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Publications 1998 2019

2019

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

Hirvonen, E. A. M., Peuhkuri, S., Norberg, A., Degerman, S., Hannula-Jouppi, K., Välimaa, H., Kilpivaara, O. & Wartiovaara-Kautto, U., Jan 2019, In : Leukemia. 33, 1, p. 275-278 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Tabassum, R., Rämö, J. T., Ripatti, P., Koskela, J. T., Kurki, M., Karjalainen, J., Palta, P., Hassan, S., Nunez-Fontarnau, J., Kiiskinen, T. T. J., Söderlund, S., Matikainen, N., Gerl, M. J., Surma, M. A., Klose, C., Stitziel, N. O., Laivuori, H., Havulinna, A. S., Service, S. K., Salomaa, V. & 240 othersPirinen, M., Jalanko, A., Kaprio, J., Donner, K., Kaunisto, M., Mars, N., Dada, A., Shcherban, A., Ganna, A., Lehisto, A., Kilpeläinen, E., Brein, G., Awaisa, G., Harju, J., Pärn, K., Parolo, P. D. B., Kajanne, R., Lemmelä, S., Sipilä, T. P., Sipilä, T., Lyhs, U., Llorens, V., Niiranen, T., Kristiansson, K., Männikkö, L., Jiménez, M. G., Perola, M., Wong, R., Kilpi, T., Hiekkalinna, T., Järvensivu, E., Kaiharju, E., Mattsson, H., Laukkanen, M., Laiho, P., Lähteenmäki, S., Sistonen, T., Soini, S., Ziemann, A., Lehtonen, A., Lertratanakul, A., Georgantas, B., Riley-Gillis, B., Quarless, D., Rahimov, F., Heap, G., Jacob, H., Waring, J., Davis, J. W., Smaoui, N., Popovic, R., Esmaeeli, S., Waring, J., Matakidou, A., Challis, B., Close, D., Petrovski, S., Karlsson, A., Schleutker, J., Pulkki, K., Virolainen, P., Kallio, L., Mannermaa, A., Heikkinen, S., Kosma, V-M., Chen, C-Y., Runz, H., Liu, J., Bronson, P., John, S., Lahdenperä, S., Eaton, S., Zhou, W., Hendolin, M., Tuovila, O., Pakkanen, R., Maranville, J., Usiskin, K., Hochfeld, M., Plenge, R., Yang, R., Biswas, S., Greenberg, S., Laakkonen, E., Kononen, J., Paloneva, J., Kujala, U., Kuopio, T., Laukkanen, J., Kangasniemi, E., Savinainen, K., Laaksonen, R., Arvas, M., Ritari, J., Partanen, J., Hyvärinen, K., Wahlfors, T., Peterson, A., Oh, D., Chang, D., Teng, E., Strauss, E., Kerchner, G., Chen, H., Chen, H., Schutzman, J., Michon, J., Hunkapiller, J., McCarthy, M., Bowers, N., Lu, T., Bhangale, T., Pulford, D., Waterworth, D., Kulkarni, D., Xu, F., Betts, J., Gordillo, J. E., Hoffman, J., Auro, K., McCarthy, L., Ghosh, S., Ehm, M., Pitkänen, K., Mäkelä, T., Loukola, A., Joensuu, H., Sinisalo, J., Eklund, K., Aaltonen, L., Färkkilä, M., Carpen, O., Kauppi, P., Tienari, P., Ollila, T., Tuomi, T., Meretoja, T., Pitkäranta, A., Turunen, J., Hannula-Jouppi, K., Pikkarainen, S., Seitsonen, S., Koskinen, M., Palomäki, A., Rinne, J., Metsärinne, K., Elenius, K., Pirilä, L., Koulu, L., Voutilainen, M., Juonala, M., Peltonen, S., Aaltonen, V., Loboda, A., Podgornaia, A., Chhibber, A., Chu, A., Fox, C., Diogo, D., Holzinger, E., Eicher, J., Gormley, P., Mehta, V., Wang, X., Kettunen, J., Pylkäs, K., Kalaoja, M., Karjalainen, M., Hinttala, R., Kaarteenaho, R., Vainio, S., Mantere, T., Remes, A., Huhtakangas, J., Junttila, J., Tasanen, K., Huilaja, L., Luodonpää, M., Hautala, N., Karihtala, P., Kauppila, S., Harju, T., Blomster, T., Soininen, H., Harvima, I., Pihlajamäki, J., Kaarniranta, K., Pelkonen, M., Laakso, M., Hiltunen, M., Kiviniemi, M., Kaipiainen-Seppänen, O., Auvinen, P., Kälviäinen, R., Julkunen, V., Malarstig, A., Hedman, Å., Marshall, C., Whelan, C., Lehtonen, H., Parkkinen, J., Linden, K., Kalpala, K., Miller, M., Bing, N., McDonough, S., Chen, X., Hu, X., Wu, Y., Auranen, A., Jussila, A., Uusitalo-Järvinen, H., Kankaanranta, H., Uusitalo, H., Peltola, J., Kähönen, M., Isomäki, P., Laitinen, T., Salmi, T., Muslin, A., Wang, C., Chatelain, C., Xu, E., Auge, F., Call, K., Klinger, K., Crohns, M., Gossel, M., Palin, K., Rivas, M., Siirtola, H., Tabuenca, J. G., Jauhiainen, M., Daly, M. J., Freimer, N. B., Palotie, A., Taskinen, M-R., Simons, K., Ripatti, S. & Project, F., 24 Sep 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

