Lipsanen-Nyman M - Search Results

1

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, de la Chapelle A, Lehesjoki AE. Avela K, et al. Am J Hum Genet. 1997 Apr;60(4):896-902. Am J Hum Genet. 1997. PMID: 9106536 Free PMC article.

2

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

Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE. Kallijärvi J, et al. Am J Hum Genet. 2002 May;70(5):1215-28. doi: 10.1086/340256. Epub 2002 Apr 5. Am J Hum Genet. 2002. PMID: 11938494 Free PMC article.

3

Novel mutations in the TRIM37 gene in Mulibrey Nanism.

Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Hämäläinen RH, et al. Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233. Hum Mutat. 2004. PMID: 15108285

4

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

Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Avela K, et al. Nat Genet. 2000 Jul;25(3):298-301. doi: 10.1038/77053. Nat Genet. 2000. PMID: 10888877

5

Mulibrey nanism: clinical features and diagnostic criteria.

Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M. Karlberg N, et al. J Med Genet. 2004 Feb;41(2):92-8. doi: 10.1136/jmg.2003.014118. J Med Genet. 2004. PMID: 14757854 Free PMC article.

6

Mulibrey nanism--a novel peroxisomal disorder.

Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.

7

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

Kallijärvi J, Lahtinen U, Hämäläinen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE. Kallijärvi J, et al. Exp Cell Res. 2005 Aug 1;308(1):146-55. doi: 10.1016/j.yexcr.2005.04.001. Exp Cell Res. 2005. PMID: 15885686

8

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 AE, Butzow R. Karlberg S, et al. Mod Pathol. 2009 Apr;22(4):570-8. doi: 10.1038/modpathol.2009.13. Epub 2009 Mar 27. Mod Pathol. 2009. PMID: 19329943 Free article.

9

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37.

Karlberg N, Jalanko H, Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Karlberg N, et al. Diabetes. 2005 Dec;54(12):3577-81. doi: 10.2337/diabetes.54.12.3577. Diabetes. 2005. PMID: 16306379

10

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

Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki AE. Kettunen KM, et al. Biol Open. 2016 May 15;5(5):584-95. doi: 10.1242/bio.016246. Biol Open. 2016. PMID: 27044324 Free PMC article.

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