Parikka Vilhelmiina

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes (2023)

Molecular Genetics and Genomic Medicine

Loponen Niina, Yla-Outinen Heli, Kallionpää Roope A., Valtanen Mikko, Auranen Kari, Järveläinen Hannu, Peltonen Sirkku, Peltonen Juha

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 (2023)

EClinicalMedicine

Carton Charlotte, Evans D.Gareth, Blanco Ignacio, Friedrich Reinhard E., Ferner Rosalie E., Farschtschi Said, Salvador Hector, Azizi Amedeo A., Mautner Victor, Röhl Claas, Peltonen Sirkku, Stivaros Stavros, Legius Eric, Oostenbrink Rianne; ERN Genturis NF1 Tumour Management Guideline Group

(Vertaisarvioitu katsausartikkeli tieteellisessä aikakauslehdessä (A2))

Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson’s disease (2023)

NPJ Parkinson's disease

Flinkman Dani, Hong Ye, Gnjatovic Jelena, Deshpande Prasannakumar, Ortutay Zsuzsanna, Peltonen Sirkku, Kaasinen Valtteri, James Peter, Coffey Eleanor

(A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä )

Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience (2022)

European Journal of Medical Genetics

Peltonen Sirkku, Jannic Arnaud, Wolkenstein Pierre

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Complement Factor D Is a Novel Biomarker and Putative Therapeutic Target in Cutaneous Squamous Cell Carcinoma (2022)

Cancers

Nezhad Pegah Rahmati, Riihilä Pilvi, Knuutila Jaakko S., Viiklepp Kristiina, Peltonen Sirkku, Kallajoki Markku, Meri Seppo, Nissinen Liisa, Kähäri Veli-Matti

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021)

Genetics in Medicine

Legius Eric, Messiaen Ludwine, Wolkenstein Pierre, Pancza Patrice, Avery Robert A, Berman Yemima, Blakeley Jaishri, Babovic-Vuksanovic Dusica, Cunha Karin Soares, Ferner Rosalie, Fisher Michael J, Friedman Jan M, Gutmann David H, Kehrer-Sawatzki Hildegard, Korf Bruce R, Mautner Victor-Felix, Peltonen Sirkku, Rauen Katherine A, Riccardi Vincent, Schorry Elizabeth, Stemmer-Rachamimov Anat, Stevenson David A, Tadini Gianluca, Ullrich Nicole J, Viskochil David, Wimmer Katharina, Yohay Kaleb, Huson Susan M, Evans D Gareth, Plotkin Scott R; International Consensus Group on Neurofibromatosis Diagnostic Criteria(I-NF-DC)

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Contact

Links

Publications

Sort by:

Characterization of Immune Cell Populations of Cutaneous Neurofibromas in Neurofibromatosis 1 (2024)

Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis (2024)

The contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland (2023)

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)

Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes (2023)

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 (2023)

Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson’s disease (2023)

Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience (2022)

Complement Factor D Is a Novel Biomarker and Putative Therapeutic Target in Cutaneous Squamous Cell Carcinoma (2022)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021)