Vakkilainen, S., Puhakka, L., Klemetti, P., Heiskanen, K., Seppänen, M., Muona, M., POSSEMEs, C., Duffy, D., Väisänen, T., Elomaa, O., Palomäki, M., Saxen, H., Ranki, A. & Hannula-Jouppi, K., Jul 2019, In : Acta Dermato-Venereologica. 99, 9, p. 789-796 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2018

Immune cell phenotype and functional defects in Netherton syndrome

Eränkö, E., Ilander, M., Tuomiranta, M., Mäkitie, A., Lassila, T., Kreutzman, A., Klemetti, P., Mustjoki, S., Hannula-Jouppi, K. & Ranki, A., 26 Nov 2018, In : Orphanet journal of rare diseases. 13, 10 p., 213.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2017

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

Muurinen, M., Hannula-Jouppi, K., Reinius, L. E., Soderhall, C., Merid, K., Bergstrom, A., Melen, E., Pershagen, G., Lipsanen-Nyman, M., Greco, D. & Kere, J., 16 Nov 2017, In : Scientific Reports. 7, 11 p., 15693.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2016

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation

Hannula-Jouppi, K., Laasanen, S-L., Ilander, M., Furio, L., Tuomiranta, M., Marttila, R., Jeskanen, L., Häyry, V., Kanerva, M., Kivirikko, S., Tuomi, M-L., Heikkila, H., Mustjoki, S., Hovnanian, A. & Ranki, A., Apr 2016, In : Jama dermatology. 152, 4, p. 435-442 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

He, Y., Maier, K., Leppert, J., Hausser, I., Schwieger-Briel, A., Weibel, L., Theiler, M., Kiritsi, D., Busch, H., Boerries, M., Hannula-Jouppi, K., Heikkilä, H., Tasanen, K., Castiglia, D., Zambruno, G. & Has, C., 1 Dec 2016, In : American Journal of Human Genetics. 99, 6, p. 1395-1404 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2015

Cyclosporine Treatment in Severe Gestational Pemphigoid

Huilaja, L., Makikallio, K., Hannula-Jouppi, K., Vakeva, L., Hook-Nikanne, J. & Tasanen, K., 2015, In : Acta Dermato-Venereologica. 95, 5, p. 593-595 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2014

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

Hannula-Jouppi, K., Muurinen, M., Lipsanen-Nyman, M., Reinius, L. E., Ezer, S., Greco, D. & Kere, J., 1 Mar 2014, In : Epigenetics. 9, 3, p. 351-365 15 p.

