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Publications 2004 2019

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

2017

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
File
2016

TRIM37 and Mulibrey nanism

Kettunen, K., Karlberg, N., Karlberg, S., Jalanko, H., Lipsanen-Nyman, M. & Lehesjoki, A-E., Mar 2016, Epstein's Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. Ericson, R. P. & Wynshaw-Boris, A. J. (eds.). 3. p. ed. New York: Oxford University Press, p. 1413-1416 4 p. (Oxford monographs on medical genetics).

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

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
File
2012

Mulibrey nanism : characterization of hypogonadism, infertility and tumors

Karlberg, S., 2012, Helsinki: [Susann Karlberg]. 74 p.

Research output: ThesisDoctoral ThesisCollection of Articles

2011

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

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

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