A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma
Brandt, E., Harjama, L., Elomaa, O., Saarela, J., Donner, K., Lappalainen, K., Kivirikko, S., Ranki, A., Kere, J., Kettunen, K., Hannula‐Jouppi, K.
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2024)
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2024)
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Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients
Harjama, L., Karvonen, V., Kettunen, K., Elomaa, O., Einarsdottir, E., Heikkilä, H., Kivirikko, S., Ellonen, P., Saarela, J., Ranki, A., Kere, J., Hannula‐Jouppi, K.
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2021)
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Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility
Malm, H, Kajantie, E, Kivirikko, S, Kääriäinen, H, Peippo, M, Somer, M
Published in Neurology (27.08.2002)
Published in Neurology (27.08.2002)
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Rapp-Hodgkin syndrome and the tail of p63
Chan, I., McGrath, J. A., Kivirikko, S.
Published in Clinical and experimental dermatology (01.03.2005)
Published in Clinical and experimental dermatology (01.03.2005)
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Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16
TROMP, G, KUIVANIEMI, H, KORN, R, MADHATHERI, S, MCCARRON, S, PULKKINEN, L, PUNNETT, H, SHIMOYA, K, SPOTILA, L, TATE, A, WILLIAMS, C. J, RAPHAEL, S, ALA-KOKKO, L, CHRISTIANO, A, CONSIDINE, E, DHULIPALA, R, HYLAND, J, JOKINEN, A, KIVIRKKO, S
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
Journal Article
Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene
Kivirikko, S, Heinämäki, P, Rehn, M, Honkanen, N, Myers, J C, Pihlajaniemi, T
Published in The Journal of biological chemistry (18.02.1994)
Published in The Journal of biological chemistry (18.02.1994)
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Cytokine modulation of type XV collagen gene expression in human dermal fibroblast cultures
Kivirikko, S., Mauviel, A., Pihlajaniemi, T., Uitto, J.
Published in Experimental dermatology (01.10.1999)
Published in Experimental dermatology (01.10.1999)
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Conference Proceeding
Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region
Myers, J C, Kivirikko, S, Gordon, M K, Dion, A S, Pihlajaniemi, T
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1992)
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Journal Article
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
Keskitalo, Salla, Haapaniemi, Emma, Einarsdottir, Elisabet, Rajamäki, Kristiina, Heikkilä, Hannele, Ilander, Mette, Pöyhönen, Minna, Morgunova, Ekaterina, Hokynar, Kati, Lagström, Sonja, Kivirikko, Sirpa, Mustjoki, Satu, Eklund, Kari, Saarela, Janna, Kere, Juha, Seppänen, Mikko R J, Ranki, Annamari, Hannula-Jouppi, Katariina, Varjosalo, Markku
Published in Frontiers in immunology (05.12.2019)
Published in Frontiers in immunology (05.12.2019)
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Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation
Hannula-Jouppi, Katariina, Harjama, Liisa, Einarsdottir, Elisabet, Elomaa, Outi, Kettunen, Kaisa, Saarela, Janna, Soronen, Minna, Bouchard, Laura, Lappalainen, Katriina, Heikkilä, Hannele, Kivirikko, Sirpa, Seppänen, Mikko R.J., Kere, Juha, Ranki, Annamari
Published in Journal of the American Academy of Dermatology (01.08.2020)
Published in Journal of the American Academy of Dermatology (01.08.2020)
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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka
Published in Orphanet journal of rare diseases (22.05.2024)
Published in Orphanet journal of rare diseases (22.05.2024)
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The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients
Luukkonen, Tiia Maria, Kiiski, Ville, Ahola, Maria, Mandelin, Johanna, Virtanen, Hannele, Pöyhönen, Minna, Kivirikko, Sirpa, Surakka, Ida, Reitamo, Sakari, Palotie, Aarno, Heliövaara, Markku, Jakkula, Eveliina, Remitz, Anita
Published in Acta dermato-venereologica (06.04.2017)
Published in Acta dermato-venereologica (06.04.2017)
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Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa
Pulkkinen, L, McGrath, J, Airenne, T, Haakana, H, Tryggvason, K, Kivirikko, S, Meneguzzi, G, Ortonne, J P, Christiano, A M, Uitto, J
Published in Molecular medicine (Cambridge, Mass.) (01.02.1997)
Published in Molecular medicine (Cambridge, Mass.) (01.02.1997)
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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
Harjama, Liisa, Kettunen, Kaisa, Elomaa, Outi, Einarsdottir, Elisabet, Heikkilä, Hannele, Kivirikko, Sirpa, Lappalainen, Katriina, Saarela, Janna, Alby, Caroline, Ranki, Annamari, Kere, Juha, Hadj-Rabia, Smail, Hannula-Jouppi, Katariina
Published in Acta dermato-venereologica (2020)
Published in Acta dermato-venereologica (2020)
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Journal Article
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
Kivirikko, S, McGrath, J A, Baudoin, C, Aberdam, D, Ciatti, S, Dunnill, M G, McMillan, J R, Eady, R A, Ortonne, J P, Meneguzzi, G
Published in Human molecular genetics (01.05.1995)
Published in Human molecular genetics (01.05.1995)
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Prenatally detected trisomy 7 mosaicism in a dysmorphic child
Kivirikko, Sirpa, Salonen, Riitta, Salo, Armi, von Koskull, Harriet
Published in Prenatal diagnosis (01.07.2002)
Published in Prenatal diagnosis (01.07.2002)
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A syndrome with multiple malformations, mental retardation, and ACTH deficiency
Kajantie, Eero, Otonkoski, Timo, Kivirikko, Sirpa, Somer, Mirja
Published in American journal of medical genetics. Part A (30.04.2004)
Published in American journal of medical genetics. Part A (30.04.2004)
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Journal Article
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date
Shurman, Daniel, Losi-Sasaki, Jacqueline, Grimwood, Ronald, Kivirikko, Sirpa, Tichy, Elizabeth, Uitto, Jouni, Richard, Gabriele
Published in EJD. European journal of dermatology (01.03.2006)
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Published in EJD. European journal of dermatology (01.03.2006)
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