Research output: Contribution to journalArticleScientificpeer-review

IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome

Hannula-Jouppi, K., Laasanen, S-L., Heikkila, H., Tuomiranta, M., Tuomi, M-L., Hilvo, S., Kluger, N., Kivirikko, S., Hovnanian, A., Makinen-Kiljunen, S. & Ranki, A., Oct 2014, In : Journal of Allergy and Clinical Immunology. 134, 4, p. 985-988 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2013

Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

Wehkalampi, K., Muurinen, M., Wirta, S. B., Hannula-Jouppi, K., Hovi, P., Järvenpää, A-L., Eriksson, J. G., Andersson, S., Kere, J. & Kajantie, E., 19 Jun 2013, In : PLoS One. 8, 6, p. Article Number: e67379 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic Susceptibility to Non-Necrotizing Erysipelas/Cellulitis

Hannula-Jouppi, K., Massinen, S., Siljander, T., Mäkelä, S. P., Kivinen, K., Leinonen, R., Jiao, H., Aitos, P., Karppelin, M., Vuopio, J., Syrjanen, J. & Kere, J., 20 Feb 2013, In : PLoS One. 8, 2, p. Article Number: e56225 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Recurrent cellulitis with benzathine penicillin prophylaxis is associated with diabetes and psoriasis

Karppelin, M., Siljander, T., Huhtala, H., Aromaa, A., Vuopio, J., Hannula-Jouppi, K., Kere, J. & Syrjanen, J., Mar 2013, In : European Journal of Clinical Microbiology & Infectious Diseases. 32, 3, p. 369-372 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

Sandbacka, M., Bruce, S., Halttunen, M., Puhakka, M., Lahermo, P., Hannula-Jouppi, K., Lipsanen-Nyman, M., Kere, J., Aittomäki, K. & Laivuori, H., 2011, In : Fertility and Sterility : official journal of the American Fertility Society . 95, 8, p. 2703-2706 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

Bruce, S., Hannula-Jouppi, K., Puoskari, M., Fransson, I., Simola, K. O., Lipsanen-Nyman, M. & Kere, J., 2010, In : Journal of Medical Genetics. 47, 12, p. 816-822 7 p.

Research output: Contribution to journalArticleScientificpeer-review

The mutation spectrum in RECQL4 diseases

Siitonen, A., Sotkasiira, J., Biervliet, M., Benmansour, A., Capri, Y., Cormier-Daire, V., Crandall, B., Hannula-Jouppi, K., Hennekam, R., Herzog, D., Keymolen, K., Lipsanen-Nyman, M., Miny, P., Plon, S. E., Riedl, S., Sarkar, A., Vargas, F. R., Verloes, A., Wang, L. L., Kääriäinen, H. & 1 othersKestilä, M., 2009, In : European Journal of Human Genetics. 17, 2, p. 151-158 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2008

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR

Bruce, S., Lindgren, C. M., Lipsanen-Nyman, M., Kere, J. & Hannula-Jouppi, K., 2008, In : Clinical Chemistry (Washington, DC). 54, 3, p. 491-499 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2006

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., Hartung, D., Innes, M., Kerem, B., Nowackzyk, M. J., Rivlin, J., Roberts, W., Senman, L., Summers, A., Szatmari, P., Wong, V., Vincent, J. B., Zeesman, S., Osborne, L. R., Cardy, J. O. & 3 othersKere, J., Scherer, S. W. & Hannula-Jouppi, K., 2006, In : American Journal of Human Genetics. 79, p. 965-972 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2005

Global analysis of uniparental disomy using high-density genotyping arrays

Bruce, S., Leinonen, R., Lindgren, CM., Kivinen, K., Dahlman-Wright, K., Lipsanen-Nyman, M., Hannula-Jouppi, K. S. E. & Kere, J., 2005, In : Journal of Medical Genetics. 42, 11, p. 847-851 5 p.

