19992020

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2020

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

Loid, P., Mustila, T., Mäkitie, R. E., Viljakainen, H., Kämpe, A., Tossavainen, P., Lipsanen-Nyman, M., Pekkinen, M. & Mäkitie, O., 21 Feb 2020, In : Frontiers in Endocrinology. 11, 9 p., 81.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2019

Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism

Sivunen, J., Piirila, P., Karlberg, S., Kajosaari, M., Valmari, P., Kupari, M., Lipsanen-Nyman, M., Jalanko, H. & Sovijarvi, A. R. A., 9 Sep 2019, In : Pediatric Pulmonology. 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
2018

Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder

Karlberg, S., Tiitinen, A., Alfthan, H. & Lipsanen-Nyman, M., Jul 2018, In : Human Reproduction. 33, 7, p. 1254-1261 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity

Laakso, S., Viljakainen, H., Lipsanen-Nyman, M., Turpeinen, U., Ivaska, K. K., Anand-Ivell, R., Ivell, R. & Mäkitie, O., 2018, In : Hormone research in paediatrics. 89, 6, p. 442-449 8 p.

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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Renal findings in patients with Mulibrey nanism

Sivunen, J., Karlberg, S., Lohi, J., Karlberg, N., Lipsanen-Nyman, M. & Jalanko, H., Sep 2017, In : Pediatric Nephrology. 32, 9, p. 1531-1536 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Tommiska, J., Känsäkoski, J., Skibsbye, L., Vaaralahti, K., Liu, X., Lodge, E. J., Tang, C., Yuan, L., Fagerholm, R., Kanters, J. K., Lahermo, P., Kaunisto, M., Keski-Filppula, R., Vuoristo, S., Pulli, K., Ebeling, T., Valanne, L., Sankila, E-M., Kivirikko, S., Lääperi, M. & 15 others, Casoni, F., Giacobini, P., Phan-Hug, F., Buki, T., Tena-Sempere, M., Pitteloud, N., Veijola, R., Lipsanen-Nyman, M., Kaunisto, K., Mollard, P., Andoniadou, C. L., Hirsch, J. A., Varjosalo, M., Jespersen, T. & Raivio, T., 3 Nov 2017, In : Nature Communications. 8, 11 p., 1289.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2016

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Kettunen, K. M., Karikoski, R., Hamalainen, R. H., Toivonen, T. T., Antonenkov, V. D., Kulesskaya, N., Voikar, V., Holtta-Vuori, M., Ikonen, E., Sainio, K., Jalanko, A., Karlberg, S., Karlberg, N., Lipsanen-Nyman, M., Toppari, J., Jauhiainen, M., Hiltunen, J. K., Jalanko, H. & Lehesjoki, A-E., 15 May 2016, In : Biology open. 5, 5, p. 584-595 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

Viljakainen, H., Andersson-Assarsson, J. C., Armenio, M., Pekkinen, M., Pettersson, M., Valta, H., Lipsanen-Nyman, M., Makitie, O. & Lindstrand, A., 1 Jul 2015, In : PLoS One. 10, 7, 13 p., 0131883.

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

Suppressed Bone Turnover in Obesity: A Link to Energy Metabolism? A Case-Control Study

Viljakainen, H., Ivaska, K. K., Paldanius, P., Lipsanen-Nyman, M., Saukkonen, T., Pietilainen, K. H., Andersson, S., Laitinen, K. & Makitie, O., Jun 2014, In : Journal of Clinical Endocrinology and Metabolism. 99, 6, p. 2155-2163 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

Lihavuus (lapset) : Käypä hoito -suosituksen päivitystiivistelmä

Suomalaisen Lääkäriseuran Duodecimin ja Suomen Lastenlääkäriyhdistys ry:n asettama työryhmä, 2012, In : Duodecim. 128, 13, p. 1347-1348 2 p.

Research output: Contribution to journalArticleProfessional

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

Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

Karlberg, S., Toppari, J., Karlberg, N., Nurmio, M., Karikoski, R., Jalanko, H. & Lipsanen-Nyman, M., 2011, In : Journal of Clinical Endocrinology and Metabolism. 96, 11, p. 3399-3407 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

Association of intramyocellular, intraperitoneal and liver fat with glucose tolerance in severely obese adolescents

Saukkonen, T., Heikkinen, S., Hakkarainen, A., Häkkinen, A-M., van Leemput, K., Lipsanen-Nyman, M. & Lundbom, N., 2010, In : European Journal of Endocrinology. 163, 3, p. 413-419 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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

European Multicentre Study in Children Born Small for Gestational Age with Persistent Short Stature: Comparison of Continuous and Discontinuous Growth Hormone Treatment Regimens

Phillip, M., Lebenthal, Y., Lebl, J., Zuckerman-Levin, N., Korpal-Szczyrska, M., Marques, J. S., Steensberg, A., Jons, K., Kappelgaard, A-M., Ibanez, L., European Norditropin SGA Study Grp, Lipsanen-Nyman, M., Dunkel, L., Sipilä, I., Otonkoski, T. & Lapatto, R., 2009, In : Hormone Research. 71, 1, p. 52-59 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas

Karlberg, S., Lipsanen-Nyman, M., Lassus, H., Kallijärvi, J., Lehesjoki, A-E. & Butzow, R., 2009, In : Modern Pathology. 22, p. 570-578 9 p.

