If you made any changes in Pure these will be visible here soon.

Publications 1998 2019

Filter
Article
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

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
File
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
File
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
File
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
File
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
File

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
File

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