Research output: Contribution to journalArticleScientificpeer-review

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H. & Kere, J., 2005, In : PLoS Genetics. 1, 4, p. 467-474 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2004

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene

Peyrard-Janvid, M., Anthoni, H., Onkamo, P., Lahermo, P., Zucchelli, M., Kaminen, N., Hannula-Jouppi, K. S. E., Nopola-Hemmi, J., Voutilainen, A., Lyytinen, H. & Kere, J., 2004, In : Human Genetics. 114, 5, p. 510-516 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Fine mapping of the 2p12-p11 dyslexia candidate region and exclusion of TACR1 as a candidate gene.

Peyrard-Janvid, M., Anthoni, H., Onkamo, P., Lahermo, P., Zucchelli, M., Kaminen-Ahola, N. J., Hannula-Jouppi, K. S. E., Lyytinen, H., Muller, K., Kaaranen, M., Nopola-Hemmi, J., Voutilainen, A. & Kere, J., 2004, In : Human Genetics. 114, p. 510-516 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2003

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain preotein dynamically regulated in brain

Taipale, M. J. O., Kaminen, N., Nopola-Hemmi, J., Haltia, T., Myllyluoma, B., Lyytinen, H., Muller, K., Kaaranen, M., Lindsberg, P., Hannula-Jouppi, K. S. E. & Kere, J., 2003, In : Proceedings of the National Academy of Sciences of the United States of America. 100, p. 11553-11558 6 p.

Research output: Contribution to journalArticleScientificpeer-review

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

Kaminen, N., Hannula-Jouppi, K., Kestila, M., Lahermo, P., Muller, K., Kaaranen, M., Myllyluoma, B., Voutilainen, A., Lyytinen, H., Nopola-Hemmi, J. & Kere, J., 2003, In : Journal of Medical Genetics. 2003, 40, p. 340-345 6 p.

Research output: Contribution to journalArticleScientificpeer-review

A genome scan for dyslexia confirms linkage to chromosome 2p11 and identifies a new locus on 7q32

Kaminen, N., Hannula-Jouppi, K. S. E., Kestilä, M., Lahermo, P., Muller, K., Kaaranen, M., Lyytinen, H., Nopola-Hemmi, J. & Kere, J., 2003, In : Journal of Medical Genetics. 40, p. 340-345 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause

Hannula, K., Lipsanen-Nyman, M., Kristo, P., Kaitila, I., Simola, K. O. J., Lenko, H. L., Tapanainen, P., Holmberg, C. & Kere, J., 2002, In : Pediatrics (English Edition). 2002, 109, p. 441-448 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2001

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

Hannula, K., Lipsanen-Nyman, M., Kontiokari, T. & Kere, J., 2001, In : American Journal of Human Genetics. 2001, 68, p. 247-253 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

Hannula, K., Kere, J., Pirinen, S., Lipsanen-Nyman, M. & Holmberg, C., 2001, In : Journal of Medical Genetics. 2001, 38, p. 273-278 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA

Hannula, K., Lipsanen-Nyman, M., Scherer, S. W., Holmberg, C., Hoglund, P. & Kere, J., 2001, In : Genomics. 2001, 73, p. 1-9 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1998

Clustering of private mutations in the congenital chloride diarrhea down-regulated in adenoma gene

Hoglund, P., Haila, S., Gustavson, K. H., Taipale, M., Hannula, K., Popinska, K., Holmberg, C., Socha, J., de la Chapelle, A. & Kere, J., 1998, In : Human Mutation. 1998, 11, p. 321-327 7 p.

Research output: Contribution to journalArticleScientificpeer-review