Research output: Contribution to journalArticleScientificpeer-review

High frequency of tumours in Mulibrey nanism

Karlberg, N., Karlberg, S., Karikoski, R., Mikkola, S., Lipsanen-Nyman, M. & Jalanko, H. J., 2009, In : Journal of Pathology. 218, 2, p. 163-171 9 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 others, Kestilä, 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

2007

Cardiac dysfunction in children with mulibrey nanism

Eerola, A., Pihkala, J., Karlberg, N., Lipsanen-Nyman, M. & Jokinen, E., 2007, In : Pediatric Cardiology. 28, p. 155-162 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Growth and growth hormone therapy in subjects with mulibrey nanism

Karlberg, N., Jalanko, H. J. & Lipsanen-Nyman, M., 2007, In : Pediatrics (English Edition). 120, 1, p. e102-111 10 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 others, Kere, 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

A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity

Valli-Jaakola, K. M., Palvimo, J., Lipsanen-Nyman, M., Salomaa, V., Peltonen, L., Kontula, K. & Schalin-Jäntti, C., 2006, In : Hormone Research. 66, p. 61-69 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Övervikt hos barn och unga

Lipsanen-Nyman, M. & Björkqvist, E., 2006, In : Finska Läkaresällskapets Handlingar. 166, 2, p. 81-86 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Risk factors for reduced areal bone mineral density in young adults with stem cell transplantation in childhood

Taskinen, M., Kananen, K., Välimäki, M., Löyttyniemi, E., Hovi, L., Saarinen-Pihkala, U. M. & Lipsanen-Nyman, M., 2006, In : Pediatric Transplantation. 10, p. 90-97 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

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

Karlberg, N., Jalanko, H. J., Kallijärvi, J., Lehesjoki, A-E. & Lipsanen-Nyman, M., 2005, In : Diabetes. 54, 12, p. 3577-3581 5 p.

Research output: Contribution to journalArticleScientificpeer-review

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

Kallijärvi, J., Lahtinen, U., Hämäläinen, R., Lipsanen-Nyman, M., Palvimo, J. & Lehesjoki, A-E., 2005, In : Experimental Cell Research. 308, 1, p. 146-155 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2004

Failure of sexual maturation in mulibrey nanism

Karlberg, S., Tiitinen, A. & Lipsanen-Nyman, M., 2004, In : New England Journal of Medicine. 351, 24, p. 2559-2560 2 p.

Research output: Contribution to journalArticleScientificpeer-review

Mulibrey nanism: clinical features and diagnostic criteria

Karlberg, N., Jalanko, H., Perheentupa, J. & Lipsanen-Nyman, M., 2004, In : Journal of Medical Genetics. 41, 2, p. 92-98 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2003

Genomic structure and novel mutations in the TRIM37 gene in Mulibrey nanism

Hamalainen, R., Avela, K., Kallijarvi, J., Lipsanen-Nyman, M. & Lehesjoki, AE., Nov 2003, In : American Journal of Human Genetics. 73, 5, p. 578-578 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Mulibrey heart disease - Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985

Lipsanen-Nyman, M., Perheentupa, J., Rapola, J., Sovijärvi, A. & Kupari, M., 2003, In : Circulation . 107, 22, p. 2810-2815 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder

Kallijarvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen & Lehesjoki, AE., May 2002, In : American Journal of Human Genetics. 70, 5, p. 1215-1228 14 p.

Research output: Contribution to journalArticleScientificpeer-review

2000

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Avela, K., Lipsanen-Nyman, M., Idänheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A. & Lehesjoki, A. E., 2000, In : Nature Genetics. 25, 3, p. 298-301 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Impaired glucose tolerance and dyslipidaemia as late effects after bone-marrow transplantation in childhood

Taskinen, M., Saarinen-Pihkala, UM., Hovi, L. & Lipsanen-Nyman, M., 16 Sep 2000, In : Lancet. 356, 9234, p. 993-997 5 p.

Research output: Contribution to journalArticleScientificpeer-review