Salonen R - Search Results

1

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M. Tallila J, et al. Among authors: salonen r. Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057. Hum Mutat. 2009. PMID: 19466712 Free PMC article.

2

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M. Kyttälä M, et al. Among authors: salonen r. Nat Genet. 2006 Feb;38(2):155-7. doi: 10.1038/ng1714. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415886

3

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Tallila J, et al. Among authors: salonen r. Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004. Am J Hum Genet. 2008. PMID: 18513680 Free PMC article.

4

Clinical and genetic heterogeneity in Meckel syndrome.

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Paavola P, et al. Among authors: salonen r. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

5

Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.

Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R. Paetau A, et al. Among authors: salonen r. J Neuropathol Exp Neurol. 2008 Aug;67(8):750-62. doi: 10.1097/NEN.0b013e318180ec2e. J Neuropathol Exp Neurol. 2008. PMID: 18648327

6

Mutant CHUK and severe fetal encasement malformation.

Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestilä M. Lahtela J, et al. Among authors: salonen r. N Engl J Med. 2010 Oct 21;363(17):1631-7. doi: 10.1056/NEJMoa0911698. N Engl J Med. 2010. PMID: 20961246 Free article.

7

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L. Visapää I, et al. Among authors: salonen r. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article.

8

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Paavola P, Salonen R, Weissenbach J, Peltonen L. Paavola P, et al. Among authors: salonen r. Nat Genet. 1995 Oct;11(2):213-5. doi: 10.1038/ng1095-213. Nat Genet. 1995. PMID: 7550354

9

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L. Mee L, et al. Among authors: salonen r. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843405

10

Clinical utility gene card for: Meckel syndrome.

Salonen R, Kestilä M, Bergmann C. Salonen R, et al. Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368913 Free PMC article. No abstract